Variant report

Variant	nsv876017
Chromosome Location	chr2:234618243-234626972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:234620172-234620370	HepG2	liver:	n/a	n/a
2	BCL3	chr2:234619957-234620684	A549	lung:	n/a	chr2:234620657-234620664 chr2:234620407-234620416
3	BHLHE40	chr2:234620203-234620396	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:234620123-234620290	K562	blood:	n/a	n/a
5	BRCA1	chr2:234620132-234620425	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr2:234620215-234620235	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:234620072-234620388	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:234624825-234625037	A549	lung:	n/a	n/a
9	CEBPB	chr2:234618866-234618896	A549	lung:	n/a	n/a
10	CEBPB	chr2:234624956-234625086	HepG2	liver:	n/a	n/a
11	CTCF	chr2:234620108-234620567	GM19239	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
12	CTCF	chr2:234620200-234620350	MCF-7	breast:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
13	CTCF	chr2:234620140-234620290	GM12865	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
14	CTCF	chr2:234620180-234620330	HUVEC	blood vessel:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
15	CTCF	chr2:234620092-234620571	GM12891	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
16	CTCF	chr2:234620127-234620393	Pancreas_OC	pancreas:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
17	CTCF	chr2:234621660-234621810	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr2:234620220-234620370	GM12873	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
19	CTCF	chr2:234621669-234621880	HepG2	liver:	n/a	n/a
20	CTCF	chr2:234622400-234622445	Lung_OC	lung:	n/a	n/a
21	CTCF	chr2:234620240-234620390	GM12864	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620247-234620257 chr2:234620250-234620259
22	CTCF	chr2:234620500-234620526	NHEK	skin:	n/a	n/a
23	CTCF	chr2:234620111-234620434	Lung_OC	lung:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
24	CTCF	chr2:234620180-234620330	HPF	lung:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
25	CTCF	chr2:234620026-234620452	K562	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
26	CTCF	chr2:234620160-234620310	BJ	skin:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
27	CTCF	chr2:234620220-234620370	BJ	skin:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
28	CTCF	chr2:234620160-234620310	HEK293	kidney:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
29	CTCF	chr2:234620180-234620330	HBMEC	blood vessel:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
30	CTCF	chr2:234620220-234620370	GM12872	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
31	CTCF	chr2:234620127-234620405	K562	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
32	CTCF	chr2:234620200-234620350	GM12864	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
33	CTCF	chr2:234620180-234620330	HMEC	breast:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
34	CTCF	chr2:234620121-234620388	LNCaP	prostate:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
35	CTCF	chr2:234620075-234620573	GM19238	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
36	CTCF	chr2:234620140-234620290	HFF	foreskin:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
37	CTCF	chr2:234620494-234620618	GM12878	blood:	n/a	n/a
38	CTCF	chr2:234620840-234620990	GM12864	blood:	n/a	n/a
39	CTCF	chr2:234620180-234620330	WERI-Rb-1	eye:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
40	CTCF	chr2:234620140-234620290	HAc	cerebellar:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
41	CTCF	chr2:234620055-234620472	IMR90	lung:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
42	CTCF	chr2:234619933-234620551	GM12878	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
43	CTCF	chr2:234620140-234620290	NHDF-neo	bronchial:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
44	CTCF	chr2:234620200-234620350	K562	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
45	CTCF	chr2:234620220-234620370	GM12878	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
46	CTCF	chr2:234620200-234620350	GM12867	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
47	CTCF	chr2:234620119-234620404	HUVEC	blood vessel:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
48	CTCF	chr2:234620129-234620388	Hela-S3	cervix:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
49	CTCF	chr2:234620115-234620395	MCF-7	breast:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
50	CTCF	chr2:234620160-234620310	Hela-S3	cervix:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234626351-234626401	SAEC	small airway:	n/a
2	chr2:234626464-234626514	Jurkat	blood:	n/a
3	chr2:234620463-234620513	AG04449	skin:	fetal
4	chr2:234621572-234621622	ProgFib	skin:	n/a
5	chr2:234626464-234626514	Hepatocyte	liver:	n/a
6	chr2:234626351-234626401	SK-N-SH_RA	brain:	n/a
7	chr2:234620385-234620435	K562	blood:	n/a
8	chr2:234620385-234620435	HRPEpiC	eye:	n/a
9	chr2:234620154-234620204	SAEC	small airway:	n/a
10	chr2:234626084-234626134	ProgFib	skin:	n/a
11	chr2:234626351-234626401	HL-60	blood:	n/a
12	chr2:234622113-234622163	HL-60	blood:	n/a
13	chr2:234626351-234626401	GM12891	blood:	n/a
14	chr2:234622113-234622163	IMR90	lung:	fetal
15	chr2:234620154-234620204	AoSMC	blood vessel:	n/a
16	chr2:234621440-234621490	HCM	heart:	n/a
17	chr2:234621621-234621671	HCM	heart:	n/a
18	chr2:234620154-234620204	HCT-116	colon:	n/a
19	chr2:234621572-234621622	HEEpiC	esophagus:	n/a
20	chr2:234620463-234620513	HepG2	liver:	n/a
21	chr2:234622113-234622163	NH-A	brain:	n/a
22	chr2:234626351-234626401	ProgFib	skin:	n/a
23	chr2:234620385-234620435	SK-N-SH_RA	brain:	n/a
24	chr2:234620385-234620435	BJ	skin:	n/a
25	chr2:234620385-234620435	HRE	kidney:	n/a
26	chr2:234621621-234621671	IMR90	lung:	fetal
27	chr2:234626464-234626514	U87	brain:	n/a
28	chr2:234620385-234620435	Caco-2	colon:	n/a
29	chr2:234622113-234622163	SK-N-SH	brain:	n/a
30	chr2:234621440-234621490	PFSK-1	brain:	n/a
31	chr2:234620463-234620513	ProgFib	skin:	n/a
32	chr2:234626464-234626514	HCM	heart:	n/a
33	chr2:234620385-234620435	A549	lung:	n/a
34	chr2:234621621-234621671	GM19239	blood:	n/a
35	chr2:234626084-234626134	AG04450	lung:	fetal
36	chr2:234621440-234621490	T-47D	breast:	n/a
37	chr2:234620385-234620435	HIPEpiC	eye:	n/a
38	chr2:234621621-234621671	NH-A	brain:	n/a
39	chr2:234620385-234620435	MCF-7	breast:	n/a
40	chr2:234621621-234621671	SAEC	small airway:	n/a
41	chr2:234626464-234626514	SK-N-SH	brain:	n/a
42	chr2:234621572-234621622	Caco-2	colon:	n/a
43	chr2:234621572-234621622	GM19239	blood:	n/a
44	chr2:234626084-234626134	HUVEC	blood vessel:	n/a
45	chr2:234626084-234626134	HCF	heart:	n/a
46	chr2:234621440-234621490	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:234620154-234620204	GM12892	blood:	n/a
48	chr2:234626464-234626514	HCF	heart:	n/a
49	chr2:234626351-234626401	HepG2	liver:	n/a
50	chr2:234626464-234626514	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234356803..234357518-chr2:234620184..234620760,2	MCF-7	breast:
2	chr2:234616675..234619386-chr2:234621500..234623443,3	MCF-7	breast:
3	chr2:234388450..234390817-chr2:234616855..234619470,2	MCF-7	breast:
4	chr2:234613252..234614909-chr2:234617932..234620320,3	MCF-7	breast:
5	chr2:234357834..234358362-chr2:234619860..234620685,2	MCF-7	breast:
6	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
7	chr2:234616675..234619386-chr2:234621500..234623443,3	MCF-7	breast:
8	chr2:234389181..234390135-chr2:234619766..234620786,6	MCF-7	breast:
9	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
10	chr2:234474046..234476375-chr2:234618981..234621894,3	MCF-7	breast:
11	chr2:234366581..234368147-chr2:234619420..234621425,2	MCF-7	breast:
12	chr2:234400105..234405009-chr2:234616033..234619892,4	MCF-7	breast:
13	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
14	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A4	TF binding region
ENSG00000224814	TF binding region
UGT1A5	TF binding region
UGT1A8	CpG island
UGT1A4	CpG island
ENSG00000224814	CpG island
UGT1A5	CpG island
ENSG00000240224	chromatin interactions
ENSG00000224814	chromatin interactions
ENSG00000167165	chromatin interactions
ENSG00000077044	chromatin interactions
ENSG00000085982	chromatin interactions

Extended variants
information (count: 444 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4408722	chr2:234618243-234618244	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554703505	chr2:234618342-234618343	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs190992275	chr2:234618379-234618380	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183310519	chr2:234618420-234618421	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs367805568	chr2:234618515-234618516	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs186719826	chr2:234618555-234618556	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs190818817	chr2:234618668-234618669	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs540103447	chr2:234618720-234618721	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs530644848	chr2:234618743-234618744	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs183297183	chr2:234618766-234618767	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs560967814	chr2:234618781-234618782	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs529654756	chr2:234618887-234618888	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs546531335	chr2:234618944-234618945	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs566439380	chr2:234618956-234618957	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs553386954	chr2:234618987-234618988	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs538501974	chr2:234619022-234619023	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs75518314	chr2:234619050-234619051	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs143150461	chr2:234619053-234619054	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs568926544	chr2:234619087-234619088	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs369445777	chr2:234619128-234619129	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs375891523	chr2:234619129-234619130	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs576426640	chr2:234619153-234619154	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs554761424	chr2:234619217-234619218	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs574815522	chr2:234619231-234619232	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs188029581	chr2:234619237-234619238	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs114746261	chr2:234619354-234619355	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs530604207	chr2:234619358-234619359	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs192565787	chr2:234619376-234619377	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs182447991	chr2:234619391-234619392	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs28898590	chr2:234619422-234619423	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576537163	chr2:234619428-234619429	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs544342575	chr2:234619443-234619444	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs187867245	chr2:234619448-234619449	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs78642251	chr2:234619519-234619520	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs539845882	chr2:234619530-234619531	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs541299321	chr2:234619543-234619544	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs34029944	chr2:234619599-234619600	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs140635768	chr2:234619624-234619625	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs532291825	chr2:234619633-234619634	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs76665810	chr2:234619724-234619725	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs145698870	chr2:234619734-234619735	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs369326612	chr2:234619736-234619737	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs138181984	chr2:234619738-234619739	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs568461565	chr2:234619758-234619759	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs562452811	chr2:234619795-234619796	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs141849516	chr2:234619823-234619824	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs531389064	chr2:234619864-234619865	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs2885295	chr2:234619866-234619867	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561495182	chr2:234619894-234619895	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs570843140	chr2:234619909-234619910	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234615000-234619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:234615400-234620400	Weak transcription	Pancreas	Pancrea
3	chr2:234615600-234620000	Weak transcription	Fetal Intestine Large	intestine
4	chr2:234616000-234618600	Weak transcription	Liver	Liver
5	chr2:234617000-234619800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234617200-234619000	Weak transcription	NHEK	skin
7	chr2:234617400-234619000	Enhancers	A549	lung
8	chr2:234617400-234619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:234617400-234619800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234617400-234620000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:234617800-234620400	Weak transcription	Esophagus	oesophagus
12	chr2:234617800-234631600	Weak transcription	Gastric	stomach
13	chr2:234618000-234618800	Weak transcription	Hela-S3	cervix
14	chr2:234618000-234619000	Weak transcription	Stomach Mucosa	stomach
15	chr2:234618600-234621400	Enhancers	Liver	Liver
16	chr2:234618800-234620400	Enhancers	Hela-S3	cervix
17	chr2:234619000-234619200	Enhancers	Stomach Mucosa	stomach
18	chr2:234619000-234619200	Strong transcription	NHEK	skin
19	chr2:234619000-234619400	Flanking Active TSS	A549	lung
20	chr2:234619200-234619600	Weak transcription	Stomach Mucosa	stomach
21	chr2:234619200-234619600	Weak transcription	NHEK	skin
22	chr2:234619400-234619800	Enhancers	A549	lung
23	chr2:234619600-234620000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:234619600-234620400	Genic enhancers	NHEK	skin
25	chr2:234619600-234620600	Enhancers	Stomach Mucosa	stomach
26	chr2:234619800-234620000	Flanking Active TSS	A549	lung
27	chr2:234619800-234620200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:234619800-234620200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:234619800-234620200	Enhancers	Osteobl	bone
30	chr2:234619800-234620400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:234619800-234620600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:234619800-234620600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:234619800-234623000	Enhancers	Thymus	Thymus
34	chr2:234620000-234620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:234620000-234620200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:234620000-234620400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:234620000-234620600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:234620000-234621200	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:234620000-234621400	Enhancers	Small Intestine	intestine
40	chr2:234620000-234621400	Enhancers	A549	lung
41	chr2:234620000-234622200	Enhancers	Fetal Intestine Large	intestine
42	chr2:234620200-234622200	Enhancers	Fetal Intestine Small	intestine
43	chr2:234620400-234620600	Enhancers	Esophagus	oesophagus
44	chr2:234620400-234620600	Enhancers	Pancreas	Pancrea
45	chr2:234620400-234620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:234620400-234622200	Strong transcription	NHEK	skin
47	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
48	chr2:234620600-234621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:234620600-234622200	Weak transcription	Pancreas	Pancrea
50	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus

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