Variant report

Variant	rs11562822
Chromosome Location	chr8:118970300-118970301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11562671	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11562687	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562703	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562737	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562738	0.92[ASW][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.88[MKK][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11562774	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562775	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562776	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562821	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562823	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17430645	1.00[CEU][hapmap]
rs17430721	1.00[CEU][hapmap]
rs17430755	1.00[CEU][hapmap]
rs17430819	1.00[CEU][hapmap]
rs17430930	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17430965	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431118	0.87[EUR][1000 genomes]
rs17431152	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17431166	1.00[CEU][hapmap]
rs17431208	1.00[CEU][hapmap]
rs17431215	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17431249	1.00[CEU][hapmap]
rs17453105	1.00[CEU][hapmap]
rs17453344	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17453357	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17453448	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453560	1.00[CEU][hapmap]
rs17453567	1.00[CEU][hapmap]
rs17453602	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17453651	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17453672	0.87[EUR][1000 genomes]
rs17475946	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17476226	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17476233	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17476254	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17476296	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17504988	0.87[EUR][1000 genomes]
rs2086008	0.81[EUR][1000 genomes]
rs2086009	0.81[EUR][1000 genomes]
rs28357284	1.00[CEU][hapmap]
rs4480147	0.81[EUR][1000 genomes]
rs57858101	0.87[EUR][1000 genomes]
rs59628055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60822517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61601333	0.87[EUR][1000 genomes]
rs7004615	0.81[EUR][1000 genomes]
rs7843728	1.00[CEU][hapmap]
rs7843780	1.00[CEU][hapmap]
rs7844054	1.00[CEU][hapmap]
rs7844255	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118960600-118971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:118966600-118971400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:118966800-118971400	Weak transcription	Pancreas	Pancrea
4	chr8:118966800-118971800	Weak transcription	Right Ventricle	heart
5	chr8:118967000-118972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118967200-118970600	Enhancers	Fetal Lung	lung
7	chr8:118967200-118971800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:118967400-118971800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:118967600-118971600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:118967800-118970400	Enhancers	Fetal Heart	heart
11	chr8:118968000-118970600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:118968000-118970600	Enhancers	Liver	Liver
13	chr8:118968200-118970600	Weak transcription	Gastric	stomach
14	chr8:118968200-118971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:118968600-118970400	Enhancers	Primary T cells from cord blood	blood
16	chr8:118968600-118970600	Enhancers	Stomach Mucosa	stomach
17	chr8:118968800-118972800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:118969000-118970400	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:118969000-118970400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:118969000-118970400	Enhancers	GM12878-XiMat	blood
21	chr8:118969000-118970600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:118969000-118971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:118969000-118971800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:118969000-118972200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:118969000-118974600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:118969200-118970800	Enhancers	Dnd41	blood
27	chr8:118969200-118971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:118969200-118972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:118969200-118972800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:118969400-118970400	Enhancers	A549	lung
31	chr8:118969400-118970600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:118969400-118970600	Enhancers	Rectal Smooth Muscle	rectum
33	chr8:118969400-118971400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:118969600-118970400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:118969600-118970600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:118969600-118971400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:118969800-118970400	Enhancers	HSMM	muscle
38	chr8:118969800-118970400	Enhancers	HSMMtube	muscle
39	chr8:118969800-118970600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:118969800-118970600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:118969800-118970600	Enhancers	Fetal Kidney	kidney
42	chr8:118969800-118970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:118969800-118971200	Weak transcription	Esophagus	oesophagus
44	chr8:118969800-118971400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:118969800-118971400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:118969800-118971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:118969800-118971400	Flanking Active TSS	NHDF-Ad	bronchial
48	chr8:118969800-118986800	Weak transcription	Lung	lung
49	chr8:118970000-118970400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:118970000-118970400	Enhancers	Rectal Mucosa Donor 31	rectum

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