Variant report

Variant	esv1824954
Chromosome Location	chr5:180034220-180080178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:557)
CpG islands
(count:3420)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:180038092-180038427	K562	blood:	n/a	n/a
2	ATF3	chr5:180038227-180038391	K562	blood:	n/a	n/a
3	CBX3	chr5:180038124-180038384	K562	blood:	n/a	n/a
4	CREB1	chr5:180038106-180038434	A549	lung:	n/a	n/a
5	CREB1	chr5:180045842-180046437	A549	lung:	n/a	n/a
6	CREB1	chr5:180038094-180038561	K562	blood:	n/a	n/a
7	CREB1	chr5:180058933-180059230	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr5:180075851-180076164	A549	lung:	n/a	n/a
9	CTCF	chr5:180038196-180038473	Gliobla	brain:	n/a	chr5:180038313-180038321
10	CTCF	chr5:180035640-180035790	GM12866	blood:	n/a	n/a
11	CTCF	chr5:180075920-180076070	GM12871	blood:	n/a	chr5:180076001-180076019 chr5:180076003-180076016
12	CTCF	chr5:180046000-180046150	GM12866	blood:	n/a	n/a
13	CTCF	chr5:180038314-180038362	NHEK	skin:	n/a	n/a
14	CTCF	chr5:180075960-180076110	GM12868	blood:	n/a	chr5:180076001-180076019 chr5:180076003-180076016
15	CTCF	chr5:180046260-180046410	GM12869	blood:	n/a	n/a
16	CTCF	chr5:180046240-180046390	GM12873	blood:	n/a	n/a
17	CTCF	chr5:180075897-180076128	A549	lung:	n/a	chr5:180076001-180076019 chr5:180076003-180076016
18	CTCF	chr5:180046077-180046094	GM19239	blood:	n/a	n/a
19	CTCF	chr5:180046253-180046430	K562	blood:	n/a	n/a
20	CTCF	chr5:180075920-180076070	GM12865	blood:	n/a	chr5:180076001-180076019 chr5:180076003-180076016
21	CTCF	chr5:180038158-180038415	A549	lung:	n/a	chr5:180038313-180038321
22	CTCF	chr5:180062384-180062431	GM19239	blood:	n/a	n/a
23	CTCF	chr5:180046320-180046470	K562	blood:	n/a	n/a
24	CTCF	chr5:180075940-180076090	HEK293	kidney:	n/a	chr5:180076001-180076019 chr5:180076003-180076016
25	CTCF	chr5:180039746-180039776	GM12892	blood:	n/a	n/a
26	CTCF	chr5:180045788-180046715	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr5:180046187-180046190	Medullo	brain:	n/a	n/a
28	CTCF	chr5:180045981-180046444	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr5:180046600-180046750	AG04449	skin:	n/a	n/a
30	CTCF	chr5:180060860-180061010	K562	blood:	n/a	n/a
31	CTCF	chr5:180046260-180046410	HEK293	kidney:	n/a	n/a
32	CTCF	chr5:180038245-180038449	A549	lung:	n/a	chr5:180038313-180038321
33	CTCF	chr5:180046320-180046470	SAEC	small airway:	n/a	n/a
34	CTCF	chr5:180075998-180076043	GM10248	blood:	n/a	chr5:180076001-180076019 chr5:180076003-180076016
35	CTCF	chr5:180046240-180046390	K562	blood:	n/a	n/a
36	CTCF	chr5:180051679-180051730	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:180045806-180046564	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr5:180075940-180076090	RPTEC	kidney:	n/a	chr5:180076001-180076019 chr5:180076003-180076016
39	CTCF	chr5:180051718-180051778	GM10266	blood:	n/a	n/a
40	CTCF	chr5:180046260-180046410	RPTEC	kidney:	n/a	n/a
41	CTCF	chr5:180038320-180038470	A549	lung:	n/a	n/a
42	CTCF	chr5:180046260-180046410	AG10803	skin:	n/a	n/a
43	CTCF	chr5:180045980-180046130	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr5:180046080-180046230	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr5:180046168-180046428	A549	lung:	n/a	n/a
46	CTCF	chr5:180038293-180038365	GM19239	blood:	n/a	chr5:180038313-180038321
47	CTCF	chr5:180046238-180046458	Lung_OC	lung:	n/a	n/a
48	CTCF	chr5:180046596-180046679	LNCaP	prostate:	n/a	n/a
49	CTCF	chr5:180060903-180061058	K562	blood:	n/a	n/a
50	CTCF	chr5:180046160-180046310	WI-38	lung:	n/a	n/a

(count:3420 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180035837-180035887	AG04449	skin:	fetal
2	chr5:180073429-180073479	HCT-116	colon:	n/a
3	chr5:180071756-180071806	AoSMC	blood vessel:	n/a
4	chr5:180041908-180041958	NB4	blood:	n/a
5	chr5:180035837-180035887	AG04449	skin:	fetal
6	chr5:180073429-180073479	HCT-116	colon:	n/a
7	chr5:180071756-180071806	AoSMC	blood vessel:	n/a
8	chr5:180041908-180041958	NB4	blood:	n/a
9	chr5:180071709-180071759	SK-N-SH_RA	brain:	n/a
10	chr5:180076168-180076218	SK-N-SH_RA	brain:	n/a
11	chr5:180076905-180076955	GM06990	blood:	n/a
12	chr5:180059096-180059146	Jurkat	blood:	n/a
13	chr5:180056580-180056630	CMK	blood:	n/a
14	chr5:180048155-180048205	ECC-1	luminal epithelium:	n/a
15	chr5:180046901-180046951	PrEC	prostate:	n/a
16	chr5:180047299-180047349	Jurkat	blood:	n/a
17	chr5:180079228-180079278	IMR90	lung:	fetal
18	chr5:180071709-180071759	SKMC	muscle:	n/a
19	chr5:180047686-180047736	NH-A	brain:	n/a
20	chr5:180047407-180047457	AG09309	skin:	n/a
21	chr5:180042471-180042521	HUVEC	blood vessel:	n/a
22	chr5:180072420-180072470	HMEC	breast:	n/a
23	chr5:180055982-180056032	HCPEpiC	choroid plexus:	n/a
24	chr5:180036446-180036496	T-47D	breast:	n/a
25	chr5:180074878-180074928	Jurkat	blood:	n/a
26	chr5:180044026-180044076	ProgFib	skin:	n/a
27	chr5:180038655-180038705	GM12891	blood:	n/a
28	chr5:180073780-180073830	SK-N-MC	brain:	n/a
29	chr5:180056040-180056090	HUVEC	blood vessel:	n/a
30	chr5:180046528-180046578	HRPEpiC	eye:	n/a
31	chr5:180073780-180073830	NH-A	brain:	n/a
32	chr5:180059096-180059146	HUVEC	blood vessel:	n/a
33	chr5:180057303-180057353	HEEpiC	esophagus:	n/a
34	chr5:180073137-180073187	PFSK-1	brain:	n/a
35	chr5:180047299-180047349	NHDF-neo	bronchial:	n/a
36	chr5:180057034-180057084	HL-60	blood:	n/a
37	chr5:180036446-180036496	HCF	heart:	n/a
38	chr5:180071709-180071759	HIPEpiC	eye:	n/a
39	chr5:180074878-180074928	HIPEpiC	eye:	n/a
40	chr5:180071709-180071759	RPTEC	kidney:	n/a
41	chr5:180076481-180076531	A549	lung:	n/a
42	chr5:180057594-180057644	Caco-2	colon:	n/a
43	chr5:180048893-180048943	IMR90	lung:	fetal
44	chr5:180071709-180071759	AG09309	skin:	n/a
45	chr5:180045822-180045872	MCF-7	breast:	n/a
46	chr5:180052364-180052414	GM12892	blood:	n/a
47	chr5:180047299-180047349	AG10803	skin:	n/a
48	chr5:180071816-180071866	SK-N-SH	brain:	n/a
49	chr5:180075875-180075925	BE2_C	brain:	n/a
50	chr5:180057594-180057644	SK-N-MC	brain:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:
2	chr5:180033145..180034677-chr5:180036724..180038959,2	MCF-7	breast:
3	chr5:180067823..180069604-chr5:180072708..180075164,2	K562	blood:
4	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:
5	chr5:179758608..179760983-chr5:180044449..180046070,2	MCF-7	breast:
6	chr5:180017444..180018982-chr5:180034267..180036665,2	MCF-7	breast:
7	chr5:180033053..180035793-chr5:180035814..180039937,3	K562	blood:
8	chr5:180030276..180031977-chr5:180049658..180052103,2	MCF-7	breast:
9	chr5:180029601..180031861-chr5:180034178..180035755,2	K562	blood:
10	chr5:180044847..180047372-chr5:180048996..180050512,2	K562	blood:
11	chr5:180052176..180054289-chr5:180056133..180059074,3	MCF-7	breast:
12	chr5:180034337..180037411-chr5:180040154..180043371,4	MCF-7	breast:
13	chr5:180051235..180053741-chr5:180054610..180058069,3	K562	blood:
14	chr5:180076787..180079357-chr5:180092252..180095157,2	K562	blood:
15	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:
16	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:
17	chr5:179799196..179802015-chr5:180050331..180053003,2	MCF-7	breast:
18	chr5:179920260..179922999-chr5:180038598..180040134,2	MCF-7	breast:
19	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
20	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
21	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
22	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
23	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:
24	chr5:180046012..180054191-chr5:180056996..180060440,8	K562	blood:
25	chr5:180035679..180038320-chr5:180045902..180049643,3	MCF-7	breast:
26	chr5:180031301..180033388-chr5:180043244..180045976,2	MCF-7	breast:
27	chr5:179921107..179922607-chr5:180049466..180050983,2	MCF-7	breast:
28	chr5:180067823..180069604-chr5:180072708..180075164,2	K562	blood:
29	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:

No data

Variant related genes	Relation type
FLT4	TF binding region
FLT4	CpG island
ENSG00000113300	chromatin interactions
ENSG00000131459	chromatin interactions
ENSG00000161055	chromatin interactions
ENSG00000037280	chromatin interactions

Extended variants
information (count: 2662 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2662 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190964926	chr5:180034230-180034231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28495673	chr5:180034237-180034238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530337585	chr5:180034256-180034257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547179336	chr5:180034267-180034268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35771448	chr5:180034273-180034274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183143737	chr5:180034279-180034280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539276511	chr5:180034313-180034314	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370418490	chr5:180034334-180034335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558985423	chr5:180034359-180034360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533815842	chr5:180034363-180034364	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559529886	chr5:180034365-180034366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs4312841	chr5:180034374-180034375	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556666225	chr5:180034375-180034376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542349996	chr5:180034376-180034377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146545346	chr5:180034379-180034380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545915430	chr5:180034402-180034403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572948447	chr5:180034409-180034410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545326292	chr5:180034420-180034421	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565017424	chr5:180034444-180034445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs35139110	chr5:180034453-180034454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187384017	chr5:180034456-180034457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35743545	chr5:180034464-180034465	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544587321	chr5:180034509-180034510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs13165395	chr5:180034513-180034514	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113893610	chr5:180034521-180034522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13161459	chr5:180034536-180034537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530174876	chr5:180034549-180034550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374798676	chr5:180034559-180034560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13179849	chr5:180034584-180034585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541069129	chr5:180034596-180034597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs13161505	chr5:180034619-180034620	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192824109	chr5:180034628-180034629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs56013089	chr5:180034639-180034640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs36124722	chr5:180034645-180034646	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs398000128	chr5:180034651-180034652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569427905	chr5:180034656-180034657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs533207538	chr5:180034662-180034663	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200720458	chr5:180034663-180034664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35132134	chr5:180034674-180034675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551018609	chr5:180034679-180034680	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555020005	chr5:180034715-180034716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536670820	chr5:180034719-180034720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549874364	chr5:180034768-180034769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376680978	chr5:180034781-180034782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1049095	chr5:180034823-180034824	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567032652	chr5:180034826-180034827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76764484	chr5:180034855-180034856	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs199943664	chr5:180034900-180034901	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535987522	chr5:180034902-180034903	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs79748074	chr5:180034940-180034941	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180018800-180045800	Weak transcription	Right Atrium	heart
2	chr5:180024000-180039000	Weak transcription	Gastric	stomach
3	chr5:180027800-180039600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:180028000-180039200	Weak transcription	Lung	lung
5	chr5:180029400-180045600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:180029800-180043200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:180030400-180035200	Weak transcription	HUVEC	blood vessel
8	chr5:180031600-180035600	Weak transcription	Spleen	Spleen
9	chr5:180031600-180037200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:180033200-180039200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:180033600-180034600	Enhancers	Placenta	Placenta
12	chr5:180033600-180034800	Weak transcription	K562	blood
13	chr5:180033800-180035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:180034600-180035400	Weak transcription	Placenta	Placenta
15	chr5:180034800-180035200	Enhancers	K562	blood
16	chr5:180034800-180035600	Enhancers	HSMMtube	muscle
17	chr5:180035200-180035800	Flanking Active TSS	K562	blood
18	chr5:180035200-180036200	Enhancers	HUVEC	blood vessel
19	chr5:180035400-180035600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:180035400-180035600	Enhancers	Placenta	Placenta
21	chr5:180035400-180035800	Bivalent Enhancer	HepG2	liver
22	chr5:180035600-180037600	Bivalent Enhancer	Placenta	Placenta
23	chr5:180035600-180037600	Strong transcription	Spleen	Spleen
24	chr5:180035600-180043400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:180035800-180036000	Enhancers	K562	blood
26	chr5:180036000-180036400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:180036200-180036600	Weak transcription	HUVEC	blood vessel
28	chr5:180036600-180036800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:180036600-180037200	Enhancers	HUVEC	blood vessel
30	chr5:180037200-180037600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:180037200-180037600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:180037200-180041000	Weak transcription	HUVEC	blood vessel
33	chr5:180037200-180043200	Weak transcription	Adipose Nuclei	Adipose
34	chr5:180037400-180043400	Weak transcription	Right Ventricle	heart
35	chr5:180037600-180038800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:180037600-180039000	Weak transcription	Spleen	Spleen
37	chr5:180037600-180039200	Enhancers	Placenta	Placenta
38	chr5:180038000-180038200	Bivalent Enhancer	HepG2	liver
39	chr5:180038200-180038400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:180038800-180039200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:180039000-180039400	Genic enhancers	Spleen	Spleen
42	chr5:180039000-180040000	Strong transcription	Gastric	stomach
43	chr5:180039200-180039400	Genic enhancers	Lung	lung
44	chr5:180039200-180039800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:180039200-180040000	Bivalent Enhancer	Placenta	Placenta
46	chr5:180039200-180041400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:180039400-180040600	Strong transcription	Lung	lung
48	chr5:180039400-180040800	Strong transcription	Spleen	Spleen
49	chr5:180039600-180044000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:180039800-180041400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links