Variant report

Variant	rs73396872
Chromosome Location	chr22:30314131-30314132
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	chr22:30301235..30303561-chr22:30313115..30315333,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs2051858	0.84[AFR][1000 genomes]
rs2051859	0.84[AFR][1000 genomes]
rs2107672	0.90[AFR][1000 genomes]
rs2107673	0.84[AFR][1000 genomes]
rs2158535	0.84[AFR][1000 genomes]
rs56727193	1.00[AMR][1000 genomes]
rs56822704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56978667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57349783	0.84[AFR][1000 genomes]
rs58564057	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58967191	1.00[AMR][1000 genomes]
rs60017483	1.00[AMR][1000 genomes]
rs60022678	1.00[AMR][1000 genomes]
rs60093195	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60098050	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60573683	0.87[AFR][1000 genomes]
rs60751132	0.81[AFR][1000 genomes]
rs7290116	1.00[AMR][1000 genomes]
rs7291683	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394864	0.85[AFR][1000 genomes]
rs73394865	0.88[AFR][1000 genomes]
rs73394881	0.87[AFR][1000 genomes]
rs73394884	0.87[AFR][1000 genomes]
rs73394885	0.87[AFR][1000 genomes]
rs73394887	0.96[AFR][1000 genomes]
rs73394892	0.82[AFR][1000 genomes]
rs73394897	0.90[AFR][1000 genomes]
rs73396810	0.90[AFR][1000 genomes]
rs73396811	0.90[AFR][1000 genomes]
rs73396818	0.84[AFR][1000 genomes]
rs73396822	0.84[AFR][1000 genomes]
rs73396823	0.84[AFR][1000 genomes]
rs73396826	0.84[AFR][1000 genomes]
rs73396827	0.84[AFR][1000 genomes]
rs73396828	0.84[AFR][1000 genomes]
rs73396830	0.84[AFR][1000 genomes]
rs73396831	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396837	1.00[AMR][1000 genomes]
rs73396841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396843	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396863	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396883	1.00[AMR][1000 genomes]
rs73396885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396886	1.00[AMR][1000 genomes]
rs73396894	1.00[AMR][1000 genomes]
rs73396896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398629	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398630	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398645	1.00[AMR][1000 genomes]
rs73398647	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398650	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398653	1.00[AMR][1000 genomes]
rs73398654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398659	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398671	1.00[AMR][1000 genomes]
rs73398683	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398696	1.00[AMR][1000 genomes]
rs73398701	1.00[AMR][1000 genomes]
rs73400604	1.00[AMR][1000 genomes]
rs73400618	1.00[AMR][1000 genomes]
rs73400625	1.00[AMR][1000 genomes]
rs73400627	1.00[AMR][1000 genomes]
rs73400629	1.00[AMR][1000 genomes]
rs73400637	1.00[AMR][1000 genomes]
rs879447	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:68 , 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	chr22:30308200-30314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:30309200-30317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
14	chr22:30309400-30319600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr22:30310200-30319400	Weak transcription	Right Atrium	heart
17	chr22:30310200-30321000	Weak transcription	Lung	lung
18	chr22:30310400-30314600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr22:30310600-30314400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr22:30310600-30314600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr22:30310600-30314600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:30310800-30321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
24	chr22:30311400-30315400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:30311600-30314400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:30311600-30324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:30311800-30340400	Weak transcription	HSMM	muscle
29	chr22:30312000-30314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:30312000-30315200	Enhancers	Liver	Liver
31	chr22:30312200-30314200	Enhancers	Fetal Lung	lung
32	chr22:30312200-30314400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr22:30312200-30314600	Enhancers	Brain Anterior Caudate	brain
34	chr22:30312200-30314600	Enhancers	A549	lung
35	chr22:30312400-30314600	Enhancers	Adipose Nuclei	Adipose
36	chr22:30312400-30314600	Enhancers	Brain Hippocampus Middle	brain
37	chr22:30312400-30314600	Enhancers	Brain Substantia Nigra	brain
38	chr22:30312400-30316000	Weak transcription	NHEK	skin
39	chr22:30312400-30322800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:30312600-30314200	Enhancers	Brain Cingulate Gyrus	brain
41	chr22:30312600-30314600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr22:30312600-30314800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr22:30312600-30314800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:30312600-30321000	Weak transcription	Right Ventricle	heart
45	chr22:30312600-30326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr22:30312800-30314200	Enhancers	Brain Angular Gyrus	brain
48	chr22:30312800-30314600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:30312800-30314600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr22:30313000-30314600	Enhancers	Primary T helper cells PMA-I stimulated	--

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