Variant report

Variant	esv3413368
Chromosome Location	chr2:234652296-234663778
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	chr2:234653876-234654428	HepG2	liver:	n/a	n/a
2	ATF3	chr2:234653988-234654486	A549	lung:	n/a	n/a
3	BCL3	chr2:234653885-234654544	A549	lung:	n/a	n/a
4	BCL3	chr2:234653958-234654499	A549	lung:	n/a	n/a
5	BHLHE40	chr2:234654058-234654451	HepG2	liver:	n/a	n/a
6	CBX3	chr2:234659353-234659614	K562	blood:	n/a	n/a
7	CEBPB	chr2:234656935-234657273	A549	lung:	n/a	chr2:234657082-234657093 chr2:234657082-234657093 chr2:234657104-234657115
8	CEBPB	chr2:234653961-234654410	HepG2	liver:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
9	CEBPB	chr2:234653979-234654335	HepG2	liver:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
10	CEBPB	chr2:234657008-234657264	IMR90	lung:	n/a	chr2:234657082-234657093 chr2:234657082-234657093 chr2:234657104-234657115
11	CEBPB	chr2:234653902-234654598	HepG2	liver:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
12	CEBPB	chr2:234653892-234654497	A549	lung:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
13	CEBPB	chr2:234654020-234654389	A549	lung:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
14	CEBPB	chr2:234656934-234657289	HepG2	liver:	n/a	chr2:234657082-234657093 chr2:234657082-234657093 chr2:234657104-234657115
15	CEBPB	chr2:234653908-234654385	HepG2	liver:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
16	CEBPB	chr2:234653943-234654318	A549	lung:	n/a	chr2:234654071-234654082 chr2:234654069-234654086 chr2:234654118-234654130
17	CEBPD	chr2:234654049-234654478	HepG2	liver:	n/a	n/a
18	CHD2	chr2:234654164-234654273	HepG2	liver:	n/a	n/a
19	CREB1	chr2:234654062-234654459	A549	lung:	n/a	n/a
20	CREB1	chr2:234654194-234654509	A549	lung:	n/a	n/a
21	CREB1	chr2:234653968-234654547	HepG2	liver:	n/a	n/a
22	CREB1	chr2:234653888-234654608	HepG2	liver:	n/a	n/a
23	EP300	chr2:234653868-234654574	HepG2	liver:	n/a	chr2:234654068-234654082
24	EP300	chr2:234653700-234654700	A549	lung:	n/a	chr2:234654068-234654082 chr2:234653862-234653871
25	EP300	chr2:234653933-234654548	HepG2	liver:	n/a	chr2:234654068-234654082
26	EP300	chr2:234653810-234654542	A549	lung:	n/a	chr2:234654068-234654082 chr2:234653862-234653871
27	EP300	chr2:234654030-234654453	HepG2	liver:	n/a	chr2:234654068-234654082
28	FOSL2	chr2:234654000-234654628	HepG2	liver:	n/a	n/a
29	FOSL2	chr2:234654004-234654404	A549	lung:	n/a	n/a
30	FOSL2	chr2:234653860-234654613	A549	lung:	n/a	n/a
31	FOSL2	chr2:234653946-234654485	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:234653871-234654608	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:234653830-234654570	HepG2	liver:	n/a	n/a
34	FOXA1	chr2:234653906-234654589	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:234653527-234654585	HepG2	liver:	n/a	n/a
36	FOXA2	chr2:234653884-234654483	HepG2	liver:	n/a	n/a
37	FOXA2	chr2:234653696-234654749	HepG2	liver:	n/a	n/a
38	FOXA2	chr2:234653649-234654629	A549	lung:	n/a	n/a
39	FOXA2	chr2:234653954-234654644	A549	lung:	n/a	n/a
40	GATA3	chr2:234653893-234654633	A549	lung:	n/a	n/a
41	GATA3	chr2:234653885-234654644	A549	lung:	n/a	n/a
42	HDAC2	chr2:234653853-234654551	HepG2	liver:	n/a	n/a
43	HDAC2	chr2:234653902-234654531	HepG2	liver:	n/a	n/a
44	HEY1	chr2:234652495-234652743	K562	blood:	n/a	n/a
45	HNF4A	chr2:234653907-234654493	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654233-234654248 chr2:234654285-234654298
46	HNF4A	chr2:234653992-234654483	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654233-234654248 chr2:234654285-234654298
47	HNF4A	chr2:234654029-234654486	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654233-234654248 chr2:234654285-234654298
48	HNF4G	chr2:234653874-234654479	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654285-234654298
49	HNF4G	chr2:234653857-234654583	HepG2	liver:	n/a	chr2:234654285-234654298 chr2:234654285-234654300 chr2:234654281-234654303 chr2:234654285-234654298
50	JUN	chr2:234654021-234654371	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234662401-234662451	GM12891	blood:	n/a
2	chr2:234652363-234652413	HNPCEpiC	eye:	n/a
3	chr2:234652601-234652651	HNPCEpiC	eye:	n/a
4	chr2:234652669-234652719	Hela-S3	cervix:	n/a
5	chr2:234661536-234661586	HMEC	breast:	n/a
6	chr2:234652601-234652651	AG04450	lung:	fetal
7	chr2:234652601-234652651	MCF-7	breast:	n/a
8	chr2:234652681-234652731	BJ	skin:	n/a
9	chr2:234662401-234662451	PFSK-1	brain:	n/a
10	chr2:234662759-234662809	AG10803	skin:	n/a
11	chr2:234662759-234662809	HRE	kidney:	n/a
12	chr2:234652669-234652719	HNPCEpiC	eye:	n/a
13	chr2:234652363-234652413	BE2_C	brain:	n/a
14	chr2:234652601-234652651	NT2-D1	testis:	n/a
15	chr2:234663729-234663779	IMR90	lung:	fetal
16	chr2:234661536-234661586	LNCaP	prostate:	n/a
17	chr2:234652466-234652516	SAEC	small airway:	n/a
18	chr2:234652466-234652516	HEEpiC	esophagus:	n/a
19	chr2:234663729-234663779	HUVEC	blood vessel:	n/a
20	chr2:234652466-234652516	LNCaP	prostate:	n/a
21	chr2:234652466-234652516	AG09319	gingival:	n/a
22	chr2:234652363-234652413	GM19239	blood:	n/a
23	chr2:234652363-234652413	AG09309	skin:	n/a
24	chr2:234652466-234652516	AG09309	skin:	n/a
25	chr2:234662401-234662451	AG04450	lung:	fetal
26	chr2:234652681-234652731	GM06990	blood:	n/a
27	chr2:234661536-234661586	K562	blood:	n/a
28	chr2:234652466-234652516	CMK	blood:	n/a
29	chr2:234655709-234655759	HCF	heart:	n/a
30	chr2:234661536-234661586	H1-hESC	embryonic stem cell:	embryo
31	chr2:234661536-234661586	ProgFib	skin:	n/a
32	chr2:234653891-234653941	Hela-S3	cervix:	n/a
33	chr2:234662759-234662809	NHBE	bronchial:	n/a
34	chr2:234662759-234662809	HIPEpiC	eye:	n/a
35	chr2:234661536-234661586	SKMC	muscle:	n/a
36	chr2:234652363-234652413	NT2-D1	testis:	n/a
37	chr2:234652669-234652719	HEK293	kidney:	embryo
38	chr2:234653891-234653941	HNPCEpiC	eye:	n/a
39	chr2:234652601-234652651	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:234652669-234652719	K562	blood:	n/a
41	chr2:234663729-234663779	NH-A	brain:	n/a
42	chr2:234652601-234652651	HL-60	blood:	n/a
43	chr2:234652363-234652413	U87	brain:	n/a
44	chr2:234652363-234652413	AG04449	skin:	fetal
45	chr2:234652669-234652719	NHBE	bronchial:	n/a
46	chr2:234663729-234663779	PrEC	prostate:	n/a
47	chr2:234652466-234652516	HCPEpiC	choroid plexus:	n/a
48	chr2:234652466-234652516	HRCEpiC	kidney:	n/a
49	chr2:234652681-234652731	NHDF-neo	bronchial:	n/a
50	chr2:234652669-234652719	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234651385..234654197-chr2:234659573..234662296,2	MCF-7	breast:
2	chr2:234660399..234662742-chr2:234667989..234670944,2	MCF-7	breast:
3	chr2:234650134..234652973-chr2:234653062..234655371,2	MCF-7	breast:
4	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
5	chr17:63274126..63274957-chr2:234657055..234657979,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT1A1-1	chr2:234659263-234659366	NONHSAT077510
2	lnc-UGT1A1-1	chr2:234660991-234661189	NONHSAT077510
3	lnc-UGT1A1-1	chr2:234661849-234662302	NONHSAT077510
4	lnc-HJURP-4	chr2:234662962-234663437	NR_037696

Variant related genes	Relation type
UGT1A2P	TF binding region
ENSG00000248705	TF binding region
DNAJB3	TF binding region
UGT1A2P	CpG island
ENSG00000248705	CpG island
DNAJB3	CpG island
ENSG00000234143	chromatin interactions
ENSG00000227802	chromatin interactions
ENSG00000242366	chromatin interactions
ENSG00000241635	chromatin interactions
ENSG00000242515	chromatin interactions

Extended variants
information (count: 551 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556129739	chr2:234652296-234652297	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367682058	chr2:234652301-234652302	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528527073	chr2:234652302-234652303	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34622615	chr2:234652308-234652309	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200311210	chr2:234652309-234652310	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201017854	chr2:234652313-234652314	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371916153	chr2:234652322-234652323	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555741522	chr2:234652326-234652327	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192235508	chr2:234652331-234652332	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368518074	chr2:234652337-234652338	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184388078	chr2:234652338-234652339	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375498105	chr2:234652340-234652341	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368889261	chr2:234652344-234652345	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373107890	chr2:234652346-234652347	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13009407	chr2:234652347-234652348	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200396442	chr2:234652349-234652350	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199592554	chr2:234652356-234652357	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189214805	chr2:234652376-234652377	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs373030535	chr2:234652377-234652378	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs377618743	chr2:234652385-234652386	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs370997418	chr2:234652386-234652387	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs374389189	chr2:234652387-234652388	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs377755645	chr2:234652388-234652389	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs527503361	chr2:234652392-234652393	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs370175895	chr2:234652393-234652394	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs547258685	chr2:234652400-234652401	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs374421270	chr2:234652413-234652414	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs367921172	chr2:234652419-234652420	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370785747	chr2:234652420-234652421	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374115440	chr2:234652431-234652432	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs77053267	chr2:234652437-234652438	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373771428	chr2:234652444-234652445	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181906347	chr2:234652448-234652449	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs568702968	chr2:234652449-234652450	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375309664	chr2:234652467-234652468	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs569722093	chr2:234652478-234652479	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs529549093	chr2:234652481-234652482	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs62191918	chr2:234652482-234652483	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371252305	chr2:234652483-234652484	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs556044106	chr2:234652485-234652486	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375874968	chr2:234652497-234652498	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs369107156	chr2:234652509-234652510	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs373345166	chr2:234652529-234652530	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376911193	chr2:234652536-234652537	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs371617871	chr2:234652541-234652542	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201448352	chr2:234652560-234652561	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs374192063	chr2:234652565-234652566	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs536470196	chr2:234652567-234652568	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs558062868	chr2:234652590-234652591	Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs184316279	chr2:234652602-234652603	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
2	chr2:234626600-234668400	Weak transcription	NHEK	skin
3	chr2:234646400-234666600	Weak transcription	Stomach Mucosa	stomach
4	chr2:234647800-234655000	Weak transcription	Gastric	stomach
5	chr2:234649800-234658800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:234650400-234652600	Genic enhancers	Liver	Liver
7	chr2:234651000-234652800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:234652200-234652600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:234652200-234652600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:234652200-234652600	ZNF genes & repeats	Esophagus	oesophagus
11	chr2:234652200-234652800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:234652400-234652600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:234652600-234654400	Enhancers	Liver	Liver
14	chr2:234652600-234654600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:234652800-234658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:234652800-234659200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:234653200-234654400	Enhancers	HepG2	liver
18	chr2:234653200-234655600	Enhancers	Fetal Intestine Small	intestine
19	chr2:234653400-234653800	Enhancers	A549	lung
20	chr2:234653800-234654200	Active TSS	A549	lung
21	chr2:234654200-234654800	Enhancers	Small Intestine	intestine
22	chr2:234654200-234655000	Enhancers	A549	lung
23	chr2:234654200-234655400	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:234654200-234655400	Enhancers	Fetal Intestine Large	intestine
25	chr2:234654400-234654600	Flanking Active TSS	HepG2	liver
26	chr2:234654400-234656000	Flanking Active TSS	Liver	Liver
27	chr2:234654600-234655800	Bivalent Enhancer	HepG2	liver
28	chr2:234655000-234655200	Flanking Active TSS	A549	lung
29	chr2:234655000-234655600	Enhancers	Gastric	stomach
30	chr2:234655200-234655400	Enhancers	A549	lung
31	chr2:234655400-234655600	Flanking Active TSS	A549	lung
32	chr2:234655400-234656200	Enhancers	Pancreas	Pancrea
33	chr2:234655600-234656200	Enhancers	A549	lung
34	chr2:234656000-234656600	Enhancers	Liver	Liver
35	chr2:234656200-234659000	Weak transcription	A549	lung
36	chr2:234656600-234657000	Flanking Active TSS	Liver	Liver
37	chr2:234657000-234657200	Enhancers	Liver	Liver
38	chr2:234657200-234657600	Flanking Active TSS	Liver	Liver
39	chr2:234657600-234658000	Active TSS	Liver	Liver
40	chr2:234658000-234658200	Flanking Active TSS	Liver	Liver
41	chr2:234658200-234660600	Enhancers	Liver	Liver
42	chr2:234658200-234664000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:234659200-234659800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:234659600-234660200	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr2:234659600-234660800	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr2:234659800-234661800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:234660000-234666200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:234660200-234666400	Weak transcription	Colonic Mucosa	Colon
49	chr2:234660600-234663800	Weak transcription	Liver	Liver
50	chr2:234661400-234662000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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