Variant report

Variant	rs13002771
Chromosome Location	chr2:153391282-153391283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153390268..153392701-chr2:153393879..153395871,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10497107	0.82[JPT][hapmap]
rs10497108	0.82[JPT][hapmap]
rs10497111	0.82[JPT][hapmap]
rs11678890	1.00[JPT][hapmap]
rs16823807	0.82[JPT][hapmap]
rs16831392	0.82[JPT][hapmap]
rs16831399	0.82[JPT][hapmap]
rs16831410	0.82[JPT][hapmap]
rs16831413	0.82[JPT][hapmap]
rs17327752	1.00[JPT][hapmap]
rs17399648	1.00[JPT][hapmap]
rs2577179	0.90[ASN][1000 genomes]
rs2678299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803108	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6434081	1.00[JPT][hapmap]
rs6434082	1.00[JPT][hapmap]
rs6706231	1.00[JPT][hapmap]
rs6749146	1.00[JPT][hapmap]
rs6760321	1.00[JPT][hapmap]
rs7573833	1.00[JPT][hapmap]
rs7599894	0.82[JPT][hapmap]
rs9753431	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:153383000-153392000	Weak transcription	Lung	lung
5	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
6	chr2:153383200-153393200	Weak transcription	NHEK	skin
7	chr2:153383600-153391400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:153384000-153398200	Weak transcription	HMEC	breast
9	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:153386600-153391400	Weak transcription	Brain Angular Gyrus	brain
12	chr2:153386800-153392200	Weak transcription	Fetal Stomach	stomach
13	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:153387000-153392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:153387600-153392800	Weak transcription	Fetal Kidney	kidney
16	chr2:153389000-153398200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:153389800-153396200	Enhancers	Brain Hippocampus Middle	brain
18	chr2:153390400-153391600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:153390400-153396400	Enhancers	Brain Anterior Caudate	brain
20	chr2:153390400-153399000	Enhancers	Brain Substantia Nigra	brain
21	chr2:153390600-153391400	Enhancers	Colon Smooth Muscle	Colon
22	chr2:153390600-153391800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:153390600-153392000	Enhancers	HepG2	liver
24	chr2:153390600-153394400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:153390800-153391800	Active TSS	Psoas Muscle	Psoas
26	chr2:153390800-153392000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:153390800-153392000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:153390800-153392000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:153390800-153392800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:153390800-153393400	Enhancers	Ovary	ovary
31	chr2:153390800-153395000	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:153391000-153391600	Active TSS	NHLF	lung
33	chr2:153391000-153391800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:153391000-153391800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:153391000-153391800	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:153391000-153393000	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:153391200-153391400	Enhancers	Fetal Brain Female	brain
38	chr2:153391200-153391400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:153391200-153391400	Active TSS	HSMMtube	muscle
40	chr2:153391200-153391600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:153391200-153391600	Active TSS	Adipose Nuclei	Adipose
42	chr2:153391200-153391800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:153391200-153391800	Active TSS	Aorta	Aorta
44	chr2:153391200-153391800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:153391200-153391800	Flanking Active TSS	NHDF-Ad	bronchial
46	chr2:153391200-153394200	Enhancers	Fetal Muscle Leg	muscle
47	chr2:153391200-153394400	Enhancers	Brain Inferior Temporal Lobe	brain

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