Variant report

Variant	rs72830129
Chromosome Location	chr6:2036961-2036962
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	chr6:2030064..2032046-chr6:2035936..2037834,2	K562	blood:
2	chr6:2009784..2011598-chr6:2035176..2037362,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72830126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830147	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv527735	chr6:2028237-2097654	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2019800-2040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:2022400-2042800	Weak transcription	Right Atrium	heart
3	chr6:2022400-2055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:2022400-2080600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:2029200-2037000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:2029800-2040400	Weak transcription	Stomach Mucosa	stomach
7	chr6:2030000-2053600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:2030800-2038400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:2031200-2039000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:2031800-2041800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:2032000-2037000	Weak transcription	Fetal Thymus	thymus
12	chr6:2032600-2037600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:2032600-2038000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:2032600-2043400	Weak transcription	HSMM	muscle
15	chr6:2034200-2044400	Weak transcription	Primary B cells from cord blood	blood
16	chr6:2035200-2038200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:2035400-2038400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:2035600-2037600	Weak transcription	Gastric	stomach
19	chr6:2035600-2038600	Weak transcription	Pancreas	Pancrea
20	chr6:2035600-2052600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:2035800-2038400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:2036400-2039000	Enhancers	Fetal Kidney	kidney
23	chr6:2036600-2037200	Bivalent Enhancer	Fetal Lung	lung
24	chr6:2036600-2038000	Enhancers	Thymus	Thymus
25	chr6:2036800-2037200	Strong transcription	HepG2	liver
26	chr6:2036800-2037600	Weak transcription	Liver	Liver
27	chr6:2036800-2038200	Enhancers	Dnd41	blood

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