Variant report

Variant	rs10248019
Chromosome Location	chr7:120778831-120778832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120773227..120776221-chr7:120776532..120780949,5	K562	blood:
2	chr7:120774713..120776221-chr7:120777852..120779454,2	K562	blood:
3	chr7:120778509..120781370-chr7:120785067..120788347,3	K562	blood:
4	chr7:120776773..120780025-chr7:120780036..120783879,5	K562	blood:
5	chr7:120778481..120780848-chr7:120786003..120787680,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10228942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268570	1.00[JPT][hapmap]
rs11979342	1.00[ASN][1000 genomes]
rs11981613	1.00[CHB][hapmap]
rs11983939	1.00[ASN][1000 genomes]
rs13221538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13235373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13238167	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17283542	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2160013	1.00[JPT][hapmap]
rs2192289	1.00[JPT][hapmap]
rs2402554	1.00[JPT][hapmap]
rs2402561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2538491	1.00[JPT][hapmap]
rs2721349	1.00[JPT][hapmap]
rs2721375	1.00[JPT][hapmap]
rs28562415	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908572	1.00[JPT][hapmap]
rs34269514	1.00[ASN][1000 genomes]
rs34362455	1.00[ASN][1000 genomes]
rs34385410	1.00[ASN][1000 genomes]
rs34638154	1.00[ASN][1000 genomes]
rs35370706	1.00[ASN][1000 genomes]
rs35682088	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140913	1.00[JPT][hapmap]
rs4144090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4593468	1.00[ASN][1000 genomes]
rs6956851	1.00[JPT][hapmap]
rs6962260	1.00[JPT][hapmap]
rs6976513	1.00[JPT][hapmap]
rs73433974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433997	1.00[ASN][1000 genomes]
rs759157	1.00[JPT][hapmap]
rs798932	1.00[JPT][hapmap]
rs798937	1.00[JPT][hapmap]
rs798938	1.00[JPT][hapmap]
rs798939	1.00[JPT][hapmap]
rs798940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs798942	0.85[ASN][1000 genomes]
rs798944	0.89[ASN][1000 genomes]
rs798945	0.81[ASN][1000 genomes]
rs798947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs798948	0.89[ASN][1000 genomes]
rs798950	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9641653	1.00[JPT][hapmap]
rs9690143	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
17	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:40 , 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	chr7:120735400-120784000	Weak transcription	Right Ventricle	heart
3	chr7:120740800-120786000	Weak transcription	Fetal Lung	lung
4	chr7:120741400-120782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
6	chr7:120743000-120784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:120752200-120792000	Weak transcription	Aorta	Aorta
8	chr7:120755000-120780800	Weak transcription	Fetal Kidney	kidney
9	chr7:120757000-120782200	Weak transcription	Osteobl	bone
10	chr7:120763000-120791600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:120764600-120782000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:120766200-120779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:120767200-120787600	Strong transcription	HSMM	muscle
14	chr7:120767400-120780800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:120768800-120780800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:120771000-120782200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:120772800-120781800	Weak transcription	HSMMtube	muscle
18	chr7:120773400-120783800	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:120776200-120789600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:120776400-120783200	Strong transcription	Left Ventricle	heart
21	chr7:120776600-120780400	Weak transcription	NHLF	lung
22	chr7:120777400-120779000	Flanking Active TSS	Dnd41	blood
23	chr7:120778000-120779000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:120778200-120779000	Strong transcription	Adipose Nuclei	Adipose
25	chr7:120778400-120779000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr7:120778600-120779000	Active TSS	GM12878-XiMat	blood
27	chr7:120778600-120779400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:120778600-120779400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:120778600-120779600	Weak transcription	Ovary	ovary
30	chr7:120778600-120780200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:120778600-120780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:120778600-120781000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:120778600-120782000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:120778600-120782000	Weak transcription	NHDF-Ad	bronchial
35	chr7:120778600-120792000	Weak transcription	Fetal Stomach	stomach
36	chr7:120778600-120794600	Strong transcription	K562	blood
37	chr7:120778800-120779000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr7:120778800-120779200	Enhancers	Primary B cells from cord blood	blood
39	chr7:120778800-120779400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:120778800-120780200	Weak transcription	Liver	Liver

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