Variant report

Variant	rs969517
Chromosome Location	chr2:206059011-206059012
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]
rs10170188	0.92[ASN][1000 genomes]
rs12468546	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469415	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921798	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1921800	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921803	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62172735	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972855	0.92[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206024200-206060400	Weak transcription	Liver	Liver
2	chr2:206025200-206060200	Weak transcription	Pancreas	Pancrea
3	chr2:206039000-206059600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:206041600-206061400	Weak transcription	NHDF-Ad	bronchial
5	chr2:206041800-206062400	Weak transcription	HSMM	muscle
6	chr2:206046000-206062800	Weak transcription	Gastric	stomach
7	chr2:206047400-206062600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:206049000-206062600	Weak transcription	HSMMtube	muscle
9	chr2:206053200-206062400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:206053200-206062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:206053200-206062800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:206053400-206060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:206053400-206062200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:206053400-206062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:206053600-206062600	Weak transcription	NHLF	lung
16	chr2:206054000-206060600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:206054200-206062400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:206054200-206062600	Weak transcription	Fetal Brain Female	brain
19	chr2:206054200-206062600	Weak transcription	Right Ventricle	heart
20	chr2:206054200-206062800	Weak transcription	Fetal Stomach	stomach
21	chr2:206055200-206063000	Weak transcription	Fetal Lung	lung
22	chr2:206056200-206061600	Weak transcription	Lung	lung
23	chr2:206056600-206062800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:206056600-206064200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:206057600-206062600	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:206057800-206059200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:206058600-206060400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:206058600-206062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:206058800-206060400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:206058800-206060600	Weak transcription	Fetal Intestine Small	intestine
31	chr2:206058800-206062200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:206058800-206062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:206058800-206062200	Weak transcription	Adipose Nuclei	Adipose
34	chr2:206058800-206062400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:206058800-206062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:206058800-206062400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:206058800-206062600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:206058800-206062600	Weak transcription	Left Ventricle	heart
39	chr2:206058800-206062800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:206058800-206062800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:206058800-206081400	Weak transcription	Ovary	ovary
42	chr2:206059000-206060600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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