Variant report

Variant	nsv981556
Chromosome Location	chr7:99795259-99797176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:99794724-99795263	GM12878	blood:	n/a	n/a
2	CTCF	chr7:99796582-99796648	GM13976	blood:	n/a	n/a
3	HEY1	chr7:99796841-99797270	K562	blood:	n/a	n/a
4	HEY1	chr7:99794636-99795292	K562	blood:	n/a	n/a
5	POLR2A	chr7:99795964-99796512	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr7:99795318-99795611	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr7:99795998-99796148	A549	lung:	n/a	n/a
8	POLR2A	chr7:99796796-99796800	K562	blood:	n/a	n/a
9	POLR2A	chr7:99796941-99797299	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:99796689-99797445	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr7:99795597-99796004	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:99796474-99796540	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:99795680-99796004	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:99794271-99795350	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:99797052-99797248	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:99795629-99796469	K562	blood:	n/a	n/a
17	POLR2A	chr7:99796877-99797106	A549	lung:	n/a	n/a
18	POLR2A	chr7:99796911-99797012	A549	lung:	n/a	n/a
19	POLR2A	chr7:99795650-99795994	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:99796779-99797356	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:99796780-99797224	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:99795781..99801540-chr7:99806649..99812120,7	K562	blood:
2	chr7:99797078..99799692-chr7:99801985..99803908,2	MCF-7	breast:
3	chr7:99796687..99799289-chr7:100025322..100027560,2	K562	blood:
4	chr7:99744806..99747397-chr7:99797049..99799857,2	K562	blood:
5	chr7:99744806..99746598-chr7:99796497..99798549,2	K562	blood:
6	chr7:99794786..99797012-chr7:99801296..99803017,2	K562	blood:

No data

Variant related genes	Relation type
STAG3	TF binding region
ENSG00000188186	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000239521	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000066923	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376973168	chr7:99795288-99795289	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190922897	chr7:99795317-99795318	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571854402	chr7:99795347-99795348	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs202184509	chr7:99795389-99795390	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374389919	chr7:99795392-99795393	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530499520	chr7:99795423-99795424	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200704195	chr7:99795485-99795486	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62625012	chr7:99795491-99795492	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs13310508	chr7:99795519-99795520	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200640293	chr7:99795526-99795527	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs13310961	chr7:99795545-99795546	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13310513	chr7:99795546-99795547	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553342862	chr7:99795572-99795573	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs13310550	chr7:99795573-99795574	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574766247	chr7:99795615-99795616	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs180681003	chr7:99795625-99795626	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557015859	chr7:99795634-99795635	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs13311028	chr7:99795637-99795638	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139707192	chr7:99795672-99795673	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545589922	chr7:99795691-99795692	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201341534	chr7:99795706-99795707	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371785356	chr7:99795714-99795715	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs199706651	chr7:99795715-99795716	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201648813	chr7:99795728-99795729	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201353654	chr7:99795729-99795730	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200807873	chr7:99795737-99795738	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs199906943	chr7:99795738-99795739	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528725120	chr7:99795745-99795746	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146959237	chr7:99795754-99795755	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540413137	chr7:99795777-99795778	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs367753133	chr7:99795826-99795827	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs562073819	chr7:99795848-99795849	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs549094703	chr7:99795867-99795868	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs72388043	chr7:99795922-99795923	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs55702733	chr7:99795923-99795924	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528268006	chr7:99795955-99795956	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs550828764	chr7:99795966-99795967	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs372107241	chr7:99796049-99796050	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs111629818	chr7:99796057-99796058	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs3823642	chr7:99796072-99796073	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs372418212	chr7:99796119-99796120	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs3735241	chr7:99796146-99796147	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs149765159	chr7:99796183-99796184	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs186039173	chr7:99796241-99796242	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs375658212	chr7:99796247-99796248	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201879680	chr7:99796249-99796250	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs546792999	chr7:99796338-99796339	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs568230768	chr7:99796363-99796364	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs191290335	chr7:99796387-99796388	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs557251223	chr7:99796388-99796389	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99775800-99798000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:99778600-99797800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:99788800-99795400	Weak transcription	K562	blood
4	chr7:99790000-99808800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:99790000-99817000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:99791400-99806800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:99793200-99796800	Weak transcription	Spleen	Spleen
8	chr7:99793200-99797800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:99793400-99795400	Weak transcription	Thymus	Thymus
10	chr7:99793400-99798000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:99793400-99806000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:99793600-99805800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:99794000-99798200	Weak transcription	Fetal Brain Female	brain
14	chr7:99794200-99795400	Weak transcription	Primary B cells from cord blood	blood
15	chr7:99794600-99797800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:99795000-99795600	Enhancers	Fetal Thymus	thymus
17	chr7:99795000-99795800	Enhancers	Brain Angular Gyrus	brain
18	chr7:99795000-99798800	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:99795200-99795400	Enhancers	GM12878-XiMat	blood
20	chr7:99795200-99796800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:99795200-99797200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:99795400-99795600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:99795400-99795800	Enhancers	Thymus	Thymus
24	chr7:99795400-99795800	Weak transcription	GM12878-XiMat	blood
25	chr7:99795400-99796000	Enhancers	Brain Anterior Caudate	brain
26	chr7:99795400-99796400	Enhancers	Brain Hippocampus Middle	brain
27	chr7:99795400-99796400	Enhancers	Brain Substantia Nigra	brain
28	chr7:99795400-99797600	Enhancers	K562	blood
29	chr7:99795400-99798800	Enhancers	Primary B cells from cord blood	blood
30	chr7:99795600-99796200	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:99795600-99796400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:99795600-99797000	Weak transcription	Fetal Thymus	thymus
33	chr7:99795600-99812200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:99795800-99798600	Enhancers	GM12878-XiMat	blood
35	chr7:99795800-99802400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:99795800-99807000	Weak transcription	Thymus	Thymus
37	chr7:99796000-99808400	Weak transcription	Brain Anterior Caudate	brain
38	chr7:99796200-99802200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:99796400-99798800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:99796400-99808800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:99796400-99813000	Weak transcription	Brain Substantia Nigra	brain
42	chr7:99796800-99798600	Enhancers	Spleen	Spleen
43	chr7:99796800-99816800	Weak transcription	Brain Germinal Matrix	brain
44	chr7:99796800-99817000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:99797000-99798200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:99797000-99798800	Genic enhancers	Fetal Thymus	thymus

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