Variant report

Variant	rs58967191
Chromosome Location	chr22:30312377-30312378
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	chr22:30305656..30307780-chr22:30310595..30312503,3	MCF-7	breast:
2	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs56727193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56822704	1.00[AMR][1000 genomes]
rs56836109	0.92[AFR][1000 genomes]
rs56978667	1.00[AMR][1000 genomes]
rs57561197	0.82[AFR][1000 genomes]
rs57631440	0.92[AFR][1000 genomes]
rs58198399	0.82[AFR][1000 genomes]
rs58564057	1.00[AMR][1000 genomes]
rs58906954	0.85[AFR][1000 genomes]
rs60017483	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60022678	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093195	1.00[AMR][1000 genomes]
rs60098050	1.00[AMR][1000 genomes]
rs7290116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7291683	1.00[AMR][1000 genomes]
rs73390967	0.82[AFR][1000 genomes]
rs73392870	0.81[AFR][1000 genomes]
rs73392892	0.85[AFR][1000 genomes]
rs73394890	0.86[AFR][1000 genomes]
rs73396803	0.94[AFR][1000 genomes]
rs73396831	1.00[AMR][1000 genomes]
rs73396837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396841	1.00[AMR][1000 genomes]
rs73396843	1.00[AMR][1000 genomes]
rs73396848	1.00[AMR][1000 genomes]
rs73396856	1.00[AMR][1000 genomes]
rs73396863	1.00[AMR][1000 genomes]
rs73396872	1.00[AMR][1000 genomes]
rs73396883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396885	1.00[AMR][1000 genomes]
rs73396886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396896	1.00[AMR][1000 genomes]
rs73396902	1.00[AMR][1000 genomes]
rs73398629	1.00[AMR][1000 genomes]
rs73398630	1.00[AMR][1000 genomes]
rs73398636	0.83[AFR][1000 genomes]
rs73398645	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398647	1.00[AMR][1000 genomes]
rs73398650	1.00[AMR][1000 genomes]
rs73398653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398654	1.00[AMR][1000 genomes]
rs73398659	1.00[AMR][1000 genomes]
rs73398662	1.00[AMR][1000 genomes]
rs73398664	1.00[AMR][1000 genomes]
rs73398671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398683	1.00[AMR][1000 genomes]
rs73398696	1.00[AMR][1000 genomes]
rs73398701	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400604	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400618	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400625	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400627	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400637	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400673	0.81[AFR][1000 genomes]
rs879447	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:91 , 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	chr22:30304200-30312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
5	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:30304800-30312400	Weak transcription	Brain Substantia Nigra	brain
7	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr22:30307000-30314800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
11	chr22:30307800-30314200	Enhancers	Colon Smooth Muscle	Colon
12	chr22:30308000-30314400	Enhancers	NHDF-Ad	bronchial
13	chr22:30308000-30315600	Enhancers	Rectal Smooth Muscle	rectum
14	chr22:30308200-30313400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr22:30308200-30314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:30308400-30312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:30308400-30312800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:30309000-30312400	Enhancers	NHEK	skin
19	chr22:30309000-30312600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:30309200-30313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:30309200-30313200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:30309200-30317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
24	chr22:30309400-30312800	Weak transcription	Brain Angular Gyrus	brain
25	chr22:30309400-30319600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:30310000-30313200	Weak transcription	Left Ventricle	heart
27	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr22:30310200-30312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:30310200-30319400	Weak transcription	Right Atrium	heart
30	chr22:30310200-30321000	Weak transcription	Lung	lung
31	chr22:30310400-30312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:30310400-30312600	Weak transcription	Brain Germinal Matrix	brain
33	chr22:30310400-30313400	Weak transcription	Fetal Muscle Leg	muscle
34	chr22:30310400-30314600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr22:30310600-30312400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr22:30310600-30314400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr22:30310600-30314600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr22:30310600-30314600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:30310800-30312800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:30310800-30321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:30311000-30312400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr22:30311000-30313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
44	chr22:30311200-30313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr22:30311200-30313600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30311400-30312400	Weak transcription	Adipose Nuclei	Adipose
47	chr22:30311400-30312600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:30311400-30312600	Enhancers	Aorta	Aorta
49	chr22:30311400-30312800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:30311400-30313400	Enhancers	Psoas Muscle	Psoas

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