Variant report

Variant	rs72936153
Chromosome Location	chr2:206062901-206062902
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10490300	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1540360	0.85[EUR][1000 genomes]
rs16837099	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57964434	0.85[EUR][1000 genomes]
rs6737756	0.83[EUR][1000 genomes]
rs6752823	0.87[EUR][1000 genomes]
rs72938094	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72938099	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72940308	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72940317	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72940320	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72940321	0.89[EUR][1000 genomes]
rs72940324	0.81[EUR][1000 genomes]
rs72940327	0.81[EUR][1000 genomes]
rs72940337	0.93[EUR][1000 genomes]
rs72940348	0.81[EUR][1000 genomes]
rs72940357	0.83[EUR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875730	chr2:206057649-206093367	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206055200-206063000	Weak transcription	Fetal Lung	lung
2	chr2:206056600-206064200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:206058800-206081400	Weak transcription	Ovary	ovary
4	chr2:206060400-206064600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:206060600-206063000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:206060600-206064000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:206061600-206064000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:206062000-206063400	Enhancers	NHDF-Ad	bronchial
9	chr2:206062000-206064600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:206062200-206063000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:206062200-206063000	Enhancers	Brain Germinal Matrix	brain
12	chr2:206062200-206063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:206062200-206063200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:206062200-206063200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:206062200-206063200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:206062200-206063200	Enhancers	Adipose Nuclei	Adipose
17	chr2:206062200-206063400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:206062200-206064000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:206062400-206063000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:206062400-206063000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:206062400-206063000	Enhancers	Brain Anterior Caudate	brain
22	chr2:206062400-206063000	Enhancers	Fetal Muscle Leg	muscle
23	chr2:206062400-206063200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:206062400-206063200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:206062400-206063200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:206062400-206063200	Enhancers	Primary T cells from cord blood	blood
27	chr2:206062400-206063200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:206062400-206063400	Enhancers	Osteobl	bone
29	chr2:206062600-206063000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr2:206062600-206063000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:206062600-206063000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:206062600-206063000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:206062600-206063000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:206062600-206063000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:206062600-206063000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:206062600-206063000	Enhancers	Brain Hippocampus Middle	brain
37	chr2:206062600-206063000	Enhancers	Colon Smooth Muscle	Colon
38	chr2:206062600-206063000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:206062600-206063000	Enhancers	Right Atrium	heart
40	chr2:206062600-206063200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:206062600-206063200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:206062600-206063200	Enhancers	NHEK	skin
43	chr2:206062600-206063200	Enhancers	NHLF	lung
44	chr2:206062600-206063400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:206062600-206063400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:206062600-206063400	Enhancers	Fetal Kidney	kidney
47	chr2:206062600-206063400	Flanking Active TSS	HUVEC	blood vessel
48	chr2:206062800-206063000	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:206062800-206063000	Enhancers	Fetal Stomach	stomach
50	chr2:206062800-206063000	Enhancers	Gastric	stomach

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