Variant report

Variant	rs12693362
Chromosome Location	chr2:153290492-153290493
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	chr2:153288374..153290772-chr2:153291020..153293093,2	K562	blood:

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[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476186	0.84[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]
rs13388095	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]
rs16831021	1.00[JPT][hapmap]
rs16831082	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831093	0.90[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];0.84[ASN][1000 genomes]
rs2345894	0.82[JPT][hapmap]
rs2346203	0.82[JPT][hapmap]
rs34006820	0.92[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	0.81[CEU][hapmap];0.85[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[JPT][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153278800-153290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:153281600-153291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
6	chr2:153284200-153291600	Enhancers	Brain Angular Gyrus	brain
7	chr2:153285000-153290800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:153285800-153292200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:153286200-153291600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:153286200-153301000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:153286400-153291800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
13	chr2:153287400-153290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:153287400-153291200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:153287400-153291400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:153287400-153291400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:153287600-153291000	Enhancers	Hela-S3	cervix
18	chr2:153287600-153291200	Enhancers	Adipose Nuclei	Adipose
19	chr2:153287600-153291400	Enhancers	Fetal Stomach	stomach
20	chr2:153287600-153291800	Enhancers	HepG2	liver
21	chr2:153287800-153291200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:153287800-153291200	Enhancers	Colon Smooth Muscle	Colon
23	chr2:153288000-153291200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:153288000-153291400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:153288000-153291600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:153288000-153292000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:153288200-153290800	Enhancers	Left Ventricle	heart
28	chr2:153288200-153291800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:153288200-153291800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:153288400-153290600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:153288400-153291400	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:153288600-153292000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:153288800-153291000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:153288800-153291600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:153288800-153291600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:153288800-153291600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:153288800-153291600	Enhancers	Fetal Lung	lung
38	chr2:153288800-153291800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:153288800-153291800	Enhancers	Ovary	ovary
40	chr2:153289200-153290600	Weak transcription	Fetal Kidney	kidney
41	chr2:153289200-153291600	Enhancers	Psoas Muscle	Psoas
42	chr2:153289200-153293600	Weak transcription	Fetal Brain Male	brain
43	chr2:153289200-153293800	Weak transcription	Fetal Brain Female	brain
44	chr2:153289200-153296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:153289200-153301800	Weak transcription	NH-A	brain
46	chr2:153289400-153291000	Weak transcription	Fetal Intestine Small	intestine
47	chr2:153289400-153291600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:153289400-153291600	Enhancers	A549	lung
49	chr2:153289600-153291000	Weak transcription	Placenta	Placenta
50	chr2:153289600-153291000	Weak transcription	Lung	lung

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