Variant report

Variant	nsv602950
Chromosome Location	chr6:36704787-36708917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:36708418-36708433	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:36708380-36708460	K562	blood:	n/a	n/a
3	BHLHE40	chr6:36708312-36708547	GM12878	blood:	n/a	n/a
4	EBF1	chr6:36705332-36705532	GM12878	blood:	n/a	chr6:36705451-36705462
5	EBF1	chr6:36706752-36707015	GM12878	blood:	n/a	n/a
6	FOS	chr6:36707717-36708367	HUVEC	blood vessel:	n/a	chr6:36707899-36707910
7	FOS	chr6:36707882-36707945	MCF10A-Er-Src	breast:	n/a	chr6:36707899-36707910
8	FOS	chr6:36707839-36707974	MCF10A-Er-Src	breast:	n/a	chr6:36707899-36707910
9	GATA2	chr6:36707745-36708520	HUVEC	blood vessel:	n/a	n/a
10	HMGN3	chr6:36707088-36707189	K562	blood:	n/a	n/a
11	JUN	chr6:36707735-36708075	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr6:36707827-36708646	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr6:36708427-36708453	GM12878	blood:	n/a	n/a
14	MAX	chr6:36708288-36708604	K562	blood:	n/a	n/a
15	MAX	chr6:36705055-36705511	K562	blood:	n/a	n/a
16	MAX	chr6:36708311-36708473	NB4	blood:	n/a	n/a
17	MAX	chr6:36705372-36705470	NB4	blood:	n/a	n/a
18	MYC	chr6:36704945-36705117	MCF-7	breast:	n/a	n/a
19	MYC	chr6:36707587-36707865	HUVEC	blood vessel:	n/a	n/a
20	MYC	chr6:36708338-36708574	HUVEC	blood vessel:	n/a	n/a
21	MYC	chr6:36707882-36708090	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr6:36705533-36705554	NB4	blood:	n/a	n/a
23	MYC	chr6:36707530-36707578	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:36704976-36705158	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:36707969-36708088	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr6:36708360-36708714	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr6:36707578-36708188	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr6:36708827-36708846	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr6:36707812-36708242	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr6:36707578-36707641	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:36707275-36708743	GM12891	blood:	n/a	n/a
32	RCOR1	chr6:36705995-36706179	K562	blood:	n/a	n/a
33	USF2	chr6:36708326-36708504	GM12878	blood:	n/a	n/a
34	ZNF143	chr6:36706050-36706120	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36708140..36710606-chr6:36718569..36720077,2	MCF-7	breast:
2	chr6:36681851..36683948-chr6:36705203..36707828,2	K562	blood:
3	chr6:36706791..36710785-chr6:36712838..36716064,4	MCF-7	breast:
4	chr6:36708174..36711394-chr6:36720287..36721932,3	MCF-7	breast:
5	chr6:36706267..36708533-chr6:36712946..36714916,2	K562	blood:
6	chr6:36646178..36648267-chr6:36708912..36712169,4	MCF-7	breast:
7	chr6:36704975..36706910-chr6:36710272..36712382,2	MCF-7	breast:
8	chr6:36705103..36707775-chr6:36711430..36713266,2	MCF-7	breast:
9	chr6:36706145..36708888-chr6:36709331..36711123,2	MCF-7	breast:
10	chr6:36705988..36708979-chr6:36709402..36712073,2	K562	blood:
11	chr6:36588827..36591407-chr6:36708568..36710825,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220349	TF binding region
ENSG00000124762	chromatin interactions
ENSG00000263894	chromatin interactions
ENSG00000255587	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1894560	chr6:36704787-36704788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113226229	chr6:36704792-36704793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1864750	chr6:36704807-36704808	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551527307	chr6:36704808-36704809	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188053249	chr6:36704830-36704831	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573147177	chr6:36704831-36704832	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1864749	chr6:36704836-36704837	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561789234	chr6:36704839-36704840	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10807173	chr6:36704915-36704916	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553834832	chr6:36704916-36704917	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138813330	chr6:36704921-36704922	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533094185	chr6:36704934-36704935	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181299001	chr6:36704937-36704938	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149339032	chr6:36704938-36704939	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12662402	chr6:36704939-36704940	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12665281	chr6:36704940-36704941	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536471311	chr6:36704942-36704943	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373342194	chr6:36704943-36704944	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568382967	chr6:36704981-36704982	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185370317	chr6:36704992-36704993	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62406606	chr6:36705012-36705013	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs199510922	chr6:36705094-36705095	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs569096158	chr6:36705104-36705105	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs559437429	chr6:36705139-36705140	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs376766120	chr6:36705156-36705157	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs539962666	chr6:36705166-36705167	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs557968114	chr6:36705169-36705170	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs12194367	chr6:36705200-36705201	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373771016	chr6:36705208-36705209	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545879752	chr6:36705211-36705212	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533906313	chr6:36705299-36705300	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113031287	chr6:36705335-36705336	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574010593	chr6:36705384-36705385	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377551019	chr6:36705393-36705394	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371089271	chr6:36705400-36705401	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190676147	chr6:36705421-36705422	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375599217	chr6:36705429-36705430	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148579247	chr6:36705438-36705439	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181787804	chr6:36705450-36705451	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545088352	chr6:36705491-36705492	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186574374	chr6:36705494-36705495	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192301936	chr6:36705539-36705540	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548676382	chr6:36705584-36705585	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560527812	chr6:36705587-36705588	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529579653	chr6:36705590-36705591	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183733510	chr6:36705613-36705614	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569155436	chr6:36705638-36705639	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9380593	chr6:36705642-36705643	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs13216190	chr6:36705684-36705685	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566823066	chr6:36705705-36705706	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36702200-36704800	Enhancers	Lung	lung
2	chr6:36703400-36706800	Enhancers	Fetal Muscle Leg	muscle
3	chr6:36703400-36707000	Weak transcription	Gastric	stomach
4	chr6:36703400-36710200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:36703400-36718000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:36703600-36705000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:36703600-36709000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:36703800-36704800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:36703800-36704800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:36703800-36704800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:36703800-36705400	Weak transcription	Spleen	Spleen
12	chr6:36703800-36706800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:36703800-36711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:36703800-36712800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:36703800-36718000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:36704000-36705000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:36704000-36706800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:36704000-36707000	Weak transcription	Adipose Nuclei	Adipose
19	chr6:36704000-36707600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:36704000-36707600	Weak transcription	Osteobl	bone
21	chr6:36704000-36708000	Weak transcription	Colonic Mucosa	Colon
22	chr6:36704000-36708800	Weak transcription	Fetal Intestine Small	intestine
23	chr6:36704000-36709200	Weak transcription	Esophagus	oesophagus
24	chr6:36704000-36709400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:36704000-36709800	Weak transcription	Fetal Stomach	stomach
26	chr6:36704000-36711600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:36704000-36711800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:36704000-36712600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:36704000-36718000	Weak transcription	Right Atrium	heart
30	chr6:36704000-36720400	Weak transcription	Right Ventricle	heart
31	chr6:36704200-36706800	Weak transcription	HUVEC	blood vessel
32	chr6:36704200-36706800	Weak transcription	NHDF-Ad	bronchial
33	chr6:36704200-36707400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:36704200-36707600	Weak transcription	NHLF	lung
35	chr6:36704200-36709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:36704200-36709400	Weak transcription	Stomach Mucosa	stomach
37	chr6:36704200-36710200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:36704200-36711800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:36704400-36705200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:36704600-36705000	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:36704800-36705200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:36704800-36705600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:36704800-36707600	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:36705000-36705200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:36705000-36705600	Enhancers	Primary B cells from cord blood	blood
46	chr6:36705000-36705800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr6:36705200-36705400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:36705200-36707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:36705400-36705600	Enhancers	Spleen	Spleen
50	chr6:36705400-36706600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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