Variant report

Variant	rs6433981
Chromosome Location	chr2:183451998-183451999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183410632..183412807-chr2:183450091..183453006,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10198603	0.86[EUR][1000 genomes]
rs10198921	0.86[EUR][1000 genomes]
rs10201351	0.86[EUR][1000 genomes]
rs10210679	0.86[EUR][1000 genomes]
rs10211212	0.86[EUR][1000 genomes]
rs10460376	0.85[ASN][1000 genomes]
rs10497607	0.81[AMR][1000 genomes]
rs12617446	0.80[ASN][1000 genomes]
rs12693319	0.84[EUR][1000 genomes]
rs1527880	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1527881	0.86[ASN][1000 genomes]
rs1527882	0.82[ASN][1000 genomes]
rs17265482	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17265503	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17356609	0.82[ASN][1000 genomes]
rs1997240	0.85[ASN][1000 genomes]
rs4146244	0.89[ASN][1000 genomes]
rs5022567	0.87[ASN][1000 genomes]
rs56963248	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66915042	0.81[EUR][1000 genomes]
rs7557703	0.87[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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875479	chr2:183442443-183482466	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183449800-183452600	Weak transcription	Fetal Heart	heart
2	chr2:183451000-183452000	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:183451000-183453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:183451000-183453200	Enhancers	HSMMtube	muscle
5	chr2:183451000-183453400	Enhancers	NHDF-Ad	bronchial
6	chr2:183451200-183452200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:183451200-183453000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:183451200-183453000	Enhancers	HSMM	muscle
9	chr2:183451200-183453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:183451400-183452000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:183451400-183452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:183451400-183452400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:183451600-183452200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:183451600-183453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:183451600-183453400	Enhancers	NHLF	lung
16	chr2:183451800-183452000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:183451800-183452000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:183451800-183452200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:183451800-183452400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:183451800-183453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:183451800-183453400	Enhancers	NH-A	brain
22	chr2:183451800-183453400	Enhancers	Osteobl	bone

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