Variant report

Variant	rs6970564
Chromosome Location	chr7:26342359-26342360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26335516..26340174-chr7:26340453..26343647,5	K562	blood:
2	chr7:26340483..26343827-chr7:26348426..26350723,3	K562	blood:
3	chr7:26332240..26334107-chr7:26341731..26343972,2	MCF-7	breast:
4	chr7:26341541..26343807-chr7:26346274..26348081,2	K562	blood:
5	chr7:26335544..26340174-chr7:26340481..26343647,5	K562	blood:
6	chr7:26337541..26339633-chr7:26341931..26343497,2	MCF-7	breast:
7	chr7:26340732..26342659-chr7:26342750..26344382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7794205	1.00[YRI][hapmap]
rs7798754	1.00[YRI][hapmap]

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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2761313	chr7:26340970-26389772	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26332400-26347000	Weak transcription	HMEC	breast
2	chr7:26332600-26347400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:26332600-26347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:26332800-26343000	Weak transcription	Spleen	Spleen
5	chr7:26332800-26346200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:26332800-26346400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:26332800-26346600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:26333400-26344600	Weak transcription	Placenta	Placenta
9	chr7:26333600-26346600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:26333600-26351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:26333800-26346800	Weak transcription	Pancreas	Pancrea
12	chr7:26334200-26346200	Weak transcription	K562	blood
13	chr7:26334600-26344800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:26334600-26344800	Weak transcription	Thymus	Thymus
15	chr7:26335000-26344600	Weak transcription	Fetal Thymus	thymus
16	chr7:26335000-26344800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:26335000-26353000	Weak transcription	GM12878-XiMat	blood
18	chr7:26335200-26344800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:26335200-26344800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:26335200-26344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:26335200-26386400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:26335400-26343200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:26338600-26343200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr7:26339000-26342400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:26339800-26342600	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr7:26339800-26343200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
27	chr7:26340000-26342600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr7:26340200-26342600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:26340200-26343000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:26340600-26342600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:26340600-26343000	Strong transcription	Primary B cells from cord blood	blood
32	chr7:26341000-26342400	Strong transcription	HepG2	liver
33	chr7:26341200-26342600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:26341400-26342600	Genic enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:26341800-26343000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:26342000-26343200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:26342000-26343200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:26342000-26343200	Strong transcription	Fetal Intestine Small	intestine
39	chr7:26342000-26344600	Weak transcription	Primary T cells from cord blood	blood
40	chr7:26342200-26342800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:26342200-26343000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:26342200-26343400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:26342200-26344200	Weak transcription	Liver	Liver
44	chr7:26342200-26345000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:26342200-26347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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