Variant report

Variant	rs713916
Chromosome Location	chr22:30593652-30593653
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:
2	chr22:30589990..30596479-chr22:30639909..30648381,15	MCF-7	breast:
3	chr22:30578652..30582637-chr22:30590732..30593754,4	K562	blood:
4	chr22:30593597..30595321-chr22:30600135..30601730,2	K562	blood:
5	chr22:30584790..30588358-chr22:30588911..30595947,7	MCF-7	breast:
6	chr22:30588262..30589901-chr22:30592924..30594635,2	MCF-7	breast:
7	chr22:30592298..30595321-chr22:30600135..30602217,3	K562	blood:

Variant related genes	Relation type
ENSG00000128342	Chromatin interaction
ENSG00000268812	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11552852	0.84[EUR][1000 genomes]
rs13055101	0.82[EUR][1000 genomes]
rs16988244	0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988291	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988303	0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988304	0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988333	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17648208	0.91[EUR][1000 genomes]
rs1807726	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412980	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41278853	0.89[EUR][1000 genomes]
rs41281623	0.86[EUR][1000 genomes]
rs41281633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4482600	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482601	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45629133	0.82[EUR][1000 genomes]
rs4823078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56392746	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56406718	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753038	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753042	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753043	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5763855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763856	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763857	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763870	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763873	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763878	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162368	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6006383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60759987	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6518681	1.00[EUR][1000 genomes]
rs6519802	0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs6519805	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7285585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286205	0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7290175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs737901	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883354	0.80[EUR][1000 genomes]
rs73883355	0.80[EUR][1000 genomes]
rs73883359	0.84[EUR][1000 genomes]
rs73883360	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883363	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883367	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883370	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883374	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883375	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883377	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883378	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141471	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs962322	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30591200-30593800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:30591200-30593800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr22:30591200-30595200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:30591400-30594000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:30591400-30595000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:30591800-30593800	Enhancers	Dnd41	blood
7	chr22:30591800-30594000	Enhancers	Primary T cells from cord blood	blood
8	chr22:30591800-30595000	Enhancers	NHLF	lung
9	chr22:30591800-30597400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:30592000-30593800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:30592200-30595400	Enhancers	Primary B cells from cord blood	blood
13	chr22:30592400-30594400	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:30592600-30593800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:30592600-30593800	Enhancers	Fetal Kidney	kidney
16	chr22:30592600-30593800	Enhancers	Fetal Lung	lung
17	chr22:30592600-30593800	Weak transcription	Pancreas	Pancrea
18	chr22:30592600-30593800	Enhancers	HepG2	liver
19	chr22:30592600-30594000	Enhancers	Fetal Muscle Leg	muscle
20	chr22:30592600-30594400	Enhancers	HSMM	muscle
21	chr22:30592600-30594800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:30592600-30595000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:30592600-30595400	Enhancers	HMEC	breast
24	chr22:30592600-30596200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:30592600-30598200	Weak transcription	Esophagus	oesophagus
26	chr22:30592800-30593800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:30592800-30593800	Enhancers	Osteobl	bone
28	chr22:30592800-30594400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr22:30592800-30594800	Enhancers	NHDF-Ad	bronchial
30	chr22:30592800-30595000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:30592800-30598000	Weak transcription	Gastric	stomach
32	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:30593000-30594800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:30593000-30598000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr22:30593200-30594000	Enhancers	HUVEC	blood vessel
37	chr22:30593200-30594200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30593200-30594400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr22:30593200-30594400	Enhancers	NH-A	brain
40	chr22:30593200-30594600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:30593200-30595200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:30593200-30598000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:30593200-30598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:30593200-30598600	Weak transcription	Lung	lung
45	chr22:30593200-30600600	Weak transcription	Spleen	Spleen
46	chr22:30593400-30593800	Enhancers	NHEK	skin
47	chr22:30593400-30595600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr22:30593400-30597000	Weak transcription	Stomach Mucosa	stomach
49	chr22:30593400-30597800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr22:30593400-30598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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