Variant report

Variant	rs737938
Chromosome Location	chr22:30313252-30313253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:
2	chr22:30301235..30303561-chr22:30313115..30315333,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11549795	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.80[EUR][1000 genomes]
rs11552852	0.84[EUR][1000 genomes]
rs1544429	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1544430	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1544431	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1544433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988025	0.82[LWK][hapmap];0.86[MEX][hapmap];0.82[YRI][hapmap]
rs16988120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988143	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988149	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988244	0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988291	0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988303	0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988304	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17648208	0.87[EUR][1000 genomes]
rs1807726	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2105871	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2107674	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2349228	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs249394	0.93[YRI][hapmap]
rs249403	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.80[EUR][1000 genomes]
rs28265	0.89[YRI][hapmap];0.80[EUR][1000 genomes]
rs36571	0.80[EUR][1000 genomes]
rs36575	0.80[EUR][1000 genomes]
rs36577	1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs36579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36589	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36593	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36597	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36599	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36603	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36608	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39713	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41278853	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41281623	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41281633	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45629133	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4820823	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55645000	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332559	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56392746	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56406718	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57348516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5752974	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752977	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752979	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5763560	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763568	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763582	0.89[EUR][1000 genomes]
rs5763595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162368	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997539	0.95[EUR][1000 genomes]
rs6006276	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs60759987	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6519802	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6519805	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7284365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7284951	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286205	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7286441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289803	0.80[EUR][1000 genomes]
rs73392888	0.80[EUR][1000 genomes]
rs73883320	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73883344	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883349	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73883354	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883355	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883359	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883360	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883363	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883367	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883370	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883374	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883375	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73883377	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73883378	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8141471	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8142666	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr22:30307000-30314800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
8	chr22:30307800-30314200	Enhancers	Colon Smooth Muscle	Colon
9	chr22:30308000-30314400	Enhancers	NHDF-Ad	bronchial
10	chr22:30308000-30315600	Enhancers	Rectal Smooth Muscle	rectum
11	chr22:30308200-30313400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr22:30308200-30314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr22:30309200-30317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
15	chr22:30309400-30319600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr22:30310200-30319400	Weak transcription	Right Atrium	heart
18	chr22:30310200-30321000	Weak transcription	Lung	lung
19	chr22:30310400-30313400	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:30310400-30314600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr22:30310600-30314400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr22:30310600-30314600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr22:30310600-30314600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:30310800-30321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
26	chr22:30311200-30313600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:30311400-30313400	Enhancers	Psoas Muscle	Psoas
28	chr22:30311400-30313600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:30311400-30315400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:30311600-30313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:30311600-30313600	Enhancers	Small Intestine	intestine
32	chr22:30311600-30314400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:30311600-30324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:30311800-30313600	Enhancers	Stomach Smooth Muscle	stomach
36	chr22:30311800-30314000	Enhancers	HepG2	liver
37	chr22:30311800-30340400	Weak transcription	HSMM	muscle
38	chr22:30312000-30313400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr22:30312000-30313400	Enhancers	Ovary	ovary
40	chr22:30312000-30313600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr22:30312000-30314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr22:30312000-30315200	Enhancers	Liver	Liver
43	chr22:30312200-30313600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:30312200-30314200	Enhancers	Fetal Lung	lung
45	chr22:30312200-30314400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr22:30312200-30314600	Enhancers	Brain Anterior Caudate	brain
47	chr22:30312200-30314600	Enhancers	A549	lung
48	chr22:30312400-30313600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr22:30312400-30314600	Enhancers	Adipose Nuclei	Adipose
50	chr22:30312400-30314600	Enhancers	Brain Hippocampus Middle	brain

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