Variant report

Variant	rs1347305
Chromosome Location	chr2:206025263-206025264
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10175054	0.87[ASN][1000 genomes]
rs10932097	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1100394	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11899425	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12465268	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12466813	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13427801	0.97[ASN][1000 genomes]
rs1368942	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1510774	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs16836942	0.85[AMR][1000 genomes]
rs16836950	0.82[AMR][1000 genomes]
rs16836961	0.87[AMR][1000 genomes]
rs16837000	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16837012	0.87[ASN][1000 genomes]
rs16837019	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16837021	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2289023	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35505346	0.90[ASN][1000 genomes]
rs4675501	0.94[ASN][1000 genomes]
rs6435271	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6435272	0.99[ASN][1000 genomes]
rs7560015	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7565979	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs849106	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs849107	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs849110	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs849115	0.93[AMR][1000 genomes]
rs849116	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs849120	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs849121	0.86[ASN][1000 genomes]
rs849124	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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	nsv875729	chr2:205972555-206027314	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
2	chr2:205991000-206036600	Weak transcription	HSMM	muscle
3	chr2:205994600-206025800	Weak transcription	Fetal Kidney	kidney
4	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:206014600-206035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:206020400-206025400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:206021600-206053000	Weak transcription	Ovary	ovary
8	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
9	chr2:206021800-206038000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:206022000-206025800	Weak transcription	Right Ventricle	heart
11	chr2:206022800-206026000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:206022800-206035400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:206023000-206036000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:206023400-206036400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:206023400-206036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:206024200-206025800	Strong transcription	Adipose Nuclei	Adipose
17	chr2:206024200-206060400	Weak transcription	Liver	Liver
18	chr2:206024400-206025800	Strong transcription	Aorta	Aorta
19	chr2:206024600-206027000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:206024600-206027400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:206024800-206028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:206025000-206052000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:206025200-206025600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:206025200-206027600	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:206025200-206052600	Weak transcription	Fetal Stomach	stomach
26	chr2:206025200-206060200	Weak transcription	Pancreas	Pancrea

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