Variant report

Variant	nsv602947
Chromosome Location	chr6:36637597-36641157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:36639523-36639640	HepG2	liver:	n/a	n/a
2	FOXA2	chr6:36639477-36639908	HepG2	liver:	n/a	n/a
3	HDAC2	chr6:36639414-36639833	HepG2	liver:	n/a	n/a
4	HNF4A	chr6:36639376-36639729	HepG2	liver:	n/a	chr6:36639567-36639579 chr6:36639565-36639580 chr6:36639566-36639579 chr6:36639566-36639581 chr6:36639567-36639579 chr6:36639566-36639581 chr6:36639566-36639581 chr6:36639564-36639582 chr6:36639567-36639580 chr6:36639566-36639581 chr6:36639567-36639579 chr6:36639566-36639580 chr6:36639567-36639579
5	HNF4A	chr6:36639320-36639758	HepG2	liver:	n/a	chr6:36639567-36639579 chr6:36639565-36639580 chr6:36639566-36639579 chr6:36639566-36639581 chr6:36639567-36639579 chr6:36639566-36639581 chr6:36639566-36639581 chr6:36639564-36639582 chr6:36639567-36639580 chr6:36639566-36639581 chr6:36639567-36639579 chr6:36639566-36639580 chr6:36639567-36639579
6	HNF4G	chr6:36639335-36639836	HepG2	liver:	n/a	chr6:36639567-36639579 chr6:36639566-36639579 chr6:36639566-36639581 chr6:36639567-36639579 chr6:36639566-36639581 chr6:36639566-36639581 chr6:36639564-36639582 chr6:36639567-36639580 chr6:36639566-36639581 chr6:36639564-36639579 chr6:36639567-36639579 chr6:36639566-36639580 chr6:36639567-36639579
7	MXI1	chr6:36639538-36639628	HepG2	liver:	n/a	n/a
8	USF1	chr6:36639517-36639738	HepG2	liver:	n/a	chr6:36639642-36639653
9	YY1	chr6:36639811-36639957	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36640651..36642338-chr6:36646391..36648359,2	K562	blood:
2	chr6:36633841..36635669-chr6:36637312..36639563,2	K562	blood:
3	chr6:36524196..36527132-chr6:36635202..36638000,2	MCF-7	breast:
4	chr6:36600535..36602963-chr6:36638081..36640016,2	MCF-7	breast:
5	chr6:36637280..36638995-chr6:36645495..36647593,2	K562	blood:

Variant related genes	Relation type
LAP3P2	TF binding region
CDKN1A	TF binding region
ENSG00000251864	TF binding region
ENSG00000124762	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4714000	chr6:36637597-36637598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs58470960	chr6:36637632-36637633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572077066	chr6:36637665-36637666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60078101	chr6:36637676-36637677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547194605	chr6:36637728-36637729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs61224207	chr6:36637745-36637746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376790714	chr6:36637754-36637755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554047016	chr6:36637775-36637776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548234165	chr6:36637779-36637780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188651351	chr6:36637804-36637805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544227713	chr6:36637805-36637806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149068083	chr6:36637851-36637852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145870138	chr6:36637873-36637874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs578126580	chr6:36637875-36637876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs578097043	chr6:36637884-36637885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192314673	chr6:36637885-36637886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540651375	chr6:36637978-36637979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147785680	chr6:36638015-36638016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111855736	chr6:36638026-36638027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61555611	chr6:36638067-36638068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141136024	chr6:36638084-36638085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376186976	chr6:36638118-36638119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368108974	chr6:36638123-36638124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560990846	chr6:36638125-36638126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112998056	chr6:36638127-36638128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371559244	chr6:36638136-36638137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199929345	chr6:36638137-36638138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543351956	chr6:36638164-36638165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4714001	chr6:36638175-36638176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs532220358	chr6:36638243-36638244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547603346	chr6:36638281-36638282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549449524	chr6:36638321-36638322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529861578	chr6:36638322-36638323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148066829	chr6:36638385-36638386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141776963	chr6:36638397-36638398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537016733	chr6:36638400-36638401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550224632	chr6:36638404-36638405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571944058	chr6:36638436-36638437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562984875	chr6:36638441-36638442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1321309	chr6:36638636-36638637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs184566098	chr6:36638638-36638639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572298564	chr6:36638655-36638656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1321308	chr6:36638691-36638692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs79086857	chr6:36638705-36638706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576048656	chr6:36638707-36638708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543762457	chr6:36638747-36638748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202085894	chr6:36638758-36638759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112310100	chr6:36638769-36638770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571888870	chr6:36638771-36638772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150150145	chr6:36638793-36638794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36631000-36644000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:36632000-36638800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:36633200-36640200	Enhancers	HepG2	liver
4	chr6:36633600-36637800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:36633800-36637800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:36634200-36637800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:36634600-36638000	Enhancers	Fetal Muscle Leg	muscle
8	chr6:36634800-36638200	Enhancers	Fetal Muscle Trunk	muscle
9	chr6:36635000-36637800	Enhancers	HSMMtube	muscle
10	chr6:36635200-36643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:36635400-36639600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:36635400-36644000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:36635400-36645600	Weak transcription	Small Intestine	intestine
14	chr6:36635600-36644000	Weak transcription	Hela-S3	cervix
15	chr6:36635800-36637600	Weak transcription	Fetal Kidney	kidney
16	chr6:36635800-36639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:36636000-36640800	Enhancers	Fetal Intestine Small	intestine
18	chr6:36636200-36637600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:36636400-36643800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:36636400-36643800	Weak transcription	NH-A	brain
21	chr6:36636800-36641000	Enhancers	Fetal Intestine Large	intestine
22	chr6:36637000-36637800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:36637000-36638000	Weak transcription	Ovary	ovary
24	chr6:36637000-36638600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:36637000-36643800	Weak transcription	Osteobl	bone
26	chr6:36637200-36637600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:36637200-36638200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:36637200-36638400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:36637200-36641600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:36637200-36641600	Weak transcription	GM12878-XiMat	blood
31	chr6:36637200-36643600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:36637200-36643800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:36637200-36643800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:36637200-36643800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:36637200-36643800	Weak transcription	HSMM	muscle
36	chr6:36637400-36637800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:36637400-36639800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:36637400-36642600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:36637600-36637800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:36637600-36637800	Enhancers	Fetal Kidney	kidney
41	chr6:36637800-36639200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:36637800-36642600	Weak transcription	HSMMtube	muscle
43	chr6:36637800-36643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:36637800-36643400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:36637800-36643800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:36637800-36643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:36638000-36638800	Enhancers	Ovary	ovary
48	chr6:36638800-36640000	Enhancers	Duodenum Mucosa	Duodenum
49	chr6:36638800-36644200	Weak transcription	Ovary	ovary
50	chr6:36639200-36639600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links