Variant report

Variant	nsv819788
Chromosome Location	chr3:156869993-156871291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr3:156868741-156879284	IMR90	lung:	n/a	n/a
2	EP300	chr3:156871289-156871313	K562	blood:	n/a	n/a
3	MXI1	chr3:156871006-156871066	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:156869894-156870070	K562	blood:	n/a	n/a
5	POLR2A	chr3:156870003-156870194	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr3:156869016-156870096	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:156870698-156871293	GM12892	blood:	n/a	n/a
8	POLR2A	chr3:156869841-156870544	K562	blood:	n/a	n/a
9	POLR2A	chr3:156868856-156872754	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:156870222-156870591	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:156870413-156870525	K562	blood:	n/a	n/a
12	POLR2A	chr3:156871155-156871499	GM12891	blood:	n/a	n/a
13	POLR2A	chr3:156870038-156870157	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:156871039-156871805	MCF-7	breast:	n/a	n/a
15	POLR2A	chr3:156870220-156870697	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:156870686-156871050	U87	brain:	n/a	n/a
17	POLR2A	chr3:156870118-156870135	K562	blood:	n/a	n/a
18	POLR2A	chr3:156870164-156870542	GM12892	blood:	n/a	n/a
19	POLR2A	chr3:156870763-156870923	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr3:156861007-156879269	K562	blood:	n/a	n/a
21	POLR2A	chr3:156870653-156871560	K562	blood:	n/a	n/a
22	POLR2A	chr3:156863168-156879174	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr3:156870424-156870585	GM12891	blood:	n/a	n/a
24	POLR2A	chr3:156869891-156870015	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr3:156870745-156870959	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:156870713-156871156	HepG2	liver:	n/a	n/a
27	POLR2A	chr3:156871249-156871401	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr3:156870735-156871214	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr3:156869356-156870015	GM12892	blood:	n/a	n/a
30	POLR2A	chr3:156867869-156872315	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr3:156868728-156873222	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:156870223-156870592	GM12891	blood:	n/a	n/a
33	POLR2A	chr3:156868946-156871954	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:156868845-156870232	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr3:156868865-156871888	K562	blood:	n/a	n/a
36	POLR2A	chr3:156868403-156871934	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr3:156868497-156871316	K562	blood:	n/a	n/a
38	POLR2A	chr3:156870309-156870602	GM12891	blood:	n/a	n/a
39	POLR2A	chr3:156870316-156870532	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr3:156870885-156871305	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr3:156870279-156871950	HepG2	liver:	n/a	n/a
42	POLR2A	chr3:156868964-156871028	IMR90	lung:	n/a	n/a
43	POLR2A	chr3:156870084-156870098	K562	blood:	n/a	n/a
44	POLR2A	chr3:156870166-156870588	GM12892	blood:	n/a	n/a
45	POLR2A	chr3:156871150-156871548	GM12892	blood:	n/a	n/a
46	POLR2A	chr3:156869020-156870011	HepG2	liver:	n/a	n/a
47	POLR2A	chr3:156868831-156872105	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr3:156870842-156870864	K562	blood:	n/a	n/a
49	POLR2A	chr3:156869850-156870141	GM12891	blood:	n/a	n/a
50	POLR2A	chr3:156871196-156871531	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156267109..156271448-chr3:156870440..156873447,4	K562	blood:
2	chr1:21113620..21114457-chr3:156870821..156871744,2	Hela-S3	cervix:
3	chr3:156543622..156545874-chr3:156870977..156873628,2	MCF-7	breast:
4	chr1:23885182..23885919-chr3:156870766..156871477,2	Hela-S3	cervix:
5	chr3:156267016..156271448-chr3:156870182..156873447,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VEPH1-2	chr3:156870831-156870945	NONHSAT092900

No data

Variant related genes	Relation type
CCNL1	TF binding region
ENSG00000201778	TF binding region
ENSG00000114850	chromatin interactions
ENSG00000127483	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000197980	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187604117	chr3:156870045-156870046	Strong transcription Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs149273732	chr3:156870051-156870052	Strong transcription Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs73154633	chr3:156870059-156870060	Strong transcription Weak transcription Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112637961	chr3:156870079-156870080	Strong transcription Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs537710587	chr3:156870119-156870120	Strong transcription Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs147980308	chr3:156870228-156870229	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577565101	chr3:156870242-156870243	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs563938216	chr3:156870244-156870245	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs111392421	chr3:156870341-156870342	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs539425996	chr3:156870346-156870347	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs143454763	chr3:156870362-156870363	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs34605603	chr3:156870429-156870430	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs116090531	chr3:156870457-156870458	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540745098	chr3:156870491-156870492	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs147317073	chr3:156870516-156870517	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531179729	chr3:156870539-156870540	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs574186000	chr3:156870541-156870542	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs549547471	chr3:156870542-156870543	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs544519008	chr3:156870544-156870545	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs117807271	chr3:156870565-156870566	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs141044727	chr3:156870574-156870575	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551377721	chr3:156870688-156870689	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572155093	chr3:156870760-156870761	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs193212924	chr3:156870765-156870766	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs371400472	chr3:156870775-156870776	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs41272613	chr3:156870816-156870817	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369692374	chr3:156870861-156870862	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs373791277	chr3:156870943-156870944	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
29	rs144776694	chr3:156870948-156870949	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs369157882	chr3:156870949-156870950	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs372381538	chr3:156870959-156870960	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs373449949	chr3:156870981-156870982	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs567291455	chr3:156870994-156870995	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs538044121	chr3:156871000-156871001	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs549595856	chr3:156871048-156871049	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs547278414	chr3:156871127-156871128	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs538561926	chr3:156871163-156871164	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs150881152	chr3:156871164-156871165	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs139381326	chr3:156871168-156871169	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs184970832	chr3:156871190-156871191	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs555820760	chr3:156871253-156871254	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs574096860	chr3:156871265-156871266	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs150009268	chr3:156871281-156871282	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156848600-156876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:156852600-156873400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr3:156853400-156872000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:156855000-156872000	Weak transcription	Right Atrium	heart
5	chr3:156855400-156877000	Weak transcription	Gastric	stomach
6	chr3:156856000-156870800	Strong transcription	Primary T cells from cord blood	blood
7	chr3:156856000-156874600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:156858000-156871200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr3:156858000-156872000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr3:156858200-156870400	Strong transcription	Liver	Liver
11	chr3:156858200-156871200	Strong transcription	Adipose Nuclei	Adipose
12	chr3:156858400-156876400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr3:156858600-156871200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr3:156858600-156871200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr3:156858600-156872200	Strong transcription	Primary B cells from cord blood	blood
16	chr3:156858600-156872400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:156859000-156871800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:156859200-156870800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:156859400-156872200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:156859400-156872400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:156859400-156876200	Strong transcription	Placenta	Placenta
22	chr3:156859800-156871600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:156859800-156871800	Strong transcription	Fetal Muscle Leg	muscle
24	chr3:156860000-156871000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:156860000-156871000	Strong transcription	Brain Substantia Nigra	brain
26	chr3:156860000-156871200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:156860000-156872000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:156860000-156872200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:156860000-156872200	Strong transcription	A549	lung
30	chr3:156860000-156872400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:156860000-156872400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr3:156860000-156872800	Strong transcription	HSMM	muscle
33	chr3:156860000-156874000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:156860200-156871200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:156860200-156871400	Strong transcription	Colon Smooth Muscle	Colon
36	chr3:156860200-156872400	Strong transcription	Fetal Brain Female	brain
37	chr3:156860800-156870000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:156860800-156871800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:156860800-156872200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:156860800-156872400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:156860800-156872400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:156860800-156872600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:156861000-156870800	Strong transcription	Dnd41	blood
44	chr3:156861000-156871200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:156861000-156871200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr3:156861000-156871400	Strong transcription	Fetal Lung	lung
47	chr3:156861000-156871600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:156861000-156872000	Strong transcription	HUVEC	blood vessel
49	chr3:156861200-156871600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr3:156861200-156871600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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