Variant report

Variant	rs56772195
Chromosome Location	chr7:150478547-150478548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150477338..150480440-chr7:150482121..150485393,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11980764	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11981656	1.00[EUR][1000 genomes]
rs17173611	1.00[EUR][1000 genomes]
rs35972858	1.00[EUR][1000 genomes]
rs57098462	1.00[EUR][1000 genomes]
rs57209080	1.00[EUR][1000 genomes]
rs57577681	1.00[EUR][1000 genomes]
rs58964961	1.00[EUR][1000 genomes]
rs59138292	1.00[EUR][1000 genomes]
rs60053813	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60570249	1.00[EUR][1000 genomes]
rs61698476	1.00[EUR][1000 genomes]
rs73474810	1.00[EUR][1000 genomes]
rs73474820	1.00[EUR][1000 genomes]
rs73474823	1.00[EUR][1000 genomes]
rs73474832	1.00[EUR][1000 genomes]
rs73474857	1.00[EUR][1000 genomes]
rs73727408	1.00[EUR][1000 genomes]
rs73727410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73727411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9770044	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv522859	chr7:150476888-150486169	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150462800-150480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:150473600-150479000	Weak transcription	Small Intestine	intestine
3	chr7:150475800-150479800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:150476000-150478800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:150476000-150481000	Weak transcription	HepG2	liver
6	chr7:150476000-150481400	Weak transcription	A549	lung
7	chr7:150476200-150478800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:150476200-150479600	Enhancers	Liver	Liver
9	chr7:150476200-150480800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:150476200-150481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:150476200-150481400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:150476200-150485200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:150477200-150478600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:150477200-150479600	Enhancers	Fetal Stomach	stomach
15	chr7:150477400-150478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:150477400-150479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:150477400-150479000	Enhancers	Colon Smooth Muscle	Colon
18	chr7:150477400-150479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:150477400-150479200	Enhancers	Adipose Nuclei	Adipose
20	chr7:150477400-150479200	Enhancers	Colonic Mucosa	Colon
21	chr7:150477400-150479200	Enhancers	Fetal Muscle Leg	muscle
22	chr7:150477400-150479400	Enhancers	NHDF-Ad	bronchial
23	chr7:150477400-150479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:150477600-150478600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:150477600-150485400	Weak transcription	Esophagus	oesophagus
26	chr7:150477800-150479400	Enhancers	Duodenum Mucosa	Duodenum
27	chr7:150478000-150478600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:150478000-150479000	Weak transcription	Placenta	Placenta
29	chr7:150478000-150480800	Weak transcription	Fetal Intestine Small	intestine
30	chr7:150478000-150482200	Weak transcription	Right Atrium	heart
31	chr7:150478200-150478600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:150478200-150481200	Weak transcription	Primary B cells from cord blood	blood
33	chr7:150478400-150481400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:150478400-150484800	Weak transcription	Fetal Kidney	kidney

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