Variant report

Variant	rs10168631
Chromosome Location	chr2:205529154-205529155
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	chr2:205528626..205531544-chr2:205538166..205540869,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10174665	1.00[EUR][1000 genomes]
rs10179131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10180863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190242	1.00[EUR][1000 genomes]
rs10199785	1.00[AMR][1000 genomes]
rs10199977	1.00[AMR][1000 genomes]
rs10207338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12328281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13393921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410864	1.00[AMR][1000 genomes]
rs13412778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13413975	1.00[AMR][1000 genomes]
rs13417497	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17595379	1.00[EUR][1000 genomes]
rs28538804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28751884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34575634	1.00[EUR][1000 genomes]
rs60899945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059099	1.00[EUR][1000 genomes]
rs7591676	1.00[EUR][1000 genomes]
rs9653255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9973966	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205507400-205530000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:205517200-205530000	Weak transcription	Ovary	ovary
3	chr2:205519400-205529400	Weak transcription	Fetal Heart	heart
4	chr2:205520000-205529200	Weak transcription	Fetal Lung	lung
5	chr2:205520200-205529200	Weak transcription	Esophagus	oesophagus
6	chr2:205520800-205542800	Weak transcription	Psoas Muscle	Psoas
7	chr2:205521000-205546200	Weak transcription	Aorta	Aorta
8	chr2:205522200-205530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:205527800-205529600	Enhancers	NHDF-Ad	bronchial
10	chr2:205527800-205531400	Enhancers	HSMM	muscle
11	chr2:205527800-205531800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:205527800-205533200	Enhancers	HSMMtube	muscle
13	chr2:205528000-205530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:205528000-205546200	Weak transcription	Pancreas	Pancrea
15	chr2:205528200-205530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:205528400-205532800	Weak transcription	Gastric	stomach
17	chr2:205528600-205529400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:205528600-205529400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:205528600-205529800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:205528600-205531000	Enhancers	NHLF	lung
21	chr2:205528600-205531200	Enhancers	Colon Smooth Muscle	Colon
22	chr2:205528800-205529600	Enhancers	NHEK	skin
23	chr2:205528800-205530400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:205528800-205530600	Flanking Active TSS	A549	lung
25	chr2:205528800-205530800	Enhancers	Hela-S3	cervix
26	chr2:205528800-205531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:205528800-205531000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:205529000-205529200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:205529000-205529200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:205529000-205529600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:205529000-205530400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:205529000-205530400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:205529000-205530400	Enhancers	Adipose Nuclei	Adipose
34	chr2:205529000-205530600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:205529000-205530800	Enhancers	HUVEC	blood vessel
36	chr2:205529000-205531000	Enhancers	Osteobl	bone
37	chr2:205529000-205531400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:205529000-205531400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:205529000-205534400	Weak transcription	Stomach Mucosa	stomach

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