Variant report

Variant	rs7010446
Chromosome Location	chr8:129874453-129874454
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:129872569..129876540-chr8:129878616..129881184,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10094336	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098392	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10100830	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1155582	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11989639	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1372451	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1519849	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1519850	0.94[ASN][1000 genomes]
rs1519851	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1519852	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1850889	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1914998	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2056314	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119756	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2395855	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2395864	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395865	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4568584	0.83[ASN][1000 genomes]
rs4628229	0.94[ASN][1000 genomes]
rs4733532	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733659	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470666	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6470669	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470670	0.94[ASN][1000 genomes]
rs66941142	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6994811	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7010826	0.84[ASN][1000 genomes]
rs7018093	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs756122	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815713	0.86[ASN][1000 genomes]
rs7841974	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9283956	0.83[EUR][1000 genomes]
rs9297778	0.87[EUR][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	nsv517445	chr8:129859924-129881299	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7010446	HHLA1	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129871600-129875400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:129872000-129877000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:129872600-129875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:129872600-129875800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:129872600-129877200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:129872800-129875600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:129872800-129875600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:129873000-129875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:129873000-129875200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:129873000-129875200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:129873000-129875600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:129873000-129876000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:129873000-129876200	Enhancers	Fetal Muscle Leg	muscle
14	chr8:129873200-129874600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:129873200-129874800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:129873200-129874800	Flanking Active TSS	NHDF-Ad	bronchial
17	chr8:129873200-129876400	Enhancers	HSMM	muscle
18	chr8:129873200-129878000	Enhancers	Placenta	Placenta
19	chr8:129873400-129874600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:129873400-129877000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:129873600-129874600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:129873800-129875800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:129873800-129876000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:129874000-129874600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:129874000-129874600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:129874000-129874800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:129874000-129875000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:129874000-129875000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:129874000-129875600	Enhancers	Brain Angular Gyrus	brain
30	chr8:129874000-129876000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:129874000-129876200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:129874000-129876200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:129874200-129874600	Enhancers	Adipose Nuclei	Adipose
34	chr8:129874200-129874800	Flanking Active TSS	Fetal Brain Male	brain
35	chr8:129874200-129874800	Enhancers	Ovary	ovary
36	chr8:129874200-129874800	Enhancers	HMEC	breast
37	chr8:129874200-129875000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:129874200-129875000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:129874200-129876400	Enhancers	Fetal Heart	heart
40	chr8:129874200-129876400	Enhancers	Fetal Stomach	stomach
41	chr8:129874200-129876600	Enhancers	HSMMtube	muscle
42	chr8:129874200-129876800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:129874200-129876800	Enhancers	NHLF	lung
44	chr8:129874400-129874600	Enhancers	Left Ventricle	heart
45	chr8:129874400-129874800	Enhancers	Small Intestine	intestine
46	chr8:129874400-129874800	Enhancers	NHEK	skin
47	chr8:129874400-129875200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:129874400-129875400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:129874400-129875400	Enhancers	HUVEC	blood vessel
50	chr8:129874400-129876000	Enhancers	Fetal Lung	lung

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