Variant report

Variant	rs2215790
Chromosome Location	chr7:120653595-120653596
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120651629..120654433-chr7:120773346..120775726,2	K562	blood:
2	chr7:120651881..120654026-chr7:120689747..120692732,2	K562	blood:
3	chr7:120652112..120653722-chr7:120711850..120714681,2	K562	blood:
4	chr7:120651556..120653799-chr7:120654229..120655864,2	K562	blood:

Variant related genes	Relation type
ENSG00000234927	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41698	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73429864	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120647000-120655200	Weak transcription	Right Atrium	heart
3	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
4	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:120647600-120656200	Weak transcription	NHLF	lung
7	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:120648000-120655200	Weak transcription	Ovary	ovary
9	chr7:120648000-120655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:120648000-120656200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:120648000-120656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:120649400-120663600	Weak transcription	Left Ventricle	heart
13	chr7:120651400-120655600	Weak transcription	NHDF-Ad	bronchial
14	chr7:120651800-120656400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:120652000-120653600	Enhancers	Liver	Liver
16	chr7:120652000-120653800	Enhancers	Adipose Nuclei	Adipose
17	chr7:120652200-120653800	Enhancers	Colon Smooth Muscle	Colon
18	chr7:120652400-120653800	Enhancers	HSMMtube	muscle
19	chr7:120652600-120660600	Genic enhancers	K562	blood
20	chr7:120652800-120663800	Weak transcription	Small Intestine	intestine
21	chr7:120653000-120653800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:120653200-120653600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:120653200-120655200	Weak transcription	Aorta	Aorta
24	chr7:120653200-120656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:120653200-120656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:120653200-120657600	Weak transcription	Fetal Lung	lung
27	chr7:120653400-120654600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:120653400-120654800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:120653400-120654800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:120653400-120655200	Weak transcription	HSMM	muscle
31	chr7:120653400-120656400	Weak transcription	Fetal Stomach	stomach
32	chr7:120653400-120656800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:120653400-120663600	Weak transcription	Psoas Muscle	Psoas

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