Variant report

Variant	rs13388095
Chromosome Location	chr2:153286715-153286716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10931079	0.84[ASN][1000 genomes]
rs11694392	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11696004	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476186	0.84[ASN][1000 genomes]
rs12693362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16831021	1.00[JPT][hapmap]
rs16831082	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831093	0.89[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831100	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345811	0.82[JPT][hapmap]
rs2345874	1.00[JPT][hapmap];0.83[TSI][hapmap];0.84[ASN][1000 genomes]
rs2345894	0.82[JPT][hapmap]
rs2346203	0.82[JPT][hapmap];0.83[TSI][hapmap]
rs34006820	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35662043	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3811576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4254462	0.82[JPT][hapmap]
rs4664558	0.82[JPT][hapmap]
rs66663920	0.80[ASN][1000 genomes]
rs6746538	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6757782	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6761178	0.84[ASN][1000 genomes]
rs67689907	0.80[ASN][1000 genomes]
rs73012774	0.84[ASN][1000 genomes]
rs73012784	0.84[ASN][1000 genomes]
rs7587450	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7601047	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:153272800-153288200	Weak transcription	Right Atrium	heart
3	chr2:153278200-153287400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:153278400-153289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:153278600-153288000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:153278800-153288200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:153278800-153290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:153279000-153287400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:153279000-153287600	Weak transcription	Adipose Nuclei	Adipose
11	chr2:153279200-153288200	Weak transcription	Left Ventricle	heart
12	chr2:153279400-153288200	Weak transcription	Placenta	Placenta
13	chr2:153279400-153288200	Weak transcription	Lung	lung
14	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:153280400-153287600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:153280600-153287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:153280800-153288400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:153281600-153291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
20	chr2:153283000-153288200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:153283200-153287600	Weak transcription	Fetal Stomach	stomach
22	chr2:153283200-153288200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:153283200-153288200	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:153283200-153288800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:153283400-153288400	Weak transcription	NHLF	lung
26	chr2:153283400-153288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:153283600-153287400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:153283600-153288600	Weak transcription	HSMMtube	muscle
29	chr2:153283600-153288600	Weak transcription	NH-A	brain
30	chr2:153283600-153288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:153283600-153288800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:153283600-153289400	Weak transcription	Pancreas	Pancrea
33	chr2:153283800-153287800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:153283800-153288000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:153283800-153288000	Weak transcription	Osteobl	bone
36	chr2:153284200-153291600	Enhancers	Brain Angular Gyrus	brain
37	chr2:153284800-153287600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:153284800-153287600	Weak transcription	A549	lung
39	chr2:153284800-153287600	Weak transcription	Hela-S3	cervix
40	chr2:153284800-153287800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:153284800-153288000	Weak transcription	HMEC	breast
42	chr2:153285000-153287600	Weak transcription	NHEK	skin
43	chr2:153285000-153288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:153285000-153290800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:153285200-153287000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:153285200-153287800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:153285400-153287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:153285400-153287600	Weak transcription	HepG2	liver
49	chr2:153285400-153289000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:153285600-153290000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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