Variant report

Variant	rs9808113
Chromosome Location	chr2:182655042-182655043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182653773..182656641-chr2:182670969..182672673,2	K562	blood:
2	chr2:182647541..182657734-chr2:182753295..182760748,23	MCF-7	breast:
3	chr2:182652862..182655320-chr2:182765271..182767272,2	MCF-7	breast:
4	chr2:182653817..182655921-chr2:182755914..182757576,2	K562	blood:
5	chr2:182653727..182657745-chr2:182674412..182677081,4	MCF-7	breast:
6	chr2:182646086..182659083-chr2:182754079..182762654,36	MCF-7	breast:
7	chr2:182649909..182651915-chr2:182653150..182656385,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10165226	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10165936	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10173114	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176061	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10176757	0.82[EUR][1000 genomes]
rs10179363	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10179547	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10182213	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10199645	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200243	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10210215	0.84[AFR][1000 genomes]
rs1106013	0.94[ASN][1000 genomes]
rs13425734	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1881158	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720702	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730859	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6748354	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7557969	0.84[AFR][1000 genomes]
rs7580410	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs937297	0.94[ASN][1000 genomes]
rs950165	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9807949	0.88[AFR][1000 genomes]
rs9808112	0.88[AFR][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	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9808113	LOC647288///LOC730587	trans	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182642200-182657200	Enhancers	Hela-S3	cervix
2	chr2:182648000-182657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:182648600-182657200	Enhancers	HMEC	breast
4	chr2:182648800-182657000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:182649200-182656200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:182649600-182657200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:182650000-182655400	Enhancers	NHEK	skin
8	chr2:182650200-182657000	Enhancers	Fetal Intestine Large	intestine
9	chr2:182651000-182655600	Weak transcription	HSMMtube	muscle
10	chr2:182651000-182655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:182651200-182656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:182651200-182657000	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:182651200-182657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:182652000-182655400	Weak transcription	Placenta	Placenta
15	chr2:182652200-182657400	Enhancers	HUVEC	blood vessel
16	chr2:182652400-182655600	Weak transcription	Fetal Kidney	kidney
17	chr2:182652400-182657200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:182653400-182656000	Enhancers	Osteobl	bone
19	chr2:182653400-182657400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:182653600-182655600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:182653600-182656400	Enhancers	Liver	Liver
22	chr2:182653600-182657200	Enhancers	NH-A	brain
23	chr2:182653600-182657200	Enhancers	NHDF-Ad	bronchial
24	chr2:182653600-182657200	Enhancers	NHLF	lung
25	chr2:182653600-182657400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:182653800-182656800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:182654200-182657200	Enhancers	Stomach Mucosa	stomach
28	chr2:182654400-182655400	Enhancers	HepG2	liver
29	chr2:182654400-182655800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:182654400-182656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:182654600-182656400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:182654600-182657000	Enhancers	Fetal Thymus	thymus
33	chr2:182654800-182655200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:182654800-182655600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:182654800-182656000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:182654800-182656000	Enhancers	Pancreas	Pancrea
37	chr2:182654800-182656200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:182654800-182656400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:182654800-182656400	Enhancers	Primary T cells from cord blood	blood
40	chr2:182654800-182656400	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:182654800-182656400	Enhancers	Thymus	Thymus
42	chr2:182654800-182656400	Enhancers	K562	blood
43	chr2:182654800-182656800	Flanking Active TSS	A549	lung
44	chr2:182654800-182657000	Enhancers	Fetal Intestine Small	intestine
45	chr2:182654800-182657200	Enhancers	HSMM	muscle
46	chr2:182655000-182655400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:182655000-182655400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:182655000-182655400	Enhancers	Dnd41	blood
49	chr2:182655000-182655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:182655000-182656000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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