Variant report

Variant	rs13008888
Chromosome Location	chr2:127414593-127414594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127414075..127416361-chr2:127822342..127824026,2	K562	blood:

Variant related genes	Relation type
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10928978	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10928979	0.90[ASN][1000 genomes]
rs12468467	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13395010	0.95[CHB][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs1550407	0.86[ASN][1000 genomes]
rs1813402	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1960696	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2099732	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2099733	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2119151	0.95[ASN][1000 genomes]
rs2119152	0.90[ASN][1000 genomes]
rs2165226	0.90[ASN][1000 genomes]
rs2404961	0.93[ASN][1000 genomes]
rs28387094	0.95[ASN][1000 genomes]
rs28387096	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811541	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6431169	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875002	chr2:127412013-127420211	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875003	chr2:127412495-127419582	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875004	chr2:127412495-127420211	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127412800-127416200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:127413000-127414800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr2:127413000-127416600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:127413000-127416800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:127413000-127417000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:127413200-127414600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:127413200-127414600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr2:127413200-127414800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:127413200-127414800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr2:127413200-127415000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:127413200-127415000	Active TSS	Aorta	Aorta
12	chr2:127413200-127415000	Active TSS	Ovary	ovary
13	chr2:127413200-127415200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr2:127413200-127415200	Active TSS	Brain Substantia Nigra	brain
15	chr2:127413200-127415400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:127413200-127415400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:127413200-127415400	Active TSS	Psoas Muscle	Psoas
18	chr2:127413200-127415800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:127413200-127415800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:127413200-127416000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:127413400-127414600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:127413400-127414600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:127413400-127414600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:127413400-127414600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:127413400-127414600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:127413400-127414600	Active TSS	Adipose Nuclei	Adipose
27	chr2:127413400-127414600	Active TSS	Placenta	Placenta
28	chr2:127413400-127414600	Active TSS	Fetal Stomach	stomach
29	chr2:127413400-127414600	Bivalent/Poised TSS	Dnd41	blood
30	chr2:127413400-127414600	Active TSS	HSMM	muscle
31	chr2:127413400-127414600	Active TSS	K562	blood
32	chr2:127413400-127414600	Active TSS	NHDF-Ad	bronchial
33	chr2:127413400-127414800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:127413400-127414800	Active TSS	Left Ventricle	heart
35	chr2:127413400-127414800	Active TSS	Lung	lung
36	chr2:127413400-127414800	Active TSS	Rectal Smooth Muscle	rectum
37	chr2:127413400-127414800	Active TSS	Right Atrium	heart
38	chr2:127413400-127415000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:127413400-127415000	Active TSS	Brain Angular Gyrus	brain
40	chr2:127413400-127415000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:127413400-127415200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:127413400-127415200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:127413400-127415200	Active TSS	Colon Smooth Muscle	Colon
44	chr2:127413400-127415200	Active TSS	NHLF	lung
45	chr2:127413400-127415400	Active TSS	Brain Anterior Caudate	brain
46	chr2:127413400-127415400	Active TSS	Brain Hippocampus Middle	brain
47	chr2:127413400-127415400	Active TSS	Pancreas	Pancrea
48	chr2:127413400-127415400	Active TSS	Right Ventricle	heart
49	chr2:127413400-127415600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr2:127413400-127416200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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