Variant report

Variant	rs6699594
Chromosome Location	chr1:47222082-47222083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47221048..47223209-chr1:47267479..47269912,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12059461	1.00[AMR][1000 genomes]
rs6699593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47215200-47226000	Weak transcription	Lung	lung
2	chr1:47218200-47222800	Enhancers	NHEK	skin
3	chr1:47219400-47224600	Enhancers	Placenta	Placenta
4	chr1:47219400-47225600	Enhancers	Fetal Intestine Small	intestine
5	chr1:47219400-47231600	Enhancers	Fetal Intestine Large	intestine
6	chr1:47219600-47223200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:47219800-47223000	Enhancers	HMEC	breast
8	chr1:47219800-47224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:47220800-47222400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:47220800-47222400	Enhancers	Stomach Mucosa	stomach
11	chr1:47221000-47223600	Weak transcription	Fetal Lung	lung
12	chr1:47221000-47225000	Weak transcription	HUVEC	blood vessel
13	chr1:47221400-47224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:47221600-47222400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:47221600-47222600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:47221800-47222200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:47221800-47222200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:47221800-47222200	Enhancers	Gastric	stomach
19	chr1:47221800-47222400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:47221800-47223000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:47222000-47222200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:47222000-47222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:47222000-47223000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:47222000-47223000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:47222000-47223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:47222000-47223000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:47222000-47223000	Weak transcription	Fetal Kidney	kidney
28	chr1:47222000-47223000	Weak transcription	Pancreas	Pancrea
29	chr1:47222000-47223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:47222000-47223600	Weak transcription	Esophagus	oesophagus
31	chr1:47222000-47224400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:47222000-47225000	Weak transcription	Small Intestine	intestine

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