Variant report

Variant	esv3440241
Chromosome Location	chr6:36916884-36917188
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	ESR1	chr6:36916990-36917343	ECC-1	luminal epithelium:	n/a	chr6:36917192-36917207
2	ESR1	chr6:36916958-36917376	ECC-1	luminal epithelium:	n/a	chr6:36917192-36917207
3	ESR1	chr6:36917019-36917419	ECC-1	luminal epithelium:	n/a	chr6:36917192-36917207
4	ESR1	chr6:36917061-36917345	ECC-1	luminal epithelium:	n/a	chr6:36917192-36917207
5	MYC	chr6:36917009-36917209	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36915747..36919680-chr6:36919787..36923449,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTCH1-1	chr6:36915528-36916894	ucscGeneNc_uc003omt_1
2	lnc-MTCH1-1	chr6:36917155-36917266	ucscGeneNc_uc003omt_1

Variant related genes	Relation type
ENSG00000232598	TF binding region
ENSG00000164530	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530801518	chr6:36916917-36916918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560975414	chr6:36916930-36916931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369375396	chr6:36916943-36916944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533170700	chr6:36916966-36916967	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11964218	chr6:36917016-36917017	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546629670	chr6:36917028-36917029	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566612204	chr6:36917034-36917035	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185047624	chr6:36917065-36917066	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12525985	chr6:36917094-36917095	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs190734253	chr6:36917095-36917096	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569366142	chr6:36917119-36917120	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538490280	chr6:36917124-36917125	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574843076	chr6:36917128-36917129	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs578227792	chr6:36917141-36917142	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192459586	chr6:36917150-36917151	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36898600-36922200	Weak transcription	Right Atrium	heart
2	chr6:36913200-36917000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:36914400-36917200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:36915200-36917000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:36915400-36917800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:36915400-36918000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:36915600-36917200	Weak transcription	NHEK	skin
8	chr6:36915800-36917000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:36915800-36918000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:36916000-36917000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:36916000-36917000	Weak transcription	HUVEC	blood vessel
12	chr6:36916000-36917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:36916000-36917200	Enhancers	Hela-S3	cervix
14	chr6:36916000-36917200	Weak transcription	NH-A	brain
15	chr6:36916000-36921400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:36916000-36923000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:36916200-36917000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:36916200-36917000	Enhancers	Thymus	Thymus
19	chr6:36916200-36917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:36916200-36917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:36916200-36917200	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:36916200-36917200	Weak transcription	HMEC	breast
23	chr6:36916200-36917600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:36916200-36919400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:36916200-36920800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:36916200-36920800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:36916200-36921200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:36916200-36921200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:36916200-36921600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:36916200-36922600	Weak transcription	Brain Anterior Caudate	brain
31	chr6:36916200-36923000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:36916400-36917400	Enhancers	Fetal Thymus	thymus
33	chr6:36916400-36917600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:36916400-36920600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:36916400-36920600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:36916400-36920600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:36916400-36921400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:36916400-36921400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:36916400-36921400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:36916600-36917000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:36916600-36920600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:36916600-36921200	Weak transcription	Primary T cells from cord blood	blood
43	chr6:36916600-36921800	Weak transcription	Dnd41	blood
44	chr6:36916800-36918600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:36916800-36921200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:36917000-36917200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:36917000-36917200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:36917000-36917400	Enhancers	HUVEC	blood vessel
49	chr6:36917000-36917600	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:36917000-36917800	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links