Variant report

Variant	nsv877739
Chromosome Location	chr3:162159287-162229584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:162196526-162196643	K562	blood:	n/a	n/a
2	ATF3	chr3:162210124-162210804	A549	lung:	n/a	n/a
3	BACH1	chr3:162205043-162205091	H1-hESC	embryonic stem cell:	n/a	chr3:162205077-162205091
4	BCL3	chr3:162210121-162210895	A549	lung:	n/a	n/a
5	CEBPB	chr3:162209757-162210919	IMR90	lung:	n/a	chr3:162210491-162210504
6	CEBPB	chr3:162209739-162210089	MCF-7	breast:	n/a	n/a
7	CEBPB	chr3:162205022-162205310	IMR90	lung:	n/a	n/a
8	CEBPB	chr3:162219267-162219549	K562	blood:	n/a	chr3:162219429-162219440
9	CEBPB	chr3:162219255-162219607	HepG2	liver:	n/a	chr3:162219429-162219440
10	CEBPB	chr3:162209674-162210107	A549	lung:	n/a	n/a
11	CEBPB	chr3:162219248-162219620	IMR90	lung:	n/a	chr3:162219429-162219440
12	CEBPB	chr3:162219243-162219812	A549	lung:	n/a	chr3:162219429-162219440
13	CEBPB	chr3:162209604-162211122	A549	lung:	n/a	chr3:162210491-162210504
14	CEBPB	chr3:162177204-162177284	H1-hESC	embryonic stem cell:	n/a	chr3:162177255-162177266
15	CEBPB	chr3:162209719-162210974	Hela-S3	cervix:	n/a	chr3:162210491-162210504
16	CEBPB	chr3:162210151-162210916	A549	lung:	n/a	chr3:162210491-162210504
17	CEBPB	chr3:162209752-162210155	MCF-7	breast:	n/a	n/a
18	CEBPB	chr3:162177135-162177440	HepG2	liver:	n/a	chr3:162177255-162177266
19	CEBPB	chr3:162209758-162210932	A549	lung:	n/a	chr3:162210491-162210504
20	CTCF	chr3:162207742-162207875	Fibrobl	skin:	n/a	n/a
21	CTCF	chr3:162207820-162207970	BE2_C	brain:	n/a	n/a
22	CTCF	chr3:162178675-162178720	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr3:162207660-162207810	HMEC	breast:	n/a	n/a
24	CTCF	chr3:162208829-162208892	A549	lung:	n/a	n/a
25	CTCF	chr3:162207760-162207910	AG10803	skin:	n/a	n/a
26	CTCF	chr3:162207680-162207830	HCT-116	colon:	n/a	n/a
27	CTCF	chr3:162207660-162207810	HFF	foreskin:	n/a	n/a
28	CTCF	chr3:162165877-162165956	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr3:162207760-162207910	HCT-116	colon:	n/a	n/a
30	CTCF	chr3:162207800-162207950	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr3:162207777-162207925	LNCaP	prostate:	n/a	n/a
32	CTCF	chr3:162200181-162200209	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:162207705-162207892	T-47D	breast:	n/a	n/a
34	CTCF	chr3:162207806-162207883	Gliobla	brain:	n/a	n/a
35	CTCF	chr3:162207720-162207870	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr3:162214948-162215020	GM13976	blood:	n/a	n/a
37	CTCF	chr3:162207820-162207970	Caco-2	colon:	n/a	n/a
38	CTCF	chr3:162207780-162207930	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr3:162207740-162207890	Caco-2	colon:	n/a	n/a
40	CTCF	chr3:162207820-162207970	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr3:162207760-162207910	HCM	heart:	n/a	n/a
42	CTCF	chr3:162221103-162221152	LNCaP	prostate:	n/a	n/a
43	CTCF	chr3:162207740-162207890	HVMF	connective:	n/a	n/a
44	CTCF	chr3:162207720-162207870	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr3:162207696-162207969	HCT-116	colon:	n/a	n/a
46	CTCF	chr3:162207760-162207910	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr3:162207780-162207930	RPTEC	kidney:	n/a	n/a
48	CTCF	chr3:162207860-162208010	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr3:162207740-162207890	HEK293	kidney:	n/a	n/a
50	CTCF	chr3:162207751-162207879	ProgFib	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:162210236-162210286	MCF10A-Er-Src	breast:	n/a
2	chr3:162210236-162210286	SK-N-SH	brain:	n/a
3	chr3:162210236-162210286	HepG2	liver:	n/a
4	chr3:162210236-162210286	AoSMC	blood vessel:	n/a
5	chr3:162210236-162210286	BJ	skin:	n/a
6	chr3:162210236-162210286	NT2-D1	testis:	n/a
7	chr3:162210236-162210286	AG09319	gingival:	n/a
8	chr3:162210236-162210286	GM12878	blood:	n/a
9	chr3:162210236-162210286	GM19239	blood:	n/a
10	chr3:162210236-162210286	Hepatocyte	liver:	n/a
11	chr3:162210236-162210286	LNCaP	prostate:	n/a
12	chr3:162210236-162210286	GM06990	blood:	n/a
13	chr3:162210236-162210286	K562	blood:	n/a
14	chr3:162210236-162210286	NHBE	bronchial:	n/a
15	chr3:162210236-162210286	PANC-1	pancreas:	n/a
16	chr3:162210236-162210286	HRPEpiC	eye:	n/a
17	chr3:162210236-162210286	HCF	heart:	n/a
18	chr3:162210236-162210286	HCM	heart:	n/a
19	chr3:162210236-162210286	HIPEpiC	eye:	n/a
20	chr3:162210236-162210286	MCF-7	breast:	n/a
21	chr3:162210236-162210286	HAEpiC	amniotic membrane:	n/a
22	chr3:162210236-162210286	H1-hESC	embryonic stem cell:	embryo
23	chr3:162210236-162210286	Jurkat	blood:	n/a
24	chr3:162210236-162210286	IMR90	lung:	fetal
25	chr3:162210236-162210286	HCT-116	colon:	n/a
26	chr3:162210236-162210286	ProgFib	skin:	n/a
27	chr3:162210236-162210286	HL-60	blood:	n/a
28	chr3:162210236-162210286	ECC-1	luminal epithelium:	n/a
29	chr3:162210236-162210286	GM12892	blood:	n/a
30	chr3:162210236-162210286	PFSK-1	brain:	n/a
31	chr3:162210236-162210286	NHDF-neo	bronchial:	n/a
32	chr3:162210236-162210286	T-47D	breast:	n/a
33	chr3:162210236-162210286	CMK	blood:	n/a
34	chr3:162210236-162210286	NH-A	brain:	n/a
35	chr3:162210236-162210286	AG10803	skin:	n/a
36	chr3:162210236-162210286	PrEC	prostate:	n/a
37	chr3:162210236-162210286	BE2_C	brain:	n/a
38	chr3:162210236-162210286	SKMC	muscle:	n/a
39	chr3:162210236-162210286	HMEC	breast:	n/a
40	chr3:162210236-162210286	Hela-S3	cervix:	n/a
41	chr3:162210236-162210286	GM12891	blood:	n/a
42	chr3:162210236-162210286	HRCEpiC	kidney:	n/a
43	chr3:162210236-162210286	HUVEC	blood vessel:	n/a
44	chr3:162210236-162210286	SK-N-MC	brain:	n/a
45	chr3:162210236-162210286	HRE	kidney:	n/a
46	chr3:162210236-162210286	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:162210236-162210286	SAEC	small airway:	n/a
48	chr3:162210236-162210286	AG04449	skin:	fetal
49	chr3:162210236-162210286	HEEpiC	esophagus:	n/a
50	chr3:162210236-162210286	HEK293	kidney:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:
2	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:
3	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTSSB-7	chr3:162204329-162204737	NONHSAT093022

No data

Variant related genes	Relation type
TOMM22P6	TF binding region
TOMM22P6	CpG island

Extended variants
information (count: 818 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12488584	chr3:162159287-162159288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373066386	chr3:162159326-162159327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532920149	chr3:162159328-162159329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78247102	chr3:162159346-162159347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184169105	chr3:162159354-162159355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529025377	chr3:162159364-162159365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187591495	chr3:162159382-162159383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191179614	chr3:162159388-162159389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531956052	chr3:162159413-162159414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114773337	chr3:162159416-162159417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35253108	chr3:162159417-162159418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75341235	chr3:162159435-162159436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11709803	chr3:162159472-162159473	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7650060	chr3:162159500-162159501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567596744	chr3:162159550-162159551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4856688	chr3:162159552-162159553	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144123022	chr3:162159554-162159555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555513849	chr3:162159580-162159581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147138940	chr3:162159616-162159617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575316443	chr3:162159689-162159690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544409392	chr3:162159708-162159709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148621904	chr3:162159720-162159721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578001152	chr3:162159723-162159724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10536145	chr3:162159791-162159792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79489141	chr3:162159793-162159794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376299650	chr3:162159798-162159799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199511846	chr3:162159799-162159800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540229757	chr3:162159808-162159809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2873759	chr3:162159814-162159815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528965910	chr3:162159864-162159865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13065889	chr3:162159936-162159937	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115283331	chr3:162159967-162159968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531771678	chr3:162159997-162159998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113679709	chr3:162160005-162160006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569456161	chr3:162160007-162160008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5853979	chr3:162160025-162160026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs33955060	chr3:162160026-162160027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4481170	chr3:162160072-162160073	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142090917	chr3:162160187-162160188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6441477	chr3:162160194-162160195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567579811	chr3:162160224-162160225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536669659	chr3:162160306-162160307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150751525	chr3:162160334-162160335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534316984	chr3:162160340-162160341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576755517	chr3:162160380-162160381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537595633	chr3:162160422-162160423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74436388	chr3:162160426-162160427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577990617	chr3:162160559-162160560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7614903	chr3:162160577-162160578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554131812	chr3:162160579-162160580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162157200-162161200	Weak transcription	Dnd41	blood
2	chr3:162159400-162160200	Enhancers	Fetal Heart	heart
3	chr3:162161200-162161400	Enhancers	Dnd41	blood
4	chr3:162161400-162169600	Weak transcription	Dnd41	blood
5	chr3:162167000-162168600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:162176200-162176400	ZNF genes & repeats	Pancreas	Pancrea
7	chr3:162177400-162177800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:162177600-162178000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:162204000-162204800	Enhancers	Dnd41	blood
10	chr3:162204800-162213000	Weak transcription	Dnd41	blood
11	chr3:162205400-162206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:162205800-162206200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr3:162206200-162210000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:162208800-162209200	Enhancers	A549	lung
15	chr3:162209200-162209600	Weak transcription	A549	lung
16	chr3:162209600-162209800	Enhancers	Osteobl	bone
17	chr3:162209600-162210000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:162209600-162210200	Enhancers	A549	lung
19	chr3:162209600-162211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:162209800-162210000	Flanking Active TSS	Osteobl	bone
21	chr3:162209800-162210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:162209800-162211000	Enhancers	Hela-S3	cervix
23	chr3:162209800-162211200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:162209800-162211200	Enhancers	NH-A	brain
25	chr3:162209800-162211200	Enhancers	NHDF-Ad	bronchial
26	chr3:162210000-162210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:162210000-162210200	Enhancers	Osteobl	bone
28	chr3:162210000-162210400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:162210000-162210600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:162210000-162211600	Enhancers	HSMM	muscle
31	chr3:162210200-162210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:162210200-162210400	Flanking Active TSS	A549	lung
33	chr3:162210200-162210600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:162210200-162210600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:162210200-162210600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:162210200-162210600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:162210200-162210600	Flanking Active TSS	Osteobl	bone
38	chr3:162210200-162210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:162210200-162211200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:162210200-162211200	Enhancers	Fetal Heart	heart
41	chr3:162210200-162211200	Enhancers	HSMMtube	muscle
42	chr3:162210400-162210800	Active TSS	A549	lung
43	chr3:162210600-162211000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:162210600-162211000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:162210600-162211200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:162210600-162211200	Enhancers	Osteobl	bone
47	chr3:162210600-162212000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:162210800-162211400	Enhancers	A549	lung
49	chr3:162211000-162211200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr3:162211200-162212000	Enhancers	Muscle Satellite Cultured Cells	--

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