Variant report

Variant	nsv967272
Chromosome Location	chr3:150340723-150348299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:150346002-150346039	Kidney_OC	kidney:	n/a	n/a
2	GATA3	chr3:150342865-150343296	MCF-7	breast:	n/a	n/a
3	IRF1	chr3:150342393-150342516	K562	blood:	n/a	n/a
4	MAFF	chr3:150344938-150345039	HepG2	liver:	n/a	chr3:150344996-150345014
5	MAFK	chr3:150344851-150345062	HepG2	liver:	n/a	chr3:150344999-150345008 chr3:150344998-150345008
6	MAFK	chr3:150344963-150345109	IMR90	lung:	n/a	chr3:150344999-150345008 chr3:150344998-150345008
7	NFIC	chr3:150340621-150341181	SK-N-SH	brain:	n/a	n/a
8	NFYA	chr3:150341869-150342063	K562	blood:	n/a	n/a
9	POLR2A	chr3:150348260-150348597	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:150348217-150348615	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:150345594-150345616	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:150348282-150348612	GM12892	blood:	n/a	n/a
13	POLR2A	chr3:150344608-150345000	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:150346754-150347435	GM12878	blood:	n/a	n/a
15	SMC3	chr3:150344488-150344630	GM12878	blood:	n/a	n/a
16	STAT3	chr3:150344212-150344544	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150345472-150345522	MCF10A-Er-Src	breast:	n/a
2	chr3:150345472-150345522	Hela-S3	cervix:	n/a
3	chr3:150345472-150345522	A549	lung:	n/a
4	chr3:150345472-150345522	HCF	heart:	n/a
5	chr3:150345472-150345522	NB4	blood:	n/a
6	chr3:150345472-150345522	NHDF-neo	bronchial:	n/a
7	chr3:150345472-150345522	CMK	blood:	n/a
8	chr3:150345472-150345522	MCF-7	breast:	n/a
9	chr3:150345472-150345522	U87	brain:	n/a
10	chr3:150345472-150345522	AG09309	skin:	n/a
11	chr3:150345472-150345522	ECC-1	luminal epithelium:	n/a
12	chr3:150345472-150345522	Caco-2	colon:	n/a
13	chr3:150345472-150345522	PANC-1	pancreas:	n/a
14	chr3:150345472-150345522	HCT-116	colon:	n/a
15	chr3:150345472-150345522	AoSMC	blood vessel:	n/a
16	chr3:150345472-150345522	AG10803	skin:	n/a
17	chr3:150345472-150345522	LNCaP	prostate:	n/a
18	chr3:150345472-150345522	GM12891	blood:	n/a
19	chr3:150345472-150345522	HPAEpiC	pulmonary alveolar:	n/a
20	chr3:150345472-150345522	T-47D	breast:	n/a
21	chr3:150345472-150345522	HRE	kidney:	n/a
22	chr3:150345472-150345522	HRCEpiC	kidney:	n/a
23	chr3:150345472-150345522	HUVEC	blood vessel:	n/a
24	chr3:150345472-150345522	PFSK-1	brain:	n/a
25	chr3:150345472-150345522	PrEC	prostate:	n/a
26	chr3:150345472-150345522	AG04450	lung:	fetal
27	chr3:150345472-150345522	HEK293	kidney:	embryo
28	chr3:150345472-150345522	HRPEpiC	eye:	n/a
29	chr3:150345472-150345522	BJ	skin:	n/a
30	chr3:150345472-150345522	HMEC	breast:	n/a
31	chr3:150345472-150345522	SK-N-SH_RA	brain:	n/a
32	chr3:150345472-150345522	H1-hESC	embryonic stem cell:	embryo
33	chr3:150345472-150345522	GM19239	blood:	n/a
34	chr3:150345472-150345522	ovcar-3	ovarian:	n/a
35	chr3:150345472-150345522	HCPEpiC	choroid plexus:	n/a
36	chr3:150345472-150345522	GM06990	blood:	n/a
37	chr3:150345472-150345522	Jurkat	blood:	n/a
38	chr3:150345472-150345522	HL-60	blood:	n/a
39	chr3:150345472-150345522	HEEpiC	esophagus:	n/a
40	chr3:150345472-150345522	Hepatocyte	liver:	n/a
41	chr3:150345472-150345522	IMR90	lung:	fetal
42	chr3:150345472-150345522	ProgFib	skin:	n/a
43	chr3:150345472-150345522	HNPCEpiC	eye:	n/a
44	chr3:150345472-150345522	RPTEC	kidney:	n/a
45	chr3:150345472-150345522	HIPEpiC	eye:	n/a
46	chr3:150345472-150345522	GM12892	blood:	n/a
47	chr3:150345472-150345522	BE2_C	brain:	n/a
48	chr3:150345472-150345522	SK-N-MC	brain:	n/a
49	chr3:150345472-150345522	NT2-D1	testis:	n/a
50	chr3:150345472-150345522	K562	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:14217278..14219587-chr3:150343063..150344581,2	MCF-7	breast:
2	chr3:150320191..150322679-chr3:150341906..150344166,3	MCF-7	breast:
3	chr3:150340005..150343317-chr3:150348325..150351775,4	K562	blood:
4	chr3:150348263..150349898-chr3:150352645..150354743,2	MCF-7	breast:
5	chr3:150341447..150343968-chr3:150345071..150346615,2	K562	blood:
6	chr3:150320987..150322498-chr3:150342766..150344939,2	K562	blood:
7	chr3:150333970..150337663-chr3:150340631..150342414,3	K562	blood:
8	chr3:150341447..150343968-chr3:150345071..150346615,2	K562	blood:
9	chr3:150334750..150337026-chr3:150339148..150342071,3	MCF-7	breast:
10	chr3:150258291..150260561-chr3:150340195..150342969,2	K562	blood:
11	chr3:150320799..150322528-chr3:150340513..150342044,2	MCF-7	breast:
12	chr3:150341329..150343793-chr3:150348325..150350105,2	K562	blood:
13	chr3:150333970..150336900-chr3:150340631..150342625,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198843	TF binding region
ENSG00000198843	CpG island
ENSG00000198843	chromatin interactions
ENSG00000120742	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576114843	chr3:150340805-150340806	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111972227	chr3:150340859-150340860	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375506685	chr3:150340887-150340888	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369769408	chr3:150340918-150340919	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373266667	chr3:150340959-150340960	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377115129	chr3:150340984-150340985	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183460602	chr3:150341069-150341070	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376668151	chr3:150341081-150341082	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538706805	chr3:150341137-150341138	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552243284	chr3:150341158-150341159	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs13097283	chr3:150341164-150341165	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116385248	chr3:150341224-150341225	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553781630	chr3:150341226-150341227	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535593371	chr3:150341267-150341268	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533556992	chr3:150341279-150341280	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553762491	chr3:150341323-150341324	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10663245	chr3:150341379-150341380	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369165057	chr3:150341380-150341381	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs72586344	chr3:150341386-150341387	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs397784360	chr3:150341387-150341388	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576901441	chr3:150341472-150341473	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567211074	chr3:150341483-150341484	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373947395	chr3:150341589-150341590	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375810027	chr3:150341609-150341610	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142763496	chr3:150341625-150341626	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541972107	chr3:150341675-150341676	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144471396	chr3:150341774-150341775	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs148405608	chr3:150341775-150341776	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188336550	chr3:150341780-150341781	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535883390	chr3:150341825-150341826	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs3836401	chr3:150341842-150341843	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs397789606	chr3:150341843-150341844	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs3773610	chr3:150341880-150341881	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532367026	chr3:150341890-150341891	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181162952	chr3:150341896-150341897	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552280118	chr3:150341916-150341917	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555813736	chr3:150341930-150341931	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531833921	chr3:150341934-150341935	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559913207	chr3:150341963-150341964	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568668604	chr3:150342054-150342055	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534553807	chr3:150342100-150342101	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369477560	chr3:150342129-150342130	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs527245003	chr3:150342155-150342156	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373560271	chr3:150342320-150342321	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150601656	chr3:150342331-150342332	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185596558	chr3:150342382-150342383	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs17440940	chr3:150342397-150342398	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189892519	chr3:150342421-150342422	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs139961561	chr3:150342434-150342435	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541659670	chr3:150342447-150342448	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Bipolar disorder	18458673	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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150322200-150347000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:150322400-150344000	Weak transcription	HSMMtube	muscle
3	chr3:150322400-150350800	Weak transcription	Colonic Mucosa	Colon
4	chr3:150322400-150353000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:150322800-150341200	Weak transcription	HSMM	muscle
6	chr3:150323000-150341200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:150323000-150343800	Weak transcription	HMEC	breast
8	chr3:150323000-150348200	Weak transcription	Fetal Brain Male	brain
9	chr3:150323000-150348200	Weak transcription	Fetal Lung	lung
10	chr3:150323800-150341000	Weak transcription	A549	lung
11	chr3:150324000-150341600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:150324200-150342400	Weak transcription	NHDF-Ad	bronchial
13	chr3:150325600-150342400	Weak transcription	NHLF	lung
14	chr3:150325600-150342600	Weak transcription	Brain Substantia Nigra	brain
15	chr3:150325600-150348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:150325800-150342400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:150325800-150344200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:150326000-150343800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:150326000-150348400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:150326000-150352800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:150326600-150343800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:150326800-150343000	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:150326800-150344200	Weak transcription	Fetal Brain Female	brain
24	chr3:150327400-150343200	Weak transcription	Left Ventricle	heart
25	chr3:150327600-150343800	Weak transcription	Small Intestine	intestine
26	chr3:150328200-150343800	Weak transcription	Aorta	Aorta
27	chr3:150328600-150344200	Weak transcription	Fetal Heart	heart
28	chr3:150328800-150340800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:150328800-150342600	Weak transcription	Liver	Liver
30	chr3:150328800-150343000	Weak transcription	Brain Anterior Caudate	brain
31	chr3:150328800-150343600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:150328800-150343800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:150329200-150341600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:150329800-150343600	Weak transcription	Pancreas	Pancrea
35	chr3:150329800-150344200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:150330000-150342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:150330000-150343000	Weak transcription	Thymus	Thymus
38	chr3:150330000-150343200	Weak transcription	Spleen	Spleen
39	chr3:150330000-150343800	Weak transcription	Lung	lung
40	chr3:150330000-150348800	Weak transcription	Right Ventricle	heart
41	chr3:150330000-150356600	Weak transcription	Gastric	stomach
42	chr3:150330200-150343000	Weak transcription	Fetal Intestine Large	intestine
43	chr3:150330200-150343800	Weak transcription	Esophagus	oesophagus
44	chr3:150330200-150343800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:150330200-150348800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:150330200-150353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:150330400-150348400	Weak transcription	Fetal Stomach	stomach
48	chr3:150330600-150341800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:150331200-150341800	Weak transcription	Placenta	Placenta
50	chr3:150331200-150341800	Weak transcription	Rectal Mucosa Donor 29	rectum

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