Variant report

Variant	rs739428
Chromosome Location	chr22:31636064-31636065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31634328..31637207-chr22:31643035..31644921,2	K562	blood:
2	chr22:31635531..31637522-chr22:31669683..31672388,2	MCF-7	breast:
3	chr22:31635703..31637770-chr22:31648777..31650982,3	MCF-7	breast:
4	chr22:31635408..31638175-chr22:31677816..31680372,2	MCF-7	breast:
5	chr22:31634682..31637817-chr22:31642306..31645689,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1034587	0.82[YRI][hapmap]
rs11089493	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11089495	0.87[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11089496	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1123705	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138706	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556237	0.87[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703005	0.87[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11703576	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11704523	0.87[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12157877	0.87[CEU][hapmap];0.93[YRI][hapmap]
rs16989469	0.88[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985726	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2057951	0.87[CEU][hapmap]
rs2899161	0.81[CEU][hapmap]
rs3091392	0.87[CEU][hapmap]
rs55837074	0.83[EUR][1000 genomes]
rs56292834	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749231	0.82[YRI][hapmap]
rs57523999	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753523	0.85[EUR][1000 genomes]
rs5997917	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997921	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs5997924	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997930	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs5997937	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs5997942	0.93[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997948	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5997959	0.87[CEU][hapmap]
rs695455	0.87[CEU][hapmap]
rs695682	0.88[CEU][hapmap]
rs713619	0.87[CEU][hapmap]
rs7285027	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7285716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286926	0.88[CEU][hapmap]
rs7287715	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs8143159	0.87[CEU][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8595	0.81[CEU][hapmap];1.00[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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:31620200-31637200	Weak transcription	HSMM	muscle
4	chr22:31622200-31636800	Weak transcription	Hela-S3	cervix
5	chr22:31622600-31637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:31625600-31639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:31625800-31637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:31625800-31637000	Weak transcription	HMEC	breast
9	chr22:31625800-31639600	Weak transcription	Esophagus	oesophagus
10	chr22:31626000-31637200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:31626000-31637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:31626600-31639800	Weak transcription	NHDF-Ad	bronchial
13	chr22:31626600-31643800	Weak transcription	Left Ventricle	heart
14	chr22:31626600-31643800	Weak transcription	Spleen	Spleen
15	chr22:31626800-31639600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:31627000-31637000	Weak transcription	NHLF	lung
17	chr22:31627200-31637000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:31627400-31637400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:31627600-31637400	Weak transcription	Pancreas	Pancrea
20	chr22:31627600-31637600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:31627600-31639000	Weak transcription	Fetal Muscle Leg	muscle
22	chr22:31627600-31639600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:31627600-31639800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr22:31627600-31640000	Weak transcription	Fetal Heart	heart
25	chr22:31627600-31640800	Weak transcription	Liver	Liver
26	chr22:31627800-31636800	Weak transcription	Primary T cells from cord blood	blood
27	chr22:31627800-31636800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr22:31627800-31637000	Weak transcription	K562	blood
29	chr22:31627800-31637400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:31627800-31639400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:31627800-31639600	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:31627800-31640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:31627800-31640800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:31627800-31640800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr22:31627800-31643200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:31627800-31643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr22:31627800-31643400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr22:31628000-31637200	Weak transcription	Dnd41	blood
39	chr22:31628000-31643800	Weak transcription	Brain Hippocampus Middle	brain
40	chr22:31629600-31637200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:31629600-31637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:31629800-31636800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:31629800-31637000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr22:31629800-31639200	Weak transcription	Psoas Muscle	Psoas
45	chr22:31629800-31639400	Weak transcription	Fetal Thymus	thymus
46	chr22:31629800-31639600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:31630000-31636800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:31631000-31639600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:31631600-31637400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:31631600-31637400	Weak transcription	Adipose Nuclei	Adipose

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