Variant report

Variant	rs11678890
Chromosome Location	chr2:153388673-153388674
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	chr2:153386397..153388731-chr2:153398232..153400541,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10497107	0.82[JPT][hapmap]
rs10497108	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10497111	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13002771	1.00[JPT][hapmap]
rs16823807	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs16831392	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs16831399	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs16831410	0.82[JPT][hapmap]
rs16831413	0.82[JPT][hapmap]
rs17327752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399648	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678299	1.00[JPT][hapmap]
rs35552611	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664591	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434081	1.00[JPT][hapmap]
rs6434082	1.00[JPT][hapmap]
rs6706231	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749146	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760321	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573833	1.00[JPT][hapmap]
rs7575177	0.94[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599894	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9753431	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:34 , 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	chr2:153376000-153388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:153383000-153390800	Weak transcription	Ovary	ovary
7	chr2:153383000-153391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:153383000-153391200	Weak transcription	Aorta	Aorta
9	chr2:153383000-153392000	Weak transcription	Lung	lung
10	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
11	chr2:153383200-153393200	Weak transcription	NHEK	skin
12	chr2:153383600-153391400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:153384000-153398200	Weak transcription	HMEC	breast
14	chr2:153385600-153390600	Weak transcription	HepG2	liver
15	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:153386600-153391400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:153386800-153390600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:153386800-153392200	Weak transcription	Fetal Stomach	stomach
20	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:153387000-153390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:153387000-153390600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:153387000-153391000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:153387000-153392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:153387600-153389000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:153387600-153390800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:153387600-153392800	Weak transcription	Fetal Kidney	kidney
28	chr2:153388000-153390600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:153388000-153390800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:153388200-153389800	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:153388200-153390400	Weak transcription	Brain Substantia Nigra	brain
32	chr2:153388400-153388800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153388400-153389000	Enhancers	NHDF-Ad	bronchial
34	chr2:153388400-153390400	Weak transcription	Brain Anterior Caudate	brain

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