Variant report

Variant	rs10230185
Chromosome Location	chr7:120751399-120751400
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
2	chr7:120750275..120752757-chr7:120754885..120757852,3	K562	blood:
3	chr7:120590369..120591908-chr7:120749449..120751566,2	K562	blood:
4	chr7:120748117..120751439-chr7:120760191..120762453,3	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10225539	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10226602	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10229198	1.00[CEU][hapmap]
rs10230310	1.00[CEU][hapmap]
rs10232353	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10235191	0.91[EUR][1000 genomes]
rs10244109	1.00[CEU][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10251982	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10252157	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10259598	1.00[CEU][hapmap]
rs10260002	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10260631	1.00[CEU][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10264879	0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10274123	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10274324	1.00[CEU][hapmap]
rs10277559	0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279122	1.00[CEU][hapmap]
rs13438127	1.00[CEU][hapmap]
rs2691032	1.00[CEU][hapmap]
rs28476487	0.83[EUR][1000 genomes]
rs28477952	0.82[EUR][1000 genomes]
rs28532880	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28624478	0.83[EUR][1000 genomes]
rs28695392	0.91[EUR][1000 genomes]
rs59353128	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60326700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61327650	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6951173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6965592	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs6971452	0.83[EUR][1000 genomes]
rs73433957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7790700	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7808138	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[YRI][hapmap]
rs798913	1.00[CEU][hapmap]
rs798915	1.00[CEU][hapmap]
rs798917	1.00[CEU][hapmap]
rs798918	1.00[CEU][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv523626	chr7:120738269-120763212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv528485	chr7:120746209-120763212	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
3	chr7:120727800-120756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:120735400-120784000	Weak transcription	Right Ventricle	heart
5	chr7:120740400-120753000	Weak transcription	Osteobl	bone
6	chr7:120740600-120758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:120740800-120786000	Weak transcription	Fetal Lung	lung
8	chr7:120741400-120782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:120741800-120765600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
11	chr7:120742800-120752000	Weak transcription	Aorta	Aorta
12	chr7:120742800-120765000	Weak transcription	NHDF-Ad	bronchial
13	chr7:120742800-120771800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:120743000-120765400	Weak transcription	Left Ventricle	heart
15	chr7:120743000-120784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:120743400-120778200	Strong transcription	K562	blood
17	chr7:120743600-120752800	Weak transcription	HMEC	breast
18	chr7:120743800-120753200	Weak transcription	HSMMtube	muscle
19	chr7:120743800-120765600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:120746200-120768000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:120746200-120777800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:120747400-120752000	Weak transcription	Liver	Liver
23	chr7:120748200-120752600	Weak transcription	Adipose Nuclei	Adipose
24	chr7:120748800-120755000	Strong transcription	HSMM	muscle
25	chr7:120749600-120752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:120750200-120753200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:120750600-120753400	Strong transcription	Ovary	ovary
28	chr7:120751200-120756000	Weak transcription	NHLF	lung

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