Variant report

Variant	rs1077480
Chromosome Location	chr7:128742858-128742859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128742139..128744810-chr7:128757802..128759404,2	K562	blood:
2	chr7:128742671..128745529-chr7:128752826..128754792,2	K562	blood:

Variant related genes	Relation type
ENSG00000240416	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10249742	1.00[MEX][hapmap]
rs10271693	1.00[MEX][hapmap]

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	esv1829719	chr7:128602992-128810971	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv5947	chr7:128704900-128749885	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128736000-128743200	Weak transcription	Fetal Thymus	thymus
2	chr7:128740000-128744400	Enhancers	Fetal Intestine Small	intestine
3	chr7:128740200-128744000	Enhancers	Pancreas	Pancrea
4	chr7:128740600-128743600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:128741000-128743600	Enhancers	Fetal Muscle Leg	muscle
6	chr7:128741000-128743600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr7:128741200-128743800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr7:128741200-128744200	Enhancers	Fetal Kidney	kidney
9	chr7:128741400-128743400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:128741400-128744000	Enhancers	GM12878-XiMat	blood
11	chr7:128741600-128743000	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:128741600-128744200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:128741600-128744400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:128741800-128744400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:128742000-128743600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:128742000-128743600	Flanking Active TSS	HepG2	liver
17	chr7:128742000-128744200	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:128742200-128744200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:128742400-128743000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:128742400-128743000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr7:128742400-128743400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:128742400-128743600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:128742400-128744400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:128742600-128743000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:128742600-128743000	Enhancers	Ovary	ovary
26	chr7:128742600-128743200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:128742600-128743200	Enhancers	Psoas Muscle	Psoas
28	chr7:128742600-128743200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr7:128742600-128743200	Enhancers	HSMMtube	muscle
30	chr7:128742600-128744200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:128742800-128743000	Enhancers	Fetal Lung	lung
32	chr7:128742800-128743000	Enhancers	A549	lung
33	chr7:128742800-128743200	Flanking Active TSS	Liver	Liver
34	chr7:128742800-128743200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:128742800-128743400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:128742800-128744200	Enhancers	Gastric	stomach
37	chr7:128742800-128744400	Enhancers	Fetal Intestine Large	intestine

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