Variant report

Variant	rs2906731
Chromosome Location	chr7:101397506-101397507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101389951..101392799-chr7:101396362..101398401,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10228981	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247290	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258318	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11975225	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11977362	0.87[ASN][1000 genomes]
rs11977381	0.87[ASN][1000 genomes]
rs11984246	0.87[ASN][1000 genomes]
rs17135758	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28416662	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28419515	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906725	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906726	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906727	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906728	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906729	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906730	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906736	0.96[ASN][1000 genomes]
rs2906737	0.89[ASN][1000 genomes]
rs2906738	0.93[ASN][1000 genomes]
rs2906739	0.93[ASN][1000 genomes]
rs2949324	0.93[ASN][1000 genomes]
rs2949325	0.93[ASN][1000 genomes]
rs2949326	0.93[ASN][1000 genomes]
rs2949327	0.93[ASN][1000 genomes]
rs2949329	0.96[ASN][1000 genomes]
rs2949332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949333	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949334	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2949335	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949336	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949337	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970475	0.93[ASN][1000 genomes]
rs2970476	0.93[ASN][1000 genomes]
rs2970481	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970484	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970485	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2970486	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970487	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970488	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2970490	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970491	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970492	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354243	0.87[ASN][1000 genomes]
rs56024574	0.87[ASN][1000 genomes]
rs56257366	0.87[ASN][1000 genomes]
rs57730474	0.93[ASN][1000 genomes]
rs6975182	0.85[ASN][1000 genomes]
rs73400071	1.00[ASN][1000 genomes]
rs9691113	0.96[ASN][1000 genomes]
rs9691915	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101387400-101397600	Weak transcription	Right Atrium	heart
2	chr7:101397200-101397600	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:101397200-101397800	Enhancers	Fetal Thymus	thymus
4	chr7:101397200-101398600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:101397400-101397600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
6	chr7:101397400-101397600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:101397400-101397600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:101397400-101397600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr7:101397400-101397600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:101397400-101397600	Enhancers	Liver	Liver
11	chr7:101397400-101397600	Enhancers	Brain Anterior Caudate	brain
12	chr7:101397400-101397600	Enhancers	Brain Germinal Matrix	brain
13	chr7:101397400-101397600	Enhancers	Duodenum Mucosa	Duodenum
14	chr7:101397400-101397600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:101397400-101397600	Enhancers	Fetal Kidney	kidney
16	chr7:101397400-101397600	Enhancers	Fetal Stomach	stomach
17	chr7:101397400-101397600	Enhancers	Thymus	Thymus
18	chr7:101397400-101397600	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:101397400-101397600	Active TSS	Hela-S3	cervix
20	chr7:101397400-101397600	Enhancers	HMEC	breast
21	chr7:101397400-101397600	Flanking Active TSS	NHEK	skin
22	chr7:101397400-101397600	Bivalent Enhancer	Osteobl	bone
23	chr7:101397400-101397800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:101397400-101397800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr7:101397400-101397800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr7:101397400-101397800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:101397400-101397800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:101397400-101397800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:101397400-101397800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr7:101397400-101397800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr7:101397400-101397800	Flanking Active TSS	HUVEC	blood vessel
32	chr7:101397400-101397800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:101397400-101398000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:101397400-101398200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:101397400-101398400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:101397400-101398400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:101397400-101398400	Flanking Active TSS	Dnd41	blood
38	chr7:101397400-101398600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:101397400-101398600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:101397400-101398600	Active TSS	Stomach Smooth Muscle	stomach
41	chr7:101397400-101398600	Active TSS	A549	lung
42	chr7:101397400-101398600	Bivalent/Poised TSS	NHDF-Ad	bronchial

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