Variant report

Variant	rs6755396
Chromosome Location	chr2:100506110-100506111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12712060	0.81[EUR][1000 genomes]
rs1366762	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17023415	1.00[YRI][hapmap]
rs2043006	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7558575	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100483000-100507200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:100498800-100507200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:100499000-100507000	Weak transcription	Left Ventricle	heart
4	chr2:100499000-100507400	Weak transcription	Liver	Liver
5	chr2:100499000-100514000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:100499200-100533400	Weak transcription	Aorta	Aorta
7	chr2:100499400-100507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:100499400-100507000	Weak transcription	Lung	lung
9	chr2:100499400-100507400	Weak transcription	Small Intestine	intestine
10	chr2:100499400-100509000	Weak transcription	Ovary	ovary
11	chr2:100499400-100510400	Weak transcription	Fetal Intestine Small	intestine
12	chr2:100499400-100513800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:100500200-100507000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:100500200-100507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:100500600-100506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:100500600-100507200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:100500600-100507600	Weak transcription	Fetal Kidney	kidney
18	chr2:100500800-100507200	Weak transcription	Brain Germinal Matrix	brain
19	chr2:100501400-100508400	Strong transcription	Primary B cells from cord blood	blood
20	chr2:100501800-100507000	Weak transcription	Right Atrium	heart
21	chr2:100502600-100506400	Weak transcription	Fetal Heart	heart
22	chr2:100503000-100507600	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:100503200-100506600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:100503800-100507200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:100503800-100523200	Weak transcription	Thymus	Thymus
26	chr2:100504200-100508200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:100505200-100506600	Enhancers	Fetal Brain Male	brain
28	chr2:100505600-100507000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:100506000-100514800	Weak transcription	Fetal Brain Female	brain

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