Variant report

Variant	rs549702147
Chromosome Location	chr6:4820582-4820583
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4812864..4816772-chr6:4818234..4821083,3	MCF-7	breast:
2	chr6:4818944..4820656-chr6:4826722..4829112,2	K562	blood:
3	chr6:4820521..4822637-chr6:4825444..4827766,3	MCF-7	breast:

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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:4807000-4821200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
5	chr6:4812600-4820800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:4812600-4826800	Weak transcription	HepG2	liver
7	chr6:4812800-4822800	Weak transcription	Adipose Nuclei	Adipose
8	chr6:4812800-4823000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:4812800-4828800	Weak transcription	Hela-S3	cervix
10	chr6:4814200-4829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:4815000-4821000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:4815000-4826000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:4815000-4827400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:4815200-4823000	Weak transcription	Ovary	ovary
15	chr6:4815200-4824200	Weak transcription	Primary B cells from cord blood	blood
16	chr6:4815200-4829600	Weak transcription	Lung	lung
17	chr6:4816200-4820800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:4817800-4821000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:4817800-4827000	Weak transcription	K562	blood
20	chr6:4818200-4821200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:4818600-4820800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:4818600-4821000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:4819000-4820800	Enhancers	Fetal Thymus	thymus
24	chr6:4819000-4821000	Enhancers	Small Intestine	intestine
25	chr6:4819000-4821400	Enhancers	GM12878-XiMat	blood
26	chr6:4819200-4820800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:4819200-4822200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:4819200-4822800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:4819400-4821200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:4819600-4821200	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:4819800-4820800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:4819800-4821200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:4820000-4820600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:4820000-4820800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:4820000-4820800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:4820000-4820800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr6:4820000-4821000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:4820000-4821000	Enhancers	Placenta	Placenta
39	chr6:4820000-4821200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:4820000-4821200	Enhancers	Psoas Muscle	Psoas
41	chr6:4820000-4821200	Enhancers	Spleen	Spleen
42	chr6:4820000-4821400	Enhancers	NHDF-Ad	bronchial
43	chr6:4820000-4821400	Enhancers	NHEK	skin
44	chr6:4820200-4820600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:4820200-4820800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr6:4820200-4820800	Weak transcription	Colonic Mucosa	Colon
47	chr6:4820200-4821000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:4820200-4821000	Enhancers	NHLF	lung
49	chr6:4820200-4821200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:4820200-4821200	Enhancers	Osteobl	bone

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