Variant report

Variant	rs1088708
Chromosome Location	chr7:120910002-120910003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120903478..120907349-chr7:120909613..120913573,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61031107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs798904	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs798911	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
2	chr7:120886600-120910600	Weak transcription	Fetal Kidney	kidney
3	chr7:120888800-120937800	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:120889600-120913600	Weak transcription	NHDF-Ad	bronchial
5	chr7:120893400-120916600	Strong transcription	K562	blood
6	chr7:120893400-120916800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:120895800-120923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:120897600-120917200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:120900000-120918200	Weak transcription	Osteobl	bone
10	chr7:120903000-120918000	Strong transcription	HSMM	muscle
11	chr7:120904600-120918200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:120904800-120911600	Weak transcription	Spleen	Spleen
13	chr7:120905600-120910200	Strong transcription	Ovary	ovary
14	chr7:120905600-120910200	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:120906000-120912600	Strong transcription	Liver	Liver
16	chr7:120907600-120910200	Strong transcription	Aorta	Aorta
17	chr7:120908000-120910200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:120908000-120911400	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:120908200-120913600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:120908800-120918200	Weak transcription	HSMMtube	muscle
21	chr7:120909000-120912000	Weak transcription	Left Ventricle	heart
22	chr7:120909000-120913800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:120909000-120916400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:120909000-120919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:120909000-120923600	Weak transcription	Fetal Stomach	stomach
26	chr7:120909000-120923600	Weak transcription	Right Ventricle	heart
27	chr7:120909000-120933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:120909200-120923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:120909600-120913600	Weak transcription	NHLF	lung
30	chr7:120909600-120914000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:120909600-120920600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:120910000-120910200	ZNF genes & repeats	Fetal Lung	lung
33	chr7:120910000-120910200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
34	chr7:120910000-120912200	Weak transcription	Stomach Smooth Muscle	stomach

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