Variant report

Variant	rs2267705
Chromosome Location	chr7:139696248-139696249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139665628..139667310-chr7:139694629..139696655,2	K562	blood:
2	chr7:139298062..139299639-chr7:139695745..139697725,2	K562	blood:
3	chr7:139694172..139696537-chr7:139698410..139700449,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11761051	0.95[CHB][hapmap];0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs2010742	0.83[ASN][1000 genomes]
rs2267704	0.81[CHB][hapmap];0.84[CHD][hapmap];0.94[MEX][hapmap]
rs2267706	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2284212	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2284213	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2362457	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3779130	0.95[CHB][hapmap];0.81[CHD][hapmap]
rs3801147	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs740204	0.90[CHB][hapmap]
rs7789470	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7795996	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][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	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1828807	chr7:139675550-139727974	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv608476	chr7:139696248-139717200	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139672000-139704400	Weak transcription	Lung	lung
2	chr7:139681000-139717800	Weak transcription	Thymus	Thymus
3	chr7:139689600-139701800	Weak transcription	Fetal Kidney	kidney
4	chr7:139690800-139705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:139691200-139706000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:139691400-139697600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:139692000-139706400	Weak transcription	Spleen	Spleen
8	chr7:139692600-139700800	Weak transcription	Fetal Thymus	thymus
9	chr7:139693200-139696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:139693200-139729000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:139693400-139697600	Enhancers	Brain Hippocampus Middle	brain
12	chr7:139693400-139697800	Enhancers	Brain Substantia Nigra	brain
13	chr7:139694200-139697000	Enhancers	Fetal Lung	lung
14	chr7:139694600-139696400	Enhancers	Placenta	Placenta
15	chr7:139695000-139707400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:139695200-139697600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:139695200-139700000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:139695200-139721600	Weak transcription	Colonic Mucosa	Colon
19	chr7:139695400-139696400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:139695400-139697000	Weak transcription	Brain Germinal Matrix	brain
21	chr7:139695400-139699000	Weak transcription	Right Ventricle	heart
22	chr7:139695400-139706000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:139695600-139696400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:139695600-139696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:139695600-139701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:139695600-139703800	Weak transcription	A549	lung
27	chr7:139695800-139701800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:139695800-139705400	Weak transcription	Fetal Heart	heart
29	chr7:139695800-139706400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:139695800-139709000	Weak transcription	Gastric	stomach
31	chr7:139696200-139697000	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links