Variant report

Variant	rs10930983
Chromosome Location	chr2:182823230-182823231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182819216..182820732-chr2:182822836..182824943,2	K562	blood:
2	chr2:182754641..182757051-chr2:182822725..182824409,2	MCF-7	breast:
3	chr2:182817609..182820976-chr2:182822757..182826762,5	K562	blood:
4	chr2:182818243..182820551-chr2:182821644..182824450,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150722	Chromatin interaction
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1196182	1.00[AMR][1000 genomes]
rs12104871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12104879	1.00[AMR][1000 genomes]
rs2701674	1.00[AMR][1000 genomes]
rs6715799	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734447	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182819200-182828200	Weak transcription	Right Atrium	heart
2	chr2:182819600-182825800	Weak transcription	Fetal Heart	heart
3	chr2:182819800-182825200	Weak transcription	Fetal Stomach	stomach
4	chr2:182820200-182824200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:182820400-182824000	Weak transcription	NH-A	brain
6	chr2:182820400-182824000	Weak transcription	NHEK	skin
7	chr2:182820400-182824400	Weak transcription	HMEC	breast
8	chr2:182820600-182823400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:182822400-182823400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:182822400-182823400	Enhancers	Small Intestine	intestine
11	chr2:182822400-182823400	Enhancers	Thymus	Thymus
12	chr2:182822400-182824400	Enhancers	Stomach Mucosa	stomach
13	chr2:182822400-182824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:182822400-182825000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:182822400-182825800	Enhancers	NHLF	lung
16	chr2:182822600-182823400	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:182822800-182823400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:182822800-182824000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:182822800-182824800	Enhancers	HUVEC	blood vessel
20	chr2:182823000-182823400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:182823000-182824400	Enhancers	A549	lung
22	chr2:182823000-182824600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:182823000-182824600	Enhancers	NHDF-Ad	bronchial
24	chr2:182823200-182824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:182823200-182824200	Weak transcription	Hela-S3	cervix
26	chr2:182823200-182824400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:182823200-182825200	Weak transcription	Fetal Thymus	thymus

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