Variant report

Variant	rs56295031
Chromosome Location	chr7:102028627-102028628
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102027014..102029004-chr7:102035023..102036805,2	MCF-7	breast:
2	chr7:101918155..101921057-chr7:102028021..102030114,2	MCF-7	breast:
3	chr7:102022926..102025326-chr7:102026245..102029243,2	K562	blood:

Variant related genes	Relation type
ENSG00000239486	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10225683	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10226565	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10233236	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10233461	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10235407	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10237343	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10239657	0.92[EUR][1000 genomes]
rs10243209	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10246324	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10249217	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10249222	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10249581	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10255036	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10268289	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10268970	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10276094	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10277996	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10278274	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11982980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11983129	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135197	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1983476	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1997164	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2103229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2410990	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2411005	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28427402	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28539797	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28879187	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6465859	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6947435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6951185	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6953087	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6958795	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6968325	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6970496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974177	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7384178	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7385200	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7787493	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56295031	ORAI2	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102005000-102036200	Weak transcription	Aorta	Aorta
2	chr7:102005000-102036200	Weak transcription	Small Intestine	intestine
3	chr7:102005200-102036000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:102005200-102036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:102005400-102036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:102005400-102036200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:102005400-102036200	Weak transcription	Psoas Muscle	Psoas
8	chr7:102012800-102031200	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:102012800-102034600	Strong transcription	Fetal Stomach	stomach
10	chr7:102013600-102035800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:102015800-102036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:102016800-102029200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:102017200-102031000	Strong transcription	Fetal Intestine Small	intestine
14	chr7:102017200-102031200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:102017400-102036200	Weak transcription	Right Atrium	heart
16	chr7:102018400-102035800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:102018800-102031000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:102018800-102031000	Weak transcription	NHEK	skin
19	chr7:102018800-102031200	Weak transcription	Pancreas	Pancrea
20	chr7:102018800-102032800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:102018800-102036000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:102018800-102036000	Weak transcription	Colonic Mucosa	Colon
23	chr7:102018800-102036200	Weak transcription	Esophagus	oesophagus
24	chr7:102019000-102036200	Weak transcription	Gastric	stomach
25	chr7:102020200-102029200	Strong transcription	K562	blood
26	chr7:102020600-102035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:102021000-102031200	Weak transcription	Lung	lung
28	chr7:102021000-102035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:102021000-102035800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:102021000-102036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:102021200-102032200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:102021600-102032400	Weak transcription	Brain Germinal Matrix	brain
33	chr7:102021600-102036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:102021800-102032400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:102022200-102031200	Weak transcription	HepG2	liver
36	chr7:102022400-102032400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:102022400-102032400	Weak transcription	Brain Anterior Caudate	brain
38	chr7:102022400-102035800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:102022400-102035800	Weak transcription	HUVEC	blood vessel
40	chr7:102022400-102036000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:102022400-102036000	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:102022400-102036000	Weak transcription	NHDF-Ad	bronchial
43	chr7:102022600-102032400	Weak transcription	NH-A	brain
44	chr7:102022600-102035800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:102022600-102036000	Weak transcription	Fetal Brain Male	brain
46	chr7:102022800-102031000	Weak transcription	Thymus	Thymus
47	chr7:102023000-102036000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:102024000-102029200	Strong transcription	Dnd41	blood
49	chr7:102024400-102035800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:102024400-102036000	Weak transcription	Fetal Kidney	kidney

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