Variant report

Variant	rs56047178
Chromosome Location	chr7:102720890-102720891
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	chr7:102720886..102723558-chr7:102788067..102789895,2	K562	blood:
2	chr7:102719977..102722152-chr7:102724525..102727525,3	K562	blood:

Variant related genes	Relation type
ENSG00000170632	Chromatin interaction
ENSG00000161048	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11487077	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14029	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798829	1.00[ASN][1000 genomes]
rs73192058	1.00[ASN][1000 genomes]
rs73714541	1.00[ASN][1000 genomes]
rs7797873	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102716400-102723600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:102716400-102734000	Weak transcription	Esophagus	oesophagus
3	chr7:102716400-102745400	Weak transcription	Spleen	Spleen
4	chr7:102716600-102721400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:102716600-102723600	Weak transcription	Placenta	Placenta
6	chr7:102716600-102724600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:102716600-102725000	Weak transcription	Left Ventricle	heart
8	chr7:102716600-102725000	Weak transcription	Ovary	ovary
9	chr7:102716600-102725400	Weak transcription	Aorta	Aorta
10	chr7:102716600-102735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:102716600-102737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:102716600-102746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:102716600-102746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:102716600-102746800	Weak transcription	Right Atrium	heart
15	chr7:102716600-102760200	Weak transcription	Lung	lung
16	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
17	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
18	chr7:102716800-102723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:102716800-102724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:102716800-102724600	Weak transcription	NHDF-Ad	bronchial
21	chr7:102716800-102725000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:102716800-102726400	Weak transcription	HSMMtube	muscle
23	chr7:102716800-102753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:102716800-102768400	Weak transcription	Stomach Mucosa	stomach
25	chr7:102717000-102722000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:102717000-102722000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:102717000-102722200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:102717000-102722200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:102717000-102722400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:102717000-102722600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:102717000-102722600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:102717000-102723200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:102717000-102723400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:102717000-102723600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:102717000-102723600	Weak transcription	A549	lung
36	chr7:102717000-102724000	Weak transcription	Primary T cells from cord blood	blood
37	chr7:102717000-102724000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:102717000-102724000	Weak transcription	Osteobl	bone
39	chr7:102717000-102724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:102717000-102724200	Weak transcription	Fetal Kidney	kidney
41	chr7:102717000-102724200	Weak transcription	HUVEC	blood vessel
42	chr7:102717000-102724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:102717000-102724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:102717000-102724600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:102717000-102724600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:102717000-102725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:102717000-102725000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:102717000-102725400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:102717000-102727400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:102717000-102729400	Weak transcription	H1 Cell Line	embryonic stem cell

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