Variant report

Variant	rs434564
Chromosome Location	chr7:101591561-101591562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101586695..101588512-chr7:101590160..101592352,2	K562	blood:
2	chr7:101455300..101463809-chr7:101582792..101593292,40	MCF-7	breast:
3	chr7:101591380..101593397-chr7:101609992..101611735,2	K562	blood:
4	chr7:101583175..101586097-chr7:101587882..101593351,5	K562	blood:
5	chr7:101588702..101590928-chr7:101591262..101593681,2	MCF-7	breast:
6	chr7:101587051..101588578-chr7:101589837..101592703,2	MCF-7	breast:
7	chr7:101584398..101586117-chr7:101590854..101593912,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2906649	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2906653	0.83[ASN][1000 genomes]
rs2970477	0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2970478	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970493	0.86[JPT][hapmap]
rs2970494	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs385854	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs386137	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs404284	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs416466	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs425768	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs425964	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs427039	0.91[JPT][hapmap]
rs433736	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs439124	0.86[JPT][hapmap]
rs440923	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs441601	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs441780	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4727514	0.85[ASN][1000 genomes]
rs4729764	0.92[CEU][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4729766	0.84[ASN][1000 genomes]
rs6954798	0.82[ASN][1000 genomes]
rs727544	0.82[ASN][1000 genomes]
rs740302	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs876826	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101567000-101596000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:101570200-101597000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:101577600-101595600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:101578200-101612000	Weak transcription	HepG2	liver
5	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:101583400-101608000	Weak transcription	Primary B cells from cord blood	blood
7	chr7:101584400-101596200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:101585600-101594400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:101585800-101592400	Enhancers	Left Ventricle	heart
10	chr7:101586000-101603200	Weak transcription	Fetal Intestine Large	intestine
11	chr7:101586200-101594000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:101586200-101595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:101586200-101595800	Weak transcription	GM12878-XiMat	blood
14	chr7:101586400-101593200	Weak transcription	Hela-S3	cervix
15	chr7:101586400-101595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:101586400-101595800	Weak transcription	Colonic Mucosa	Colon
17	chr7:101586400-101595800	Weak transcription	NHDF-Ad	bronchial
18	chr7:101586400-101596000	Weak transcription	HMEC	breast
19	chr7:101586400-101596200	Weak transcription	NHEK	skin
20	chr7:101586400-101615800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:101586400-101620600	Weak transcription	Adipose Nuclei	Adipose
22	chr7:101587000-101592200	Enhancers	Fetal Muscle Leg	muscle
23	chr7:101587000-101598000	Strong transcription	Fetal Intestine Small	intestine
24	chr7:101587000-101601200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:101587800-101596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:101588200-101591600	Enhancers	Liver	Liver
27	chr7:101588400-101595600	Weak transcription	Dnd41	blood
28	chr7:101588400-101595800	Weak transcription	Spleen	Spleen
29	chr7:101588600-101596000	Weak transcription	Placenta	Placenta
30	chr7:101588800-101592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:101588800-101594800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:101589000-101592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:101589200-101594000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:101589400-101591600	Weak transcription	Thymus	Thymus
35	chr7:101589400-101595400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:101589400-101595800	Weak transcription	Gastric	stomach
37	chr7:101589600-101595600	Weak transcription	Esophagus	oesophagus
38	chr7:101589600-101595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:101589800-101591600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:101590000-101591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:101590000-101592000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:101590000-101592200	Enhancers	Fetal Stomach	stomach
43	chr7:101590000-101592200	Enhancers	Ovary	ovary
44	chr7:101590000-101593000	Weak transcription	Fetal Thymus	thymus
45	chr7:101590200-101591800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:101590200-101592400	Enhancers	Right Atrium	heart
47	chr7:101590400-101591800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:101590400-101592000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:101590400-101592600	Enhancers	Brain Germinal Matrix	brain
50	chr7:101590600-101591600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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