Variant report

Variant	rs5752979
Chromosome Location	chr22:30304334-30304335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
2	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:
3	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
4	chr22:30303958..30305806-chr22:30307869..30310153,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11549795	0.82[EUR][1000 genomes]
rs11552852	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1544429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1544430	0.91[EUR][1000 genomes]
rs1544431	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1544433	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988120	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988143	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988148	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16988149	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988244	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16988291	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16988303	0.89[EUR][1000 genomes]
rs16988304	0.89[EUR][1000 genomes]
rs17648208	0.89[EUR][1000 genomes]
rs1807726	0.89[EUR][1000 genomes]
rs2105871	0.91[EUR][1000 genomes]
rs2107674	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2349228	0.89[EUR][1000 genomes]
rs249394	0.80[EUR][1000 genomes]
rs249403	0.82[EUR][1000 genomes]
rs28265	0.82[EUR][1000 genomes]
rs36571	0.82[EUR][1000 genomes]
rs36575	0.82[EUR][1000 genomes]
rs36577	0.82[EUR][1000 genomes]
rs36579	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36588	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36589	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36592	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36593	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36597	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36599	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36602	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36603	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36608	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs39713	0.95[EUR][1000 genomes]
rs41278853	0.91[EUR][1000 genomes]
rs41281623	0.88[EUR][1000 genomes]
rs41281633	0.89[EUR][1000 genomes]
rs45629133	0.93[EUR][1000 genomes]
rs4820823	0.89[EUR][1000 genomes]
rs55645000	0.98[EUR][1000 genomes]
rs56332559	0.82[EUR][1000 genomes]
rs56392746	0.89[EUR][1000 genomes]
rs56406718	0.89[EUR][1000 genomes]
rs57348516	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5752974	0.93[EUR][1000 genomes]
rs5752977	0.93[EUR][1000 genomes]
rs5763560	0.93[EUR][1000 genomes]
rs5763568	0.93[EUR][1000 genomes]
rs5763582	0.91[EUR][1000 genomes]
rs5763595	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58162368	0.89[EUR][1000 genomes]
rs5997539	0.93[EUR][1000 genomes]
rs6006276	0.93[EUR][1000 genomes]
rs60759987	0.89[EUR][1000 genomes]
rs6519802	0.80[EUR][1000 genomes]
rs6519805	0.89[EUR][1000 genomes]
rs7284365	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7284951	0.98[EUR][1000 genomes]
rs7286205	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7286441	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7287233	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7289803	0.82[EUR][1000 genomes]
rs73392888	0.82[EUR][1000 genomes]
rs737938	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883320	0.82[EUR][1000 genomes]
rs73883344	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883349	0.93[EUR][1000 genomes]
rs73883354	0.91[EUR][1000 genomes]
rs73883355	0.91[EUR][1000 genomes]
rs73883359	0.86[EUR][1000 genomes]
rs73883360	0.89[EUR][1000 genomes]
rs73883363	0.89[EUR][1000 genomes]
rs73883367	0.89[EUR][1000 genomes]
rs73883370	0.89[EUR][1000 genomes]
rs73883374	0.89[EUR][1000 genomes]
rs8141471	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
4	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr22:30299800-30308400	Weak transcription	Lung	lung
10	chr22:30300400-30307000	Weak transcription	Spleen	Spleen
11	chr22:30301400-30308000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr22:30302000-30304400	Enhancers	Right Ventricle	heart
13	chr22:30302200-30308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:30302200-30308400	Weak transcription	Gastric	stomach
15	chr22:30302800-30304600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:30302800-30305200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:30303000-30304400	Enhancers	Psoas Muscle	Psoas
18	chr22:30303000-30304600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr22:30303000-30304600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr22:30303000-30304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:30303000-30304800	Enhancers	Fetal Heart	heart
22	chr22:30303000-30305200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:30303000-30305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:30303200-30304400	Enhancers	Liver	Liver
25	chr22:30303200-30304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:30303200-30304600	Enhancers	Fetal Muscle Leg	muscle
27	chr22:30303200-30304800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:30303200-30304800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr22:30303200-30305200	Enhancers	Ovary	ovary
30	chr22:30303200-30305400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr22:30303400-30304400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:30303400-30304400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr22:30303400-30304400	Enhancers	Brain Hippocampus Middle	brain
34	chr22:30303400-30304400	Enhancers	Rectal Smooth Muscle	rectum
35	chr22:30303400-30304400	Enhancers	NHDF-Ad	bronchial
36	chr22:30303400-30304600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:30303400-30304600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30303400-30304600	Enhancers	Adipose Nuclei	Adipose
39	chr22:30303400-30304600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr22:30303400-30304600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr22:30303400-30304600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr22:30303400-30304600	Enhancers	HepG2	liver
43	chr22:30303400-30304600	Enhancers	HSMMtube	muscle
44	chr22:30303400-30304600	Enhancers	HUVEC	blood vessel
45	chr22:30303400-30304800	Enhancers	Brain Substantia Nigra	brain
46	chr22:30303400-30304800	Enhancers	Fetal Lung	lung
47	chr22:30303400-30304800	Enhancers	HMEC	breast
48	chr22:30303400-30304800	Enhancers	HSMM	muscle
49	chr22:30303400-30305400	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:30303400-30305600	Enhancers	Fetal Intestine Small	intestine

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