Variant report

Variant	esv3396416
Chromosome Location	chr6:11734466-11738764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr6:11736327-11736806	GM12878	blood:	n/a	n/a
2	BCL3	chr6:11736345-11736845	GM12878	blood:	n/a	n/a
3	CEBPB	chr6:11735252-11735368	HepG2	liver:	n/a	n/a
4	CTCF	chr6:11735980-11736130	HBMEC	blood vessel:	n/a	n/a
5	EBF1	chr6:11735122-11735459	GM12878	blood:	n/a	n/a
6	EP300	chr6:11735110-11735914	T-47D	breast:	n/a	chr6:11735671-11735681
7	EP300	chr6:11734984-11736094	T-47D	breast:	n/a	chr6:11735671-11735681 chr6:11735981-11735995
8	ESR1	chr6:11735516-11735916	T-47D	breast:	n/a	n/a
9	FOS	chr6:11735397-11735693	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr6:11735333-11735716	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr6:11735337-11735787	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:11735386-11735687	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr6:11735126-11735987	T-47D	breast:	n/a	chr6:11735670-11735685
14	FOXA1	chr6:11735226-11735924	T-47D	breast:	n/a	chr6:11735670-11735685
15	GATA3	chr6:11735314-11736151	MCF-7	breast:	n/a	n/a
16	GATA3	chr6:11735134-11735978	T-47D	breast:	n/a	n/a
17	GATA3	chr6:11735186-11736024	T-47D	breast:	n/a	n/a
18	GATA3	chr6:11735290-11736082	MCF-7	breast:	n/a	n/a
19	JUND	chr6:11735318-11736102	T-47D	breast:	n/a	n/a
20	JUND	chr6:11735138-11736064	T-47D	breast:	n/a	n/a
21	MYC	chr6:11734526-11734534	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr6:11738525-11738562	MCF-7	breast:	n/a	n/a
23	MYC	chr6:11735494-11735649	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr6:11735436-11735663	MCF10A-Er-Src	breast:	n/a	n/a
25	NFATC1	chr6:11736353-11736805	GM12878	blood:	n/a	n/a
26	PBX3	chr6:11736369-11736644	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:11736741-11736848	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:11738572-11738581	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:11738474-11738569	MCF-7	breast:	n/a	n/a
30	SIN3AK20	chr6:11735291-11736119	MCF-7	breast:	n/a	n/a
31	STAT3	chr6:11735516-11735745	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr6:11735447-11735635	MCF10A-Er-Src	breast:	n/a	n/a
33	TCF12	chr6:11735223-11736206	MCF-7	breast:	n/a	chr6:11735341-11735348
34	TCF3	chr6:11735195-11735365	GM12878	blood:	n/a	n/a
35	TCF3	chr6:11735061-11735492	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11737947..11739936-chr6:11767756..11769331,2	MCF-7	breast:
2	chr15:52972928..52973805-chr6:11737938..11738770,2	MCF-7	breast:
3	chr6:11723063..11725185-chr6:11732645..11735491,2	K562	blood:
4	chr6:11723926..11725711-chr6:11733477..11735503,2	MCF-7	breast:
5	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:
6	chr6:11732175..11734663-chr6:11982258..11984188,2	MCF-7	breast:
7	chr6:11722035..11725191-chr6:11730801..11735491,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEDD9-2	chr6:11736237-11736947	NONHSAT107762
2	lnc-NEDD9-2	chr6:11735801-11735916	NONHSAT107762

No data

Variant related genes	Relation type
ADTRP	TF binding region
ENSG00000111863	chromatin interactions
ENSG00000095951	chromatin interactions
ENSG00000229896	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs577992653	chr6:11734489-11734490	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530999829	chr6:11734498-11734499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542461532	chr6:11734509-11734510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141822878	chr6:11734536-11734537	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560679734	chr6:11734559-11734560	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529330737	chr6:11734590-11734591	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543243272	chr6:11734602-11734603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563040352	chr6:11734603-11734604	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146062786	chr6:11734627-11734628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188332472	chr6:11734628-11734629	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140044234	chr6:11734631-11734632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2781126	chr6:11734660-11734661	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181100560	chr6:11734700-11734701	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557035936	chr6:11734741-11734742	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546268747	chr6:11734763-11734764	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs566570312	chr6:11734773-11734774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535173498	chr6:11734790-11734791	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555159368	chr6:11734798-11734799	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs79389243	chr6:11734859-11734860	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs932345	chr6:11734862-11734863	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs186594750	chr6:11734888-11734889	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78648689	chr6:11734924-11734925	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540634050	chr6:11734939-11734940	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs72184589	chr6:11734940-11734941	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs398065570	chr6:11734956-11734957	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553836635	chr6:11734959-11734960	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569610364	chr6:11734979-11734980	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79013400	chr6:11734995-11734996	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs543107059	chr6:11735002-11735003	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572072181	chr6:11735016-11735017	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562953375	chr6:11735066-11735067	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531968714	chr6:11735074-11735075	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545613618	chr6:11735092-11735093	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567619491	chr6:11735107-11735108	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191472627	chr6:11735152-11735153	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150858562	chr6:11735161-11735162	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs67133409	chr6:11735180-11735181	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs386697145	chr6:11735182-11735183	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191921	chr6:11735184-11735185	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs186233750	chr6:11735228-11735229	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139296876	chr6:11735230-11735231	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566523809	chr6:11735236-11735237	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568610025	chr6:11735237-11735238	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537692381	chr6:11735257-11735258	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs397840100	chr6:11735258-11735259	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557492268	chr6:11735307-11735308	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558766296	chr6:11735353-11735354	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372274493	chr6:11735363-11735364	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571523438	chr6:11735373-11735374	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533814773	chr6:11735392-11735393	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11723200-11738400	Weak transcription	HMEC	breast
3	chr6:11723600-11744200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:11725200-11748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:11726400-11744600	Weak transcription	Right Atrium	heart
6	chr6:11730200-11736200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:11731400-11734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:11732000-11735800	Weak transcription	Spleen	Spleen
9	chr6:11732000-11737400	Weak transcription	Ovary	ovary
10	chr6:11732400-11736200	Strong transcription	NHEK	skin
11	chr6:11732400-11744800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:11732600-11740000	Weak transcription	Psoas Muscle	Psoas
14	chr6:11732800-11735000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:11732800-11735200	Weak transcription	Stomach Mucosa	stomach
16	chr6:11732800-11738800	Weak transcription	Small Intestine	intestine
17	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:11733000-11736000	Enhancers	GM12878-XiMat	blood
19	chr6:11733000-11736800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:11733000-11737000	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:11733000-11741400	Weak transcription	HSMM	muscle
22	chr6:11733200-11734800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:11733200-11734800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:11733200-11735200	Weak transcription	Fetal Thymus	thymus
25	chr6:11733200-11735200	Weak transcription	Pancreas	Pancrea
26	chr6:11733200-11735800	Weak transcription	Gastric	stomach
27	chr6:11733400-11734600	Strong transcription	HSMMtube	muscle
28	chr6:11733400-11735200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:11733400-11738400	Weak transcription	Adipose Nuclei	Adipose
30	chr6:11733600-11734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:11733600-11735600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:11733600-11736200	Weak transcription	Fetal Brain Male	brain
33	chr6:11733600-11738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:11733600-11738400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:11734000-11735200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:11734000-11736000	Weak transcription	Esophagus	oesophagus
37	chr6:11734000-11738800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:11734200-11734600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:11734400-11735600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:11734600-11735200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:11734600-11736000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:11734600-11745000	Weak transcription	HSMMtube	muscle
43	chr6:11734800-11735200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:11734800-11735400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:11734800-11736000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:11735000-11735400	Enhancers	Fetal Kidney	kidney
47	chr6:11735000-11735600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:11735200-11735600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr6:11735200-11735600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:11735200-11736200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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