Variant report

Variant	rs62481140
Chromosome Location	chr7:128137495-128137496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10240961	0.83[EUR][1000 genomes]
rs10273146	0.92[EUR][1000 genomes]
rs1048531	0.90[ASN][1000 genomes]
rs11763357	0.85[EUR][1000 genomes]
rs12534956	0.83[EUR][1000 genomes]
rs12535956	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13247422	0.92[EUR][1000 genomes]
rs17627068	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288554	0.89[ASN][1000 genomes]
rs4500030	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728114	0.93[ASN][1000 genomes]
rs56403867	0.85[EUR][1000 genomes]
rs57185253	0.85[EUR][1000 genomes]
rs59027033	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59665775	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61310483	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62481131	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481159	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62481882	0.80[EUR][1000 genomes]
rs62481884	0.80[EUR][1000 genomes]
rs62483279	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62483283	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62483312	0.85[EUR][1000 genomes]
rs73463119	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv966883	chr7:128107081-128142581	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62481140	RP11-274B21.4	cis	Nerve Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117800-128140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:128117800-128140800	Weak transcription	Psoas Muscle	Psoas
3	chr7:128117800-128141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:128117800-128142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
6	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:128118000-128137800	Weak transcription	Fetal Kidney	kidney
8	chr7:128118000-128139800	Weak transcription	HSMM	muscle
9	chr7:128118000-128141000	Weak transcription	Colonic Mucosa	Colon
10	chr7:128118000-128141800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:128118000-128146400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:128118000-128146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:128118200-128146400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:128118400-128147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:128119200-128141400	Weak transcription	HUVEC	blood vessel
16	chr7:128119600-128142000	Weak transcription	Fetal Brain Male	brain
17	chr7:128120000-128139200	Weak transcription	GM12878-XiMat	blood
18	chr7:128121400-128147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:128121800-128143800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:128122000-128155400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:128122400-128156800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:128125400-128141600	Weak transcription	Hela-S3	cervix
23	chr7:128128800-128139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:128128800-128142800	Strong transcription	Fetal Intestine Small	intestine
25	chr7:128128800-128143400	Weak transcription	HepG2	liver
26	chr7:128129000-128139400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:128132000-128142200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:128132000-128145000	Strong transcription	Fetal Stomach	stomach
29	chr7:128132800-128143000	Strong transcription	Placenta	Placenta
30	chr7:128132800-128143800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:128133000-128138400	Strong transcription	Liver	Liver
32	chr7:128133000-128143600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:128133400-128138000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:128133400-128138200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:128133400-128138400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr7:128133400-128138400	Strong transcription	Left Ventricle	heart
37	chr7:128133400-128138400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:128133400-128141600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:128133400-128142200	Strong transcription	Lung	lung
40	chr7:128133400-128142400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:128133400-128142600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:128133400-128142600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:128133400-128142600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:128133400-128142800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr7:128133400-128142800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:128133400-128144000	Strong transcription	Adipose Nuclei	Adipose
47	chr7:128133600-128138000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:128133600-128138000	Strong transcription	Brain Germinal Matrix	brain
49	chr7:128133600-128138400	Strong transcription	Fetal Intestine Large	intestine
50	chr7:128133600-128142200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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