Variant report

Variant	rs11685987
Chromosome Location	chr2:206061927-206061928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10169839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210606	1.00[AMR][1000 genomes]
rs13382936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13384299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13396549	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13398318	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13428878	0.93[AFR][1000 genomes]
rs7577652	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808310	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206041800-206062400	Weak transcription	HSMM	muscle
2	chr2:206046000-206062800	Weak transcription	Gastric	stomach
3	chr2:206047400-206062600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:206049000-206062600	Weak transcription	HSMMtube	muscle
5	chr2:206053200-206062400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:206053200-206062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:206053200-206062800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:206053400-206062200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:206053400-206062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:206053600-206062600	Weak transcription	NHLF	lung
11	chr2:206054200-206062400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:206054200-206062600	Weak transcription	Fetal Brain Female	brain
13	chr2:206054200-206062600	Weak transcription	Right Ventricle	heart
14	chr2:206054200-206062800	Weak transcription	Fetal Stomach	stomach
15	chr2:206055200-206063000	Weak transcription	Fetal Lung	lung
16	chr2:206056600-206062800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:206056600-206064200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:206057600-206062600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:206058600-206062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:206058800-206062200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:206058800-206062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:206058800-206062200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:206058800-206062400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:206058800-206062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:206058800-206062400	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:206058800-206062600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:206058800-206062600	Weak transcription	Left Ventricle	heart
28	chr2:206058800-206062800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:206058800-206062800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:206058800-206081400	Weak transcription	Ovary	ovary
31	chr2:206059200-206062200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:206060200-206062200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:206060400-206062200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:206060400-206064600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:206060600-206062600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:206060600-206063000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:206060600-206064000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:206060800-206062400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:206061000-206062200	Weak transcription	Brain Germinal Matrix	brain
40	chr2:206061200-206062200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:206061400-206062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:206061600-206062000	Weak transcription	NHDF-Ad	bronchial
43	chr2:206061600-206064000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:206061800-206062400	Weak transcription	H1 Cell Line	embryonic stem cell

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