Variant report

Variant	esv6147
Chromosome Location	chr6:106983388-106984219
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	GATA3	chr6:106984132-106985320	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr6:106984093-106985341	SK-N-SH	brain:	n/a	n/a
3	JUND	chr6:106984122-106985346	SK-N-SH	brain:	n/a	n/a
4	MAX	chr6:106984150-106984160	NB4	blood:	n/a	n/a
5	PBX3	chr6:106984182-106985261	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr6:106983895-106984261	GM12892	blood:	n/a	n/a
7	POLR2A	chr6:106983923-106984471	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:106983825-106984239	GM12892	blood:	n/a	n/a
9	TCF12	chr6:106984109-106985336	SK-N-SH	brain:	n/a	chr6:106984947-106984954
10	TCF12	chr6:106984013-106985387	SK-N-SH	brain:	n/a	chr6:106984947-106984954

No.	Distal block	Cell Line	Cell type
1	chr6:106972979..106975776-chr6:106983451..106985409,2	MCF-7	breast:
2	chr6:106982668..106985044-chr6:106987673..106989483,2	K562	blood:
3	chr6:106982665..106985601-chr6:106993025..106995759,2	MCF-7	breast:

Variant related genes	Relation type
AIM1	TF binding region
ENSG00000112297	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9480682	chr6:106983406-106983407	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576678058	chr6:106983423-106983424	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13218960	chr6:106983465-106983466	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs72941326	chr6:106983481-106983482	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs57111135	chr6:106983507-106983508	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13219061	chr6:106983511-106983512	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs148836148	chr6:106983526-106983527	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143433741	chr6:106983545-106983546	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13202942	chr6:106983546-106983547	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs576471917	chr6:106983554-106983555	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568719067	chr6:106983559-106983560	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369567751	chr6:106983571-106983572	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370954232	chr6:106983604-106983605	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200927583	chr6:106983637-106983638	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201899538	chr6:106983638-106983639	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112694509	chr6:106983642-106983643	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113311980	chr6:106983653-106983654	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62420967	chr6:106983753-106983754	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62420968	chr6:106983800-106983801	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11966092	chr6:106983834-106983835	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62420969	chr6:106983910-106983911	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537602369	chr6:106983939-106983940	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548126232	chr6:106983940-106983941	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568256904	chr6:106983941-106983942	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189702901	chr6:106984011-106984012	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113210470	chr6:106984037-106984038	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576746479	chr6:106984052-106984053	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539557132	chr6:106984091-106984092	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112000186	chr6:106984104-106984105	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs58583403	chr6:106984106-106984107	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527532840	chr6:106984119-106984120	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs783402	chr6:106984120-106984121	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574748599	chr6:106984219-106984220	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-107001400	Weak transcription	Gastric	stomach
2	chr6:106964800-106991000	Weak transcription	Spleen	Spleen
3	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
4	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:106973400-106985600	Weak transcription	Stomach Mucosa	stomach
6	chr6:106973600-106985800	Weak transcription	Thymus	Thymus
7	chr6:106973600-106986000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:106973600-106992800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:106975000-106983400	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr6:106976400-106986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:106976600-106991400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:106977000-106986400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:106978600-106983400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:106978800-106984200	Weak transcription	NH-A	brain
15	chr6:106978800-106985600	Weak transcription	Fetal Thymus	thymus
16	chr6:106978800-106993800	Weak transcription	NHLF	lung
17	chr6:106979000-107001400	Weak transcription	Pancreas	Pancrea
18	chr6:106979600-106984200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:106979600-106987200	Weak transcription	HepG2	liver
20	chr6:106980200-106984400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:106980800-106983400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:106980800-106984400	Genic enhancers	HMEC	breast
23	chr6:106980800-106986200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:106980800-106986400	Strong transcription	Liver	Liver
25	chr6:106981200-106984600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:106981400-106988000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:106981600-106984600	Genic enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:106981600-106995600	Weak transcription	Colonic Mucosa	Colon
29	chr6:106981800-106983600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:106981800-106984000	Weak transcription	Fetal Intestine Small	intestine
31	chr6:106981800-106985200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:106981800-106985600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:106981800-106985600	Weak transcription	Esophagus	oesophagus
34	chr6:106981800-106987800	Weak transcription	Lung	lung
35	chr6:106982000-106983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:106982200-106983400	Weak transcription	Dnd41	blood
37	chr6:106982200-106984200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:106982400-106984600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr6:106982400-106984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr6:106982400-106984800	Genic enhancers	NHEK	skin
41	chr6:106982400-106986000	Weak transcription	Placenta	Placenta
42	chr6:106982400-106987400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:106982400-106987600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr6:106982400-106987800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:106982400-107000800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:106982600-106983400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:106982600-106984000	Weak transcription	Primary T cells from cord blood	blood
48	chr6:106982600-106984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:106982600-106984000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:106982600-106984000	Weak transcription	Rectal Mucosa Donor 29	rectum

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