Variant report

Variant	rs7573345
Chromosome Location	chr2:178498625-178498626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178497027..178498648-chr2:178505915..178508252,2	K562	blood:
2	chr2:178497999..178500939-chr2:178626259..178628565,2	K562	blood:
3	chr2:178494059..178496707-chr2:178497248..178499887,2	K562	blood:
4	chr2:178485267..178487759-chr2:178497863..178500182,2	K562	blood:
5	chr2:178482484..178484569-chr2:178497443..178499895,2	K562	blood:
6	chr2:178489030..178493776-chr2:178494411..178499893,10	K562	blood:

Variant related genes	Relation type
ENSG00000197557	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10201367	0.84[EUR][1000 genomes]
rs10201883	0.84[EUR][1000 genomes]
rs10497497	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10497499	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11679730	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11680632	1.00[CHB][hapmap]
rs12618150	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12620285	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13017234	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13017429	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13025391	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13025904	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13026012	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13028757	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1317945	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13431105	1.00[CHB][hapmap]
rs1358326	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1358327	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1446839	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs1527403	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1534305	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1544001	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1918345	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1918346	0.85[EUR][1000 genomes]
rs1918347	0.90[EUR][1000 genomes]
rs1997206	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1997207	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2091442	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2222712	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2365620	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2365621	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2695315	1.00[CHB][hapmap]
rs4110134	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4341975	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4893967	0.87[EUR][1000 genomes]
rs4893970	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs4893973	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4893978	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4893979	0.87[EUR][1000 genomes]
rs5025340	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433685	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433686	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433687	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433688	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6721360	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6723031	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs6723063	1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs6746233	0.91[EUR][1000 genomes]
rs6755382	0.89[EUR][1000 genomes]
rs6756918	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7560080	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560514	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560737	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7577552	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7578901	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7586934	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593744	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593753	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7597640	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs941271	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
2	chr2:178488000-178498800	Weak transcription	Fetal Kidney	kidney
3	chr2:178491400-178498800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:178493200-178498800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:178494200-178499200	Weak transcription	Left Ventricle	heart
6	chr2:178494800-178498800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:178495600-178498800	Weak transcription	Aorta	Aorta
8	chr2:178497200-178499400	Enhancers	Dnd41	blood
9	chr2:178497400-178498800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:178497600-178499000	Enhancers	Brain Germinal Matrix	brain
11	chr2:178497800-178498800	Enhancers	Fetal Brain Male	brain
12	chr2:178497800-178498800	Enhancers	HSMMtube	muscle
13	chr2:178498000-178498800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:178498000-178498800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:178498200-178498800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:178498200-178498800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:178498400-178498800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:178498400-178498800	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:178498400-178498800	Enhancers	NHDF-Ad	bronchial
20	chr2:178498400-178499000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:178498600-178498800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:178498600-178498800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:178498600-178498800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:178498600-178498800	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:178498600-178498800	Enhancers	Fetal Lung	lung
26	chr2:178498600-178498800	Weak transcription	HSMM	muscle
27	chr2:178498600-178498800	Enhancers	HUVEC	blood vessel
28	chr2:178498600-178498800	Active TSS	K562	blood
29	chr2:178498600-178499000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:178498600-178499000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:178498600-178499000	Flanking Active TSS	Fetal Brain Female	brain
32	chr2:178498600-178499000	Flanking Active TSS	GM12878-XiMat	blood
33	chr2:178498600-178499200	Enhancers	Fetal Muscle Leg	muscle
34	chr2:178498600-178499200	Active TSS	A549	lung
35	chr2:178498600-178499600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:178498600-178500000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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