Variant report

Variant	rs10171621
Chromosome Location	chr2:191500449-191500450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191494274..191496899-chr2:191498728..191503014,5	MCF-7	breast:
2	chr2:191499240..191500944-chr2:191544845..191546742,2	MCF-7	breast:
3	chr2:191499903..191503396-chr2:191512260..191515249,5	MCF-7	breast:
4	chr2:191499411..191503491-chr2:191503942..191507702,6	K562	blood:
5	chr2:191496922..191501382-chr2:191511728..191515343,5	MCF-7	breast:
6	chr2:191491691..191493558-chr2:191498958..191500906,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138386	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10191962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201591	1.00[AMR][1000 genomes]
rs10201787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832940	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs60582710	1.00[EUR][1000 genomes]
rs6434403	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043470	1.00[EUR][1000 genomes]
rs73057796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73057800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7579190	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191493000-191501000	Weak transcription	NH-A	brain
2	chr2:191493200-191501200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:191493200-191502800	Weak transcription	Right Ventricle	heart
4	chr2:191493400-191501600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:191493400-191512600	Weak transcription	Psoas Muscle	Psoas
6	chr2:191493600-191501000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:191493600-191501600	Weak transcription	Fetal Stomach	stomach
8	chr2:191494000-191502000	Weak transcription	Right Atrium	heart
9	chr2:191497000-191503200	Enhancers	Stomach Mucosa	stomach
10	chr2:191497800-191500600	Weak transcription	HMEC	breast
11	chr2:191498600-191500600	Weak transcription	Left Ventricle	heart
12	chr2:191499400-191500800	Enhancers	A549	lung
13	chr2:191499600-191500800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:191499600-191500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:191499600-191501200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:191499800-191500800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:191499800-191501000	Weak transcription	NHDF-Ad	bronchial
18	chr2:191499800-191501200	Weak transcription	Fetal Heart	heart
19	chr2:191499800-191501600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:191500000-191501400	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:191500000-191501600	Weak transcription	Brain Substantia Nigra	brain
22	chr2:191500000-191501800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:191500200-191501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:191500200-191502000	Weak transcription	Brain Angular Gyrus	brain

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