Variant report

Variant	rs4144692
Chromosome Location	chr8:122418054-122418055
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	chr8:122415498..122417077-chr8:122417870..122419927,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10094084	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107573	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10481070	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481147	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505401	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956033	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10956035	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956038	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956039	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956040	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11993674	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12545486	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13265234	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13265478	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13267289	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13269889	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13274258	0.85[ASN][1000 genomes]
rs1386442	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1487158	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1487162	0.89[ASN][1000 genomes]
rs1487168	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1487169	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1487170	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1565035	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1843789	0.85[ASN][1000 genomes]
rs1843790	0.85[ASN][1000 genomes]
rs1906216	0.87[ASN][1000 genomes]
rs2046570	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385927	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2386122	0.87[ASN][1000 genomes]
rs2891939	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4282581	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4460379	0.87[ASN][1000 genomes]
rs4871187	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6469998	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470000	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6985415	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988724	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7000174	0.89[ASN][1000 genomes]
rs7004666	0.92[ASN][1000 genomes]
rs7006642	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006650	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7008446	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7008769	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7015873	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017097	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73332335	0.92[ASN][1000 genomes]
rs7824421	0.82[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7824450	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7829217	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832671	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7838314	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7846340	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643156	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs982818	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831445	chr8:122336877-122509300	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2755780	chr8:122393819-122426819	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1027842	chr8:122394235-122427343	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv10312	chr8:122400708-122430090	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1018781	chr8:122403995-122438697	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1029597	chr8:122403995-122440174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2761213	chr8:122404007-122427355	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2421507	chr8:122404007-122429586	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv520758	chr8:122405097-122427672	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	esv3693008	chr8:122405097-122429586	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv465793	chr8:122405097-122452320	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv612132	chr8:122405097-122452320	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv442121	chr8:122405182-122427355	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv515062	chr8:122405435-122422419	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
15	esv1847136	chr8:122411349-122445322	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv891427	chr8:122411349-122472297	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122415600-122420800	Enhancers	NHDF-Ad	bronchial
2	chr8:122416800-122418800	Weak transcription	Stomach Mucosa	stomach
3	chr8:122417000-122420800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:122417200-122420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:122417400-122419600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:122417400-122419600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:122417400-122419600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:122417600-122418400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:122417600-122419000	Enhancers	Osteobl	bone
10	chr8:122417600-122419400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:122417600-122421000	Enhancers	NHLF	lung
12	chr8:122417800-122418400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:122417800-122418400	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:122417800-122418600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:122417800-122418800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:122417800-122418800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:122417800-122419000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:122417800-122419400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:122417800-122419600	Enhancers	HSMM	muscle
20	chr8:122417800-122419600	Enhancers	HSMMtube	muscle
21	chr8:122417800-122420200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:122418000-122418800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:122418000-122419000	Enhancers	Small Intestine	intestine
24	chr8:122418000-122419000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:122418000-122419200	Enhancers	HMEC	breast
26	chr8:122418000-122419600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:122418000-122419600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:122418000-122419600	Enhancers	Fetal Stomach	stomach
29	chr8:122418000-122420000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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