Variant report

Variant	rs375493811
Chromosome Location	chr6:4819790-4819791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4818061..4820249-chr6:4821057..4823900,2	MCF-7	breast:
2	chr6:4812864..4816772-chr6:4818234..4821083,3	MCF-7	breast:
3	chr6:4818944..4820656-chr6:4826722..4829112,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv966675	chr6:4819733-4855009	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4806800-4819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:4806800-4820200	Weak transcription	NHLF	lung
3	chr6:4806800-4820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:4807000-4821200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:4807200-4819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:4811200-4820000	Weak transcription	Colonic Mucosa	Colon
9	chr6:4811200-4820000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:4811200-4820000	Weak transcription	Spleen	Spleen
11	chr6:4811800-4820000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:4812400-4820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:4812400-4820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:4812400-4820000	Weak transcription	Placenta	Placenta
15	chr6:4812400-4820000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
17	chr6:4812600-4820200	Weak transcription	Right Ventricle	heart
18	chr6:4812600-4820800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:4812600-4826800	Weak transcription	HepG2	liver
20	chr6:4812800-4819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:4812800-4822800	Weak transcription	Adipose Nuclei	Adipose
22	chr6:4812800-4823000	Weak transcription	Primary T cells from cord blood	blood
23	chr6:4812800-4828800	Weak transcription	Hela-S3	cervix
24	chr6:4813200-4820200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:4813400-4820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:4814200-4829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:4815000-4821000	Weak transcription	Fetal Intestine Small	intestine
28	chr6:4815000-4826000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:4815000-4827400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:4815200-4823000	Weak transcription	Ovary	ovary
31	chr6:4815200-4824200	Weak transcription	Primary B cells from cord blood	blood
32	chr6:4815200-4829600	Weak transcription	Lung	lung
33	chr6:4815400-4820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:4815600-4820400	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:4816200-4820800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr6:4817000-4819800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:4817200-4820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:4817600-4820000	Weak transcription	NHEK	skin
39	chr6:4817800-4820000	Weak transcription	NHDF-Ad	bronchial
40	chr6:4817800-4820400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:4817800-4821000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:4817800-4827000	Weak transcription	K562	blood
43	chr6:4818000-4820000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:4818200-4819800	Weak transcription	A549	lung
45	chr6:4818200-4820400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:4818200-4821200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:4818400-4820000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:4818400-4820400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:4818600-4820200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:4818600-4820800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links