Variant report

Variant	rs9619322
Chromosome Location	chr22:33383384-33383385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33382445..33385028-chr22:33386160..33388841,3	MCF-7	breast:
2	chr22:33379303..33380936-chr22:33382275..33384664,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1005664	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10222206	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10222253	1.00[CEU][hapmap]
rs11089596	1.00[EUR][1000 genomes]
rs11089597	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11089602	1.00[CEU][hapmap]
rs1119511	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1119512	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12166853	0.99[AFR][1000 genomes]
rs12167310	1.00[CEU][hapmap]
rs12168142	1.00[CEU][hapmap]
rs12329983	1.00[AMR][1000 genomes]
rs12373961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16991580	1.00[CEU][hapmap]
rs16991605	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1894457	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1988647	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56076355	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56095662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5754327	1.00[CEU][hapmap]
rs5998651	1.00[CEU][hapmap]
rs5998653	1.00[CEU][hapmap]
rs5998658	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs695224	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7285055	1.00[CEU][hapmap]
rs7290885	1.00[TSI][hapmap]
rs7364251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7364286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140502	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619320	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619323	1.00[CEU][hapmap]
rs9621566	1.00[CEU][hapmap]
rs9621578	1.00[CEU][hapmap]
rs9621599	0.83[ASW][hapmap];1.00[CEU][hapmap]
rs9621600	1.00[CEU][hapmap]
rs9621606	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs9621607	1.00[EUR][1000 genomes]
rs9621608	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs9621609	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9621610	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621613	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9621614	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621615	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621619	1.00[AMR][1000 genomes]
rs9621622	1.00[CEU][hapmap]
rs9621627	1.00[CEU][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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
2	chr22:33380400-33383600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr22:33380400-33384000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:33380800-33389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:33381000-33383600	Enhancers	Fetal Lung	lung
6	chr22:33381000-33383800	Enhancers	Fetal Stomach	stomach
7	chr22:33381000-33385400	Enhancers	NHEK	skin
8	chr22:33381200-33383800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33381400-33385200	Enhancers	Fetal Muscle Leg	muscle
10	chr22:33381400-33385400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33381600-33383400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr22:33381600-33383600	Enhancers	Fetal Intestine Small	intestine
13	chr22:33381600-33383600	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:33381600-33383800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:33381600-33384000	Enhancers	Placenta	Placenta
16	chr22:33381800-33383400	Enhancers	Fetal Kidney	kidney
17	chr22:33381800-33383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:33381800-33383600	Enhancers	Brain Hippocampus Middle	brain
19	chr22:33381800-33383600	Enhancers	Fetal Brain Male	brain
20	chr22:33381800-33383600	Enhancers	Hela-S3	cervix
21	chr22:33381800-33383800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:33381800-33383800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:33381800-33383800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr22:33381800-33383800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr22:33381800-33383800	Enhancers	Brain Germinal Matrix	brain
26	chr22:33381800-33383800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr22:33381800-33384000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:33381800-33385000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr22:33381800-33386600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:33381800-33389200	Enhancers	HMEC	breast
31	chr22:33382000-33383400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr22:33382000-33383600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:33382000-33383600	Enhancers	HSMM	muscle
34	chr22:33382000-33383800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr22:33382000-33383800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:33382000-33383800	Enhancers	HSMMtube	muscle
37	chr22:33382000-33384000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr22:33382000-33390200	Weak transcription	Right Atrium	heart
39	chr22:33382200-33383600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr22:33382200-33383800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr22:33382200-33384000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:33382200-33384000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr22:33382400-33383400	Weak transcription	Left Ventricle	heart
44	chr22:33382400-33383600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:33382400-33383600	Enhancers	Brain Anterior Caudate	brain
46	chr22:33382400-33383800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr22:33382400-33383800	Enhancers	Brain Cingulate Gyrus	brain
48	chr22:33382400-33384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:33382400-33384800	Weak transcription	Esophagus	oesophagus
50	chr22:33382400-33387600	Weak transcription	NHDF-Ad	bronchial

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