Variant report

Variant	rs972855
Chromosome Location	chr2:206048646-206048647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10170188	0.85[ASN][1000 genomes]
rs12468546	0.92[ASN][1000 genomes]
rs12469415	0.92[ASN][1000 genomes]
rs1921800	0.92[ASN][1000 genomes]
rs1921801	0.92[ASN][1000 genomes]
rs62172735	0.92[ASN][1000 genomes]
rs969516	0.92[ASN][1000 genomes]
rs969517	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:206021600-206053000	Weak transcription	Ovary	ovary
3	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
4	chr2:206024200-206060400	Weak transcription	Liver	Liver
5	chr2:206025000-206052000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:206025200-206052600	Weak transcription	Fetal Stomach	stomach
7	chr2:206025200-206060200	Weak transcription	Pancreas	Pancrea
8	chr2:206025800-206058000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:206026000-206058000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:206028600-206052800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:206037600-206057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:206039000-206059600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:206040800-206058000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:206041400-206051800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:206041400-206052400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:206041600-206061400	Weak transcription	NHDF-Ad	bronchial
17	chr2:206041800-206052600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:206041800-206062400	Weak transcription	HSMM	muscle
19	chr2:206042600-206052600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:206046000-206062800	Weak transcription	Gastric	stomach
21	chr2:206046200-206057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:206047400-206062600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:206047800-206049000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:206048000-206053000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:206048200-206049000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr2:206048200-206049000	Strong transcription	HSMMtube	muscle
27	chr2:206048400-206052600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:206048400-206059000	Weak transcription	Aorta	Aorta
29	chr2:206048600-206053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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