Variant report

Variant	esv3413317
Chromosome Location	chr6:37456674-37460972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37458120..37463201-chr6:37463391..37469475,12	K562	blood:
2	chr6:37440015..37443370-chr6:37454781..37457774,3	K562	blood:
3	chr6:37454869..37462977-chr6:37463391..37469245,23	K562	blood:
4	chr6:37348994..37349906-chr6:37457240..37457994,2	K562	blood:
5	chr6:37430006..37431711-chr6:37457108..37458826,2	K562	blood:
6	chr6:37460921..37462916-chr6:37482767..37484311,2	MCF-7	breast:
7	chr6:37448409..37450836-chr6:37456466..37458234,2	MCF-7	breast:
8	chr6:37458847..37461415-chr6:37462946..37464920,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198937	chromatin interactions
ENSG00000137200	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs537933517	chr6:37456681-37456682	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557698543	chr6:37456739-37456740	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571417213	chr6:37456740-37456741	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147891881	chr6:37456751-37456752	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553609800	chr6:37456777-37456778	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377172357	chr6:37456782-37456783	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573700892	chr6:37456788-37456789	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373586636	chr6:37456789-37456790	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556505012	chr6:37456795-37456796	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184811472	chr6:37456796-37456797	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545479720	chr6:37456798-37456799	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188798435	chr6:37456872-37456873	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113818906	chr6:37456873-37456874	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541746055	chr6:37456881-37456882	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144376172	chr6:37456884-37456885	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs552755497	chr6:37456905-37456906	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372519752	chr6:37456956-37456957	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528914751	chr6:37457003-37457004	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141701390	chr6:37457013-37457014	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72384520	chr6:37457014-37457015	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs71732156	chr6:37457030-37457031	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10666606	chr6:37457032-37457033	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377625897	chr6:37457033-37457034	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149115259	chr6:37457089-37457090	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2776915	chr6:37457105-37457106	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569423707	chr6:37457168-37457169	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531354960	chr6:37457176-37457177	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147820538	chr6:37457187-37457188	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571119242	chr6:37457329-37457330	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566316905	chr6:37457405-37457406	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533694425	chr6:37457411-37457412	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563508545	chr6:37457434-37457435	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs55738600	chr6:37457477-37457478	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141364447	chr6:37457522-37457523	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536524568	chr6:37457528-37457529	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556329559	chr6:37457560-37457561	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs181602393	chr6:37457620-37457621	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371574803	chr6:37457632-37457633	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs535771143	chr6:37457633-37457634	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77168122	chr6:37457648-37457649	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558960021	chr6:37457656-37457657	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs879482	chr6:37457663-37457664	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs541606461	chr6:37457664-37457665	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376215131	chr6:37457670-37457671	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561453624	chr6:37457709-37457710	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575241686	chr6:37457711-37457712	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs185316714	chr6:37457760-37457761	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371141648	chr6:37457761-37457762	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs531297102	chr6:37457767-37457768	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191152546	chr6:37457794-37457795	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37436200-37457200	Strong transcription	Primary T cells from cord blood	blood
2	chr6:37442000-37458800	Weak transcription	HUVEC	blood vessel
3	chr6:37443600-37466600	Weak transcription	A549	lung
4	chr6:37446800-37466600	Weak transcription	Hela-S3	cervix
5	chr6:37447600-37466800	Weak transcription	HSMM	muscle
6	chr6:37448400-37466800	Weak transcription	Stomach Mucosa	stomach
7	chr6:37448800-37457400	Weak transcription	Psoas Muscle	Psoas
8	chr6:37448800-37457800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:37449200-37457400	Weak transcription	NH-A	brain
10	chr6:37449400-37457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:37449600-37459800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:37449800-37457200	Strong transcription	Fetal Stomach	stomach
13	chr6:37449800-37457400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:37449800-37457600	Weak transcription	Brain Anterior Caudate	brain
15	chr6:37450000-37457200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:37450200-37457400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:37450200-37467200	Weak transcription	Small Intestine	intestine
18	chr6:37451000-37457800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:37451200-37458400	Weak transcription	Brain Angular Gyrus	brain
20	chr6:37451200-37459600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:37451200-37459800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:37451400-37457200	Weak transcription	Left Ventricle	heart
23	chr6:37451400-37457800	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:37451400-37458600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:37451400-37459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:37451400-37465600	Weak transcription	Colonic Mucosa	Colon
27	chr6:37451600-37457400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:37451600-37457600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:37451600-37458400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:37451600-37466800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:37451600-37467000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:37451800-37457200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:37451800-37457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:37451800-37459000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:37451800-37459000	Weak transcription	Liver	Liver
36	chr6:37451800-37462400	Enhancers	Fetal Brain Male	brain
37	chr6:37451800-37466600	Weak transcription	Primary B cells from cord blood	blood
38	chr6:37451800-37466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:37452000-37457000	Weak transcription	Right Ventricle	heart
40	chr6:37452000-37457000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:37452000-37457400	Weak transcription	Brain Substantia Nigra	brain
42	chr6:37452000-37457400	Weak transcription	HMEC	breast
43	chr6:37452000-37457600	Weak transcription	Fetal Lung	lung
44	chr6:37452000-37457800	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:37452000-37459600	Weak transcription	Esophagus	oesophagus
46	chr6:37452000-37459800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:37452000-37460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:37452000-37460800	Weak transcription	Ovary	ovary
49	chr6:37452000-37462200	Weak transcription	Aorta	Aorta
50	chr6:37452000-37466600	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links