Variant report

Variant	nsv877737
Chromosome Location	chr3:162132155-162242541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:384)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

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	CEBPB	chr3:162209719-162210974	Hela-S3	cervix:	n/a	chr3:162210491-162210504
7	CEBPB	chr3:162210151-162210916	A549	lung:	n/a	chr3:162210491-162210504
8	CEBPB	chr3:162209674-162210107	A549	lung:	n/a	n/a
9	CEBPB	chr3:162205022-162205310	IMR90	lung:	n/a	n/a
10	CEBPB	chr3:162177204-162177284	H1-hESC	embryonic stem cell:	n/a	chr3:162177255-162177266
11	CEBPB	chr3:162151375-162151576	HepG2	liver:	n/a	chr3:162151476-162151487
12	CEBPB	chr3:162209604-162211122	A549	lung:	n/a	chr3:162210491-162210504
13	CEBPB	chr3:162209758-162210932	A549	lung:	n/a	chr3:162210491-162210504
14	CEBPB	chr3:162219267-162219549	K562	blood:	n/a	chr3:162219429-162219440
15	CEBPB	chr3:162209739-162210089	MCF-7	breast:	n/a	n/a
16	CEBPB	chr3:162177135-162177440	HepG2	liver:	n/a	chr3:162177255-162177266
17	CEBPB	chr3:162219243-162219812	A549	lung:	n/a	chr3:162219429-162219440
18	CEBPB	chr3:162209757-162210919	IMR90	lung:	n/a	chr3:162210491-162210504
19	CEBPB	chr3:162209752-162210155	MCF-7	breast:	n/a	n/a
20	CEBPB	chr3:162219248-162219620	IMR90	lung:	n/a	chr3:162219429-162219440
21	CEBPB	chr3:162219255-162219607	HepG2	liver:	n/a	chr3:162219429-162219440
22	CTCF	chr3:162136080-162136230	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:162179847-162179939	GM20000	blood:	n/a	n/a
24	CTCF	chr3:162207740-162207890	Caco-2	colon:	n/a	n/a
25	CTCF	chr3:162207705-162207892	T-47D	breast:	n/a	n/a
26	CTCF	chr3:162207806-162207883	Gliobla	brain:	n/a	n/a
27	CTCF	chr3:162136160-162136310	RPTEC	kidney:	n/a	n/a
28	CTCF	chr3:162215024-162215029	GM13976	blood:	n/a	n/a
29	CTCF	chr3:162207820-162207970	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr3:162235040-162235190	AG09319	gingival:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
31	CTCF	chr3:162136040-162136190	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr3:162207751-162207879	ProgFib	skin:	n/a	n/a
33	CTCF	chr3:162235004-162235160	Medullo	brain:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
34	CTCF	chr3:162207741-162207971	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr3:162207800-162207950	HVMF	connective:	n/a	n/a
36	CTCF	chr3:162136122-162136127	Fibrobl	skin:	n/a	n/a
37	CTCF	chr3:162214948-162215020	GM13976	blood:	n/a	n/a
38	CTCF	chr3:162136124-162136200	LNCaP	prostate:	n/a	n/a
39	CTCF	chr3:162207740-162207890	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr3:162200000-162200150	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:162207640-162207790	BE2_C	brain:	n/a	n/a
42	CTCF	chr3:162207760-162207910	AG10803	skin:	n/a	n/a
43	CTCF	chr3:162207720-162207870	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr3:162207740-162207890	HVMF	connective:	n/a	n/a
45	CTCF	chr3:162207696-162207969	HCT-116	colon:	n/a	n/a
46	CTCF	chr3:162212277-162212312	LNCaP	prostate:	n/a	n/a
47	CTCF	chr3:162235040-162235190	HCM	heart:	n/a	chr3:162235077-162235098 chr3:162235075-162235093
48	CTCF	chr3:162207860-162208010	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr3:162136056-162136213	MCF-7	breast:	n/a	n/a
50	CTCF	chr3:162200181-162200209	MCF-7	breast:	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	SK-N-SH	brain:	n/a
2	chr3:162210236-162210286	CMK	blood:	n/a
3	chr3:162210236-162210286	PFSK-1	brain:	n/a
4	chr3:162210236-162210286	HIPEpiC	eye:	n/a
5	chr3:162210236-162210286	H1-hESC	embryonic stem cell:	embryo
6	chr3:162210236-162210286	Hepatocyte	liver:	n/a
7	chr3:162210236-162210286	HEEpiC	esophagus:	n/a
8	chr3:162210236-162210286	HNPCEpiC	eye:	n/a
9	chr3:162210236-162210286	MCF10A-Er-Src	breast:	n/a
10	chr3:162210236-162210286	BE2_C	brain:	n/a
11	chr3:162210236-162210286	RPTEC	kidney:	n/a
12	chr3:162210236-162210286	HCPEpiC	choroid plexus:	n/a
13	chr3:162210236-162210286	GM12878	blood:	n/a
14	chr3:162210236-162210286	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:162210236-162210286	ovcar-3	ovarian:	n/a
16	chr3:162210236-162210286	AG10803	skin:	n/a
17	chr3:162210236-162210286	HepG2	liver:	n/a
18	chr3:162210236-162210286	GM06990	blood:	n/a
19	chr3:162210236-162210286	HMEC	breast:	n/a
20	chr3:162210236-162210286	Caco-2	colon:	n/a
21	chr3:162210236-162210286	PANC-1	pancreas:	n/a
22	chr3:162210236-162210286	Jurkat	blood:	n/a
23	chr3:162210236-162210286	AoSMC	blood vessel:	n/a
24	chr3:162210236-162210286	AG09309	skin:	n/a
25	chr3:162210236-162210286	ProgFib	skin:	n/a
26	chr3:162210236-162210286	IMR90	lung:	fetal
27	chr3:162210236-162210286	HRCEpiC	kidney:	n/a
28	chr3:162210236-162210286	BJ	skin:	n/a
29	chr3:162210236-162210286	A549	lung:	n/a
30	chr3:162210236-162210286	NHBE	bronchial:	n/a
31	chr3:162210236-162210286	NB4	blood:	n/a
32	chr3:162210236-162210286	SKMC	muscle:	n/a
33	chr3:162210236-162210286	K562	blood:	n/a
34	chr3:162210236-162210286	SK-N-SH_RA	brain:	n/a
35	chr3:162210236-162210286	GM12891	blood:	n/a
36	chr3:162210236-162210286	HAEpiC	amniotic membrane:	n/a
37	chr3:162210236-162210286	HEK293	kidney:	embryo
38	chr3:162210236-162210286	HRE	kidney:	n/a
39	chr3:162210236-162210286	AG04450	lung:	fetal
40	chr3:162210236-162210286	HCT-116	colon:	n/a
41	chr3:162210236-162210286	MCF-7	breast:	n/a
42	chr3:162210236-162210286	ECC-1	luminal epithelium:	n/a
43	chr3:162210236-162210286	U87	brain:	n/a
44	chr3:162210236-162210286	NT2-D1	testis:	n/a
45	chr3:162210236-162210286	NHDF-neo	bronchial:	n/a
46	chr3:162210236-162210286	GM12892	blood:	n/a
47	chr3:162210236-162210286	PrEC	prostate:	n/a
48	chr3:162210236-162210286	HRPEpiC	eye:	n/a
49	chr3:162210236-162210286	HCF	heart:	n/a
50	chr3:162210236-162210286	LNCaP	prostate:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:
2	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
3	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:
4	chr3:162236582..162237488-chr4:38505086..38506008,2	MCF-7	breast:
5	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:
6	chr3:162215860..162218810-chr3:162234701..162237384,2	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: 1701 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1701 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140716727	chr3:162137143-162137144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574257873	chr3:162137153-162137154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144555204	chr3:162137163-162137164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549858940	chr3:162137187-162137188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570119032	chr3:162137190-162137191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369787891	chr3:162137225-162137226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558758413	chr3:162137238-162137239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182796058	chr3:162137297-162137298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6789202	chr3:162137300-162137301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115244419	chr3:162137312-162137313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574784051	chr3:162137316-162137317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543517080	chr3:162137321-162137322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557450223	chr3:162137335-162137336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556968378	chr3:162137369-162137370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140714070	chr3:162137372-162137373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12639087	chr3:162137425-162137426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6764843	chr3:162137428-162137429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10936280	chr3:162137470-162137471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186006498	chr3:162137514-162137515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529710883	chr3:162137537-162137538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61422515	chr3:162137566-162137567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10936281	chr3:162137582-162137583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532113371	chr3:162137653-162137654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150107181	chr3:162137692-162137693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190821021	chr3:162137696-162137697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530953336	chr3:162137734-162137735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565934533	chr3:162137767-162137768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183328327	chr3:162137768-162137769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7648533	chr3:162137783-162137784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116499735	chr3:162137799-162137800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75715861	chr3:162137811-162137812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557112351	chr3:162137824-162137825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577407498	chr3:162137834-162137835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539987392	chr3:162137860-162137861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138477580	chr3:162137869-162137870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200100789	chr3:162137894-162137895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572280799	chr3:162137908-162137909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200151934	chr3:162137941-162137942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541299804	chr3:162138075-162138076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561260115	chr3:162138095-162138096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188884513	chr3:162138123-162138124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141264945	chr3:162138125-162138126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563182172	chr3:162138126-162138127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532030498	chr3:162138149-162138150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111886562	chr3:162138197-162138198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528312671	chr3:162138217-162138218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146978032	chr3:162138244-162138245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559484381	chr3:162138262-162138263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368198727	chr3:162138285-162138286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6441459	chr3:162138300-162138301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162137000-162147000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:162155200-162157200	ZNF genes & repeats	Dnd41	blood
3	chr3:162155600-162156000	Enhancers	Osteobl	bone
4	chr3:162157200-162161200	Weak transcription	Dnd41	blood
5	chr3:162159400-162160200	Enhancers	Fetal Heart	heart
6	chr3:162161200-162161400	Enhancers	Dnd41	blood
7	chr3:162161400-162169600	Weak transcription	Dnd41	blood
8	chr3:162167000-162168600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:162176200-162176400	ZNF genes & repeats	Pancreas	Pancrea
10	chr3:162177400-162177800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:162177600-162178000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:162204000-162204800	Enhancers	Dnd41	blood
13	chr3:162204800-162213000	Weak transcription	Dnd41	blood
14	chr3:162205400-162206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:162205800-162206200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:162206200-162210000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:162208800-162209200	Enhancers	A549	lung
18	chr3:162209200-162209600	Weak transcription	A549	lung
19	chr3:162209600-162209800	Enhancers	Osteobl	bone
20	chr3:162209600-162210000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:162209600-162210200	Enhancers	A549	lung
22	chr3:162209600-162211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:162209800-162210000	Flanking Active TSS	Osteobl	bone
24	chr3:162209800-162210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:162209800-162211000	Enhancers	Hela-S3	cervix
26	chr3:162209800-162211200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:162209800-162211200	Enhancers	NH-A	brain
28	chr3:162209800-162211200	Enhancers	NHDF-Ad	bronchial
29	chr3:162210000-162210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:162210000-162210200	Enhancers	Osteobl	bone
31	chr3:162210000-162210400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:162210000-162210600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr3:162210000-162211600	Enhancers	HSMM	muscle
34	chr3:162210200-162210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:162210200-162210400	Flanking Active TSS	A549	lung
36	chr3:162210200-162210600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:162210200-162210600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:162210200-162210600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:162210200-162210600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:162210200-162210600	Flanking Active TSS	Osteobl	bone
41	chr3:162210200-162210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:162210200-162211200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:162210200-162211200	Enhancers	Fetal Heart	heart
44	chr3:162210200-162211200	Enhancers	HSMMtube	muscle
45	chr3:162210400-162210800	Active TSS	A549	lung
46	chr3:162210600-162211000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:162210600-162211000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:162210600-162211200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:162210600-162211200	Enhancers	Osteobl	bone
50	chr3:162210600-162212000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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