Variant report

Variant	rs10169250
Chromosome Location	chr2:182655798-182655799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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	chr2:182655375..182656915-chr2:182750868..182752797,2	MCF-7	breast:
4	chr2:182653817..182655921-chr2:182755914..182757576,2	K562	blood:
5	chr2:182655124..182657474-chr2:182657876..182660662,2	K562	blood:
6	chr2:182653727..182657745-chr2:182674412..182677081,4	MCF-7	breast:
7	chr2:182646086..182659083-chr2:182754079..182762654,36	MCF-7	breast:
8	chr2:182649909..182651915-chr2:182653150..182656385,3	MCF-7	breast:
9	chr2:182655212..182656838-chr2:182740097..182741979,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11884484	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs11885643	1.00[EUR][1000 genomes]
rs11903205	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs13384259	1.00[EUR][1000 genomes]
rs13395564	1.00[EUR][1000 genomes]
rs6433942	1.00[EUR][1000 genomes]
rs6741761	1.00[EUR][1000 genomes]
rs6757190	1.00[EUR][1000 genomes]
rs73030984	0.93[AFR][1000 genomes]
rs7582121	1.00[EUR][1000 genomes]
rs964700	1.00[EUR][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

No data

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

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	chr2:182650200-182657000	Enhancers	Fetal Intestine Large	intestine
8	chr2:182651000-182655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:182651200-182656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:182651200-182657000	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:182651200-182657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:182652200-182657400	Enhancers	HUVEC	blood vessel
13	chr2:182652400-182657200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:182653400-182656000	Enhancers	Osteobl	bone
15	chr2:182653400-182657400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:182653600-182656400	Enhancers	Liver	Liver
17	chr2:182653600-182657200	Enhancers	NH-A	brain
18	chr2:182653600-182657200	Enhancers	NHDF-Ad	bronchial
19	chr2:182653600-182657200	Enhancers	NHLF	lung
20	chr2:182653600-182657400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:182653800-182656800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:182654200-182657200	Enhancers	Stomach Mucosa	stomach
23	chr2:182654400-182655800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:182654400-182656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:182654600-182656400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:182654600-182657000	Enhancers	Fetal Thymus	thymus
27	chr2:182654800-182656000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:182654800-182656000	Enhancers	Pancreas	Pancrea
29	chr2:182654800-182656200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:182654800-182656400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:182654800-182656400	Enhancers	Primary T cells from cord blood	blood
32	chr2:182654800-182656400	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:182654800-182656400	Enhancers	Thymus	Thymus
34	chr2:182654800-182656400	Enhancers	K562	blood
35	chr2:182654800-182656800	Flanking Active TSS	A549	lung
36	chr2:182654800-182657000	Enhancers	Fetal Intestine Small	intestine
37	chr2:182654800-182657200	Enhancers	HSMM	muscle
38	chr2:182655000-182656000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:182655000-182656400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:182655200-182656000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:182655400-182655800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:182655400-182656000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:182655400-182656000	Enhancers	Placenta	Placenta
44	chr2:182655400-182656000	Flanking Active TSS	NHEK	skin
45	chr2:182655400-182656200	Flanking Active TSS	Dnd41	blood
46	chr2:182655400-182656400	Flanking Active TSS	HepG2	liver
47	chr2:182655600-182655800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:182655600-182656000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:182655600-182656400	Enhancers	Fetal Kidney	kidney
50	chr2:182655600-182656600	Enhancers	HSMMtube	muscle

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