Variant report

Variant	rs7591102
Chromosome Location	chr2:39645204-39645205
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39643804..39646063-chr2:39663666..39665517,2	MCF-7	breast:
2	chr2:39643207..39646078-chr2:39648407..39650074,2	K562	blood:
3	chr2:39644171..39645805-chr2:47402982..47405230,2	K562	blood:
4	chr2:39635451..39641229-chr2:39641645..39645299,6	MCF-7	breast:
5	chr2:39635276..39640508-chr2:39640941..39645614,10	K562	blood:
6	chr2:39643905..39646272-chr2:39657496..39659810,2	MCF-7	breast:
7	chr2:39642094..39644271-chr2:39644504..39647283,3	K562	blood:
8	chr2:39642838..39645450-chr2:39657928..39659607,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10169391	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10170424	0.87[AFR][1000 genomes]
rs10170604	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10175333	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10181650	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10196253	0.83[ASN][1000 genomes]
rs11124679	0.83[AFR][1000 genomes]
rs11124681	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11688998	0.83[ASN][1000 genomes]
rs12712641	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13028561	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1474424	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1477164	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17023656	0.83[ASN][1000 genomes]
rs17023777	0.83[ASN][1000 genomes]
rs2056654	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2111382	0.83[AMR][1000 genomes]
rs2160661	0.83[AMR][1000 genomes]
rs2178762	0.82[AFR][1000 genomes]
rs2373536	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2888598	0.82[AFR][1000 genomes]
rs4670934	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4670935	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4670936	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56833014	0.83[ASN][1000 genomes]
rs57232122	0.83[ASN][1000 genomes]
rs58704884	0.83[ASN][1000 genomes]
rs60192971	0.83[ASN][1000 genomes]
rs61480659	0.83[ASN][1000 genomes]
rs6419603	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6544222	0.80[AFR][1000 genomes]
rs6544223	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6544226	0.89[ASN][1000 genomes]
rs6544228	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6717792	0.85[AFR][1000 genomes]
rs6724393	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6730902	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6732611	0.88[AFR][1000 genomes]
rs6741312	0.83[AMR][1000 genomes]
rs6759495	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7582160	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7595041	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7603392	0.91[AFR][1000 genomes];0.83[AMR][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	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39636600-39651400	Weak transcription	Fetal Thymus	thymus
2	chr2:39637200-39647000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:39637600-39651400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:39638800-39652400	Weak transcription	Hela-S3	cervix
6	chr2:39639000-39649000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
8	chr2:39639600-39646800	Weak transcription	Fetal Lung	lung
9	chr2:39639600-39657200	Weak transcription	HMEC	breast
10	chr2:39640600-39647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:39640800-39647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:39640800-39647000	Weak transcription	Spleen	Spleen
13	chr2:39640800-39649200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:39640800-39652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:39640800-39656800	Weak transcription	NH-A	brain
16	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:39641000-39645400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:39641000-39645600	Weak transcription	Fetal Intestine Small	intestine
19	chr2:39641000-39646600	Weak transcription	Aorta	Aorta
20	chr2:39641000-39651600	Weak transcription	HSMMtube	muscle
21	chr2:39641000-39656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:39641200-39646000	Weak transcription	HSMM	muscle
23	chr2:39641200-39650200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:39641200-39659600	Weak transcription	Brain Angular Gyrus	brain
25	chr2:39641400-39645600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:39641400-39649200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:39642000-39645800	Enhancers	NHDF-Ad	bronchial
28	chr2:39642400-39646000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:39642400-39647400	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:39642600-39645600	Weak transcription	HepG2	liver
31	chr2:39643200-39647200	Enhancers	Fetal Heart	heart
32	chr2:39643200-39647400	Enhancers	A549	lung
33	chr2:39643400-39646200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:39643400-39646400	Enhancers	Adipose Nuclei	Adipose
35	chr2:39643400-39646800	Enhancers	Osteobl	bone
36	chr2:39643400-39647400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:39643400-39647400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:39643600-39646400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:39643600-39646800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:39643800-39645600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:39643800-39645800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:39643800-39646000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:39643800-39646200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:39643800-39647000	Weak transcription	Brain Germinal Matrix	brain
45	chr2:39644000-39645400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:39644000-39645600	Weak transcription	Brain Substantia Nigra	brain
47	chr2:39644000-39645600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:39644200-39645400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:39644200-39645800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:39644200-39646200	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links