Variant report

Variant	rs10229003
Chromosome Location	chr7:101512945-101512946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101459336..101463472-chr7:101510229..101514118,3	K562	blood:
2	chr7:101511680..101514939-chr7:101582566..101587455,5	MCF-7	breast:
3	chr7:101508293..101510760-chr7:101510780..101514938,6	K562	blood:
4	chr7:101512493..101515121-chr7:101518914..101521779,2	MCF-7	breast:
5	chr7:101506275..101507892-chr7:101511497..101513888,2	K562	blood:
6	chr7:101487333..101490087-chr7:101511385..101514324,2	K562	blood:
7	chr7:101512598..101514582-chr7:101516207..101518095,2	K562	blood:
8	chr7:101511316..101513776-chr7:101520159..101522862,2	K562	blood:
9	chr7:101459336..101461034-chr7:101512323..101514118,2	K562	blood:
10	chr7:101350597..101352580-chr7:101511716..101513955,2	K562	blood:
11	chr7:101512554..101516171-chr7:101524650..101528130,5	MCF-7	breast:
12	chr7:101512083..101520283-chr7:101521327..101527237,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10224064	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10245008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261568	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10266326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768899	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410921	0.84[AFR][1000 genomes]
rs2970497	0.85[ASN][1000 genomes]
rs4236559	1.00[CHB][hapmap]
rs4727511	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4729755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729758	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6465836	1.00[CHB][hapmap]
rs6957294	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6978555	0.81[ASN][1000 genomes]
rs6979596	0.85[ASN][1000 genomes]
rs7803747	1.00[CHB][hapmap]

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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101500400-101513400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:101500600-101513200	Weak transcription	Aorta	Aorta
3	chr7:101501000-101513400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:101501000-101513400	Weak transcription	Osteobl	bone
5	chr7:101501000-101517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:101501000-101523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:101501000-101525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:101502000-101513000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:101503000-101513000	Weak transcription	Brain Angular Gyrus	brain
10	chr7:101503000-101513200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:101503200-101513200	Weak transcription	Brain Substantia Nigra	brain
12	chr7:101503400-101517400	Weak transcription	Primary B cells from cord blood	blood
13	chr7:101504000-101513400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:101504000-101513400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:101504400-101513000	Weak transcription	Fetal Brain Female	brain
16	chr7:101504800-101518200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:101505800-101513200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:101506000-101513400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:101506200-101513200	Weak transcription	HSMM	muscle
20	chr7:101509000-101513000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:101509000-101513200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:101509000-101513600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:101509000-101522600	Weak transcription	Primary T cells from cord blood	blood
24	chr7:101509200-101513200	Weak transcription	Liver	Liver
25	chr7:101509200-101513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:101509200-101517200	Weak transcription	Dnd41	blood
27	chr7:101509200-101517200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:101509400-101513400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:101509800-101514000	Enhancers	Fetal Thymus	thymus
30	chr7:101510000-101514400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr7:101510200-101513000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:101510600-101513800	Enhancers	A549	lung
33	chr7:101510600-101514800	Enhancers	Lung	lung
34	chr7:101510600-101515000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:101510600-101515000	Enhancers	Pancreas	Pancrea
36	chr7:101510600-101515000	Enhancers	Right Ventricle	heart
37	chr7:101510800-101514400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:101511000-101514600	Enhancers	Thymus	Thymus
39	chr7:101511200-101514600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:101511400-101513600	Enhancers	Psoas Muscle	Psoas
41	chr7:101511400-101513800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:101511400-101513800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:101511400-101513800	Enhancers	Fetal Muscle Leg	muscle
44	chr7:101511400-101514400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:101511400-101514400	Enhancers	Colon Smooth Muscle	Colon
46	chr7:101511400-101514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:101511400-101514800	Enhancers	Fetal Intestine Large	intestine
48	chr7:101511400-101514800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr7:101511400-101515000	Enhancers	Fetal Heart	heart
50	chr7:101511400-101515000	Enhancers	Placenta Amnion	Placenta Amnion

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