Variant report

Variant	rs1277272
Chromosome Location	chr4:57909388-57909389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11573107	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1277301	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1277302	1.00[ASN][1000 genomes]
rs1277303	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1277272	HOPX	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57889000-57910200	Weak transcription	Esophagus	oesophagus
2	chr4:57898000-57909800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:57898200-57910000	Weak transcription	Lung	lung
4	chr4:57898800-57917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:57899200-57914600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:57899400-57909800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:57899600-57909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:57899600-57913000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:57899800-57909400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:57904400-57910200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:57904600-57909800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:57904800-57912200	Weak transcription	Brain Angular Gyrus	brain
15	chr4:57904800-57922200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:57906400-57909800	Weak transcription	HMEC	breast
17	chr4:57906600-57911600	Enhancers	Ovary	ovary
18	chr4:57906800-57910400	Strong transcription	NHEK	skin
19	chr4:57906800-57911600	Enhancers	Fetal Muscle Leg	muscle
20	chr4:57907000-57910000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:57907000-57911200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:57907000-57914800	Weak transcription	Fetal Heart	heart
23	chr4:57907200-57909400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:57907200-57909400	Weak transcription	Fetal Kidney	kidney
25	chr4:57907200-57909600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:57907200-57910000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:57907200-57913400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:57907400-57916600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:57907800-57910200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:57907800-57911200	Enhancers	Left Ventricle	heart
31	chr4:57908000-57909800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:57908000-57910400	Enhancers	Fetal Muscle Trunk	muscle
33	chr4:57908000-57911400	Enhancers	Fetal Lung	lung
34	chr4:57908000-57912600	Enhancers	NHDF-Ad	bronchial
35	chr4:57908000-57913000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:57908000-57914200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:57908200-57909400	Enhancers	Adipose Nuclei	Adipose
38	chr4:57908200-57910000	Enhancers	Stomach Smooth Muscle	stomach
39	chr4:57908200-57910200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:57908200-57910400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:57908200-57910600	Enhancers	Right Atrium	heart
42	chr4:57908200-57911000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr4:57908200-57913000	Enhancers	NHLF	lung
44	chr4:57908400-57909400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:57908400-57910000	Weak transcription	Spleen	Spleen
46	chr4:57908400-57913000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:57908400-57913000	Enhancers	Fetal Stomach	stomach
48	chr4:57908600-57911600	Enhancers	HUVEC	blood vessel
49	chr4:57908600-57911600	Enhancers	NH-A	brain
50	chr4:57908800-57909400	Enhancers	HSMMtube	muscle

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