Variant report

Variant	rs10239891
Chromosome Location	chr7:102481471-102481472
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102473443..102475589-chr7:102480022..102482918,2	K562	blood:

Variant related genes	Relation type
ENSG00000252643	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10156027	1.00[AMR][1000 genomes]
rs10225811	1.00[AMR][1000 genomes]
rs10232029	1.00[AMR][1000 genomes]
rs10242506	1.00[AMR][1000 genomes]
rs10248082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253514	1.00[YRI][hapmap]
rs10254234	1.00[AMR][1000 genomes]
rs10255596	1.00[AMR][1000 genomes]
rs10260888	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10261565	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277828	1.00[AMR][1000 genomes]
rs10281578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444303	1.00[AMR][1000 genomes]
rs28722504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58612464	1.00[AMR][1000 genomes]
rs6949710	1.00[AMR][1000 genomes]
rs6970026	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792008	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv608059	chr7:102470455-102504773	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102454200-102484600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:102459800-102481800	Weak transcription	Brain Substantia Nigra	brain
3	chr7:102468000-102484600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:102470000-102490200	Weak transcription	Gastric	stomach
5	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
6	chr7:102470200-102481800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:102470400-102481600	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:102470400-102482800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:102470600-102481800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:102470800-102484400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:102470800-102493200	Weak transcription	Primary T cells from cord blood	blood
12	chr7:102471800-102500000	Weak transcription	Left Ventricle	heart
13	chr7:102472000-102484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:102477400-102482400	Weak transcription	Stomach Mucosa	stomach
15	chr7:102477800-102481800	Weak transcription	Hela-S3	cervix
16	chr7:102477800-102482200	Weak transcription	Psoas Muscle	Psoas
17	chr7:102477800-102500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:102478000-102489200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:102478200-102481800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:102478200-102481800	Weak transcription	Fetal Stomach	stomach
21	chr7:102478200-102500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:102478200-102500000	Weak transcription	Ovary	ovary
23	chr7:102478600-102482000	Weak transcription	NHDF-Ad	bronchial
24	chr7:102478800-102481800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:102478800-102482200	Weak transcription	K562	blood
26	chr7:102478800-102482800	Weak transcription	Fetal Intestine Large	intestine
27	chr7:102478800-102489600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:102478800-102492600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:102480800-102481800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:102480800-102482000	Enhancers	Fetal Muscle Leg	muscle
31	chr7:102480800-102482000	Enhancers	GM12878-XiMat	blood
32	chr7:102480800-102482400	Enhancers	HSMMtube	muscle
33	chr7:102480800-102482600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:102480800-102482600	Enhancers	HSMM	muscle
35	chr7:102480800-102482800	Enhancers	Fetal Lung	lung
36	chr7:102481000-102483000	Enhancers	Brain Germinal Matrix	brain
37	chr7:102481000-102483000	Weak transcription	HepG2	liver
38	chr7:102481400-102481800	Weak transcription	Fetal Brain Male	brain

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