Variant report

Variant	nsv877732
Chromosome Location	chr3:162113116-162236885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:414)
CpG islands
(count:123)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	ATF1	chr3:162155356-162155600	K562	blood:	n/a	n/a
3	ATF3	chr3:162210124-162210804	A549	lung:	n/a	n/a
4	BACH1	chr3:162205043-162205091	H1-hESC	embryonic stem cell:	n/a	chr3:162205077-162205091
5	BCL3	chr3:162210121-162210895	A549	lung:	n/a	n/a
6	CCNT2	chr3:162113799-162113999	K562	blood:	n/a	n/a
7	CEBPB	chr3:162219255-162219607	HepG2	liver:	n/a	chr3:162219429-162219440
8	CEBPB	chr3:162219267-162219549	K562	blood:	n/a	chr3:162219429-162219440
9	CEBPB	chr3:162177204-162177284	H1-hESC	embryonic stem cell:	n/a	chr3:162177255-162177266
10	CEBPB	chr3:162209757-162210919	IMR90	lung:	n/a	chr3:162210491-162210504
11	CEBPB	chr3:162151375-162151576	HepG2	liver:	n/a	chr3:162151476-162151487
12	CEBPB	chr3:162177135-162177440	HepG2	liver:	n/a	chr3:162177255-162177266
13	CEBPB	chr3:162209604-162211122	A549	lung:	n/a	chr3:162210491-162210504
14	CEBPB	chr3:162219243-162219812	A549	lung:	n/a	chr3:162219429-162219440
15	CEBPB	chr3:162209752-162210155	MCF-7	breast:	n/a	n/a
16	CEBPB	chr3:162209674-162210107	A549	lung:	n/a	n/a
17	CEBPB	chr3:162205022-162205310	IMR90	lung:	n/a	n/a
18	CEBPB	chr3:162209758-162210932	A549	lung:	n/a	chr3:162210491-162210504
19	CEBPB	chr3:162219248-162219620	IMR90	lung:	n/a	chr3:162219429-162219440
20	CEBPB	chr3:162209719-162210974	Hela-S3	cervix:	n/a	chr3:162210491-162210504
21	CEBPB	chr3:162209739-162210089	MCF-7	breast:	n/a	n/a
22	CEBPB	chr3:162210151-162210916	A549	lung:	n/a	chr3:162210491-162210504
23	CTCF	chr3:162235000-162235150	HCPEpiC	choroid plexus:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
24	CTCF	chr3:162118540-162118690	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:162136094-162136117	Fibrobl	skin:	n/a	n/a
26	CTCF	chr3:162235040-162235190	BE2_C	brain:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
27	CTCF	chr3:162207660-162207810	HFF	foreskin:	n/a	n/a
28	CTCF	chr3:162118644-162118821	GM12878	blood:	n/a	n/a
29	CTCF	chr3:162136120-162136270	HCT-116	colon:	n/a	n/a
30	CTCF	chr3:162235080-162235230	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr3:162207780-162207930	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr3:162136054-162136221	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:162207840-162207990	HFF	foreskin:	n/a	n/a
34	CTCF	chr3:162118580-162118730	HCT-116	colon:	n/a	n/a
35	CTCF	chr3:162207780-162207930	AG09319	gingival:	n/a	n/a
36	CTCF	chr3:162136040-162136190	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr3:162207700-162207850	AG09309	skin:	n/a	n/a
38	CTCF	chr3:162235000-162235150	AG04449	skin:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
39	CTCF	chr3:162207714-162207970	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr3:162235004-162235160	Medullo	brain:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
41	CTCF	chr3:162200147-162200218	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:162118580-162118730	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr3:162118596-162118772	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:162235000-162235150	HMF	breast:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
45	CTCF	chr3:162136160-162136310	RPTEC	kidney:	n/a	n/a
46	CTCF	chr3:162136104-162136166	Gliobla	brain:	n/a	n/a
47	CTCF	chr3:162118644-162118734	Gliobla	brain:	n/a	n/a
48	CTCF	chr3:162234940-162235090	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr3:162207742-162207875	Fibrobl	skin:	n/a	n/a
50	CTCF	chr3:162118540-162118690	AG04449	skin:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:162210236-162210286	A549	lung:	n/a
2	chr3:162210236-162210286	A549	lung:	n/a
3	chr3:162210236-162210286	Hepatocyte	liver:	n/a
4	chr3:162129530-162129580	MCF10A-Er-Src	breast:	n/a
5	chr3:162129530-162129580	HL-60	blood:	n/a
6	chr3:162129530-162129580	SK-N-SH_RA	brain:	n/a
7	chr3:162210236-162210286	AG09309	skin:	n/a
8	chr3:162129530-162129580	Hepatocyte	liver:	n/a
9	chr3:162210236-162210286	SAEC	small airway:	n/a
10	chr3:162129530-162129580	BJ	skin:	n/a
11	chr3:162129530-162129580	LNCaP	prostate:	n/a
12	chr3:162129530-162129580	Caco-2	colon:	n/a
13	chr3:162129530-162129580	RPTEC	kidney:	n/a
14	chr3:162129530-162129580	PANC-1	pancreas:	n/a
15	chr3:162129530-162129580	HMEC	breast:	n/a
16	chr3:162129530-162129580	GM12891	blood:	n/a
17	chr3:162129530-162129580	MCF-7	breast:	n/a
18	chr3:162210236-162210286	NB4	blood:	n/a
19	chr3:162210236-162210286	AG04450	lung:	fetal
20	chr3:162210236-162210286	HPAEpiC	pulmonary alveolar:	n/a
21	chr3:162210236-162210286	HRPEpiC	eye:	n/a
22	chr3:162210236-162210286	SK-N-SH_RA	brain:	n/a
23	chr3:162210236-162210286	HCPEpiC	choroid plexus:	n/a
24	chr3:162210236-162210286	NHDF-neo	bronchial:	n/a
25	chr3:162129530-162129580	SKMC	muscle:	n/a
26	chr3:162129530-162129580	NH-A	brain:	n/a
27	chr3:162129530-162129580	HAEpiC	amniotic membrane:	n/a
28	chr3:162129530-162129580	HIPEpiC	eye:	n/a
29	chr3:162129530-162129580	T-47D	breast:	n/a
30	chr3:162210236-162210286	AG10803	skin:	n/a
31	chr3:162129530-162129580	HNPCEpiC	eye:	n/a
32	chr3:162129530-162129580	GM06990	blood:	n/a
33	chr3:162210236-162210286	K562	blood:	n/a
34	chr3:162129530-162129580	HUVEC	blood vessel:	n/a
35	chr3:162129530-162129580	H1-hESC	embryonic stem cell:	embryo
36	chr3:162210236-162210286	HEEpiC	esophagus:	n/a
37	chr3:162129530-162129580	AoSMC	blood vessel:	n/a
38	chr3:162210236-162210286	T-47D	breast:	n/a
39	chr3:162210236-162210286	Jurkat	blood:	n/a
40	chr3:162129530-162129580	SK-N-MC	brain:	n/a
41	chr3:162210236-162210286	NHBE	bronchial:	n/a
42	chr3:162210236-162210286	GM06990	blood:	n/a
43	chr3:162129530-162129580	HRCEpiC	kidney:	n/a
44	chr3:162129530-162129580	GM12892	blood:	n/a
45	chr3:162129530-162129580	ovcar-3	ovarian:	n/a
46	chr3:162129530-162129580	BE2_C	brain:	n/a
47	chr3:162129530-162129580	HEEpiC	esophagus:	n/a
48	chr3:162129530-162129580	PrEC	prostate:	n/a
49	chr3:162129530-162129580	HepG2	liver:	n/a
50	chr3:162129530-162129580	K562	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:
2	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:
3	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:
4	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:
5	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
6	chr3:162236582..162237488-chr4:38505086..38506008,2	MCF-7	breast:
7	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
8	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:

(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: 1555 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1555 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115963866	chr3:162118429-162118430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6441452	chr3:162118430-162118431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552457363	chr3:162118434-162118435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559400804	chr3:162118468-162118469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528063466	chr3:162118469-162118470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568897535	chr3:162118476-162118477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200443193	chr3:162118497-162118498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs68090745	chr3:162118498-162118499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6441454	chr3:162118499-162118500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536742361	chr3:162118555-162118556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6775708	chr3:162118603-162118604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541565824	chr3:162118624-162118625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9874193	chr3:162118658-162118659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190279916	chr3:162118663-162118664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553596778	chr3:162118669-162118670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573436908	chr3:162118681-162118682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536179709	chr3:162118731-162118732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538752870	chr3:162118772-162118773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182458943	chr3:162118781-162118782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568797602	chr3:162118836-162118837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575754300	chr3:162118881-162118882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544669200	chr3:162118893-162118894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558290905	chr3:162118926-162118927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577075446	chr3:162118996-162118997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546040146	chr3:162118997-162118998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147675538	chr3:162119007-162119008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2405754	chr3:162119020-162119021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542149997	chr3:162119097-162119098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561525328	chr3:162119119-162119120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140972909	chr3:162119129-162119130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530429649	chr3:162119135-162119136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2405753	chr3:162119167-162119168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62292337	chr3:162119179-162119180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542623414	chr3:162119186-162119187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561003393	chr3:162119217-162119218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200589439	chr3:162119234-162119235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184296390	chr3:162119284-162119285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79280795	chr3:162119364-162119365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368634164	chr3:162119379-162119380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567092655	chr3:162119380-162119381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371928356	chr3:162119381-162119382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34353460	chr3:162119382-162119383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397700081	chr3:162119385-162119386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77016574	chr3:162119386-162119387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535769976	chr3:162119441-162119442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142432470	chr3:162119467-162119468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532410537	chr3:162119480-162119481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550569974	chr3:162119563-162119564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574991298	chr3:162129400-162129401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548756776	chr3:162129409-162129410	Active TSS	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162118400-162119600	Enhancers	Fetal Heart	heart
2	chr3:162129400-162129800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:162129400-162130000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:162129400-162130000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:162129600-162130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:162137000-162147000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:162155200-162157200	ZNF genes & repeats	Dnd41	blood
8	chr3:162155600-162156000	Enhancers	Osteobl	bone
9	chr3:162157200-162161200	Weak transcription	Dnd41	blood
10	chr3:162159400-162160200	Enhancers	Fetal Heart	heart
11	chr3:162161200-162161400	Enhancers	Dnd41	blood
12	chr3:162161400-162169600	Weak transcription	Dnd41	blood
13	chr3:162167000-162168600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:162176200-162176400	ZNF genes & repeats	Pancreas	Pancrea
15	chr3:162177400-162177800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:162177600-162178000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:162204000-162204800	Enhancers	Dnd41	blood
18	chr3:162204800-162213000	Weak transcription	Dnd41	blood
19	chr3:162205400-162206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:162205800-162206200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr3:162206200-162210000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:162208800-162209200	Enhancers	A549	lung
23	chr3:162209200-162209600	Weak transcription	A549	lung
24	chr3:162209600-162209800	Enhancers	Osteobl	bone
25	chr3:162209600-162210000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:162209600-162210200	Enhancers	A549	lung
27	chr3:162209600-162211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:162209800-162210000	Flanking Active TSS	Osteobl	bone
29	chr3:162209800-162210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:162209800-162211000	Enhancers	Hela-S3	cervix
31	chr3:162209800-162211200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:162209800-162211200	Enhancers	NH-A	brain
33	chr3:162209800-162211200	Enhancers	NHDF-Ad	bronchial
34	chr3:162210000-162210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:162210000-162210200	Enhancers	Osteobl	bone
36	chr3:162210000-162210400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:162210000-162210600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr3:162210000-162211600	Enhancers	HSMM	muscle
39	chr3:162210200-162210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:162210200-162210400	Flanking Active TSS	A549	lung
41	chr3:162210200-162210600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:162210200-162210600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:162210200-162210600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:162210200-162210600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:162210200-162210600	Flanking Active TSS	Osteobl	bone
46	chr3:162210200-162210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:162210200-162211200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:162210200-162211200	Enhancers	Fetal Heart	heart
49	chr3:162210200-162211200	Enhancers	HSMMtube	muscle
50	chr3:162210400-162210800	Active TSS	A549	lung

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