Variant report

Variant	rs6944764
Chromosome Location	chr7:138221895-138221896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10155993	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10215281	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10227693	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10232771	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10247380	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10248731	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030961	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1363053	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1421604	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1544733	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1673205	0.84[EUR][1000 genomes]
rs1813003	0.81[ASN][1000 genomes]
rs3757381	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3807155	0.84[ASN][1000 genomes]
rs3807156	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3816192	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6467775	0.81[ASN][1000 genomes]
rs6467776	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6467778	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6467780	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467782	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467783	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6948094	0.82[ASN][1000 genomes]
rs6954285	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6959574	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs728092	0.81[ASN][1000 genomes]
rs7808392	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs985299	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][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	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138212800-138222600	Weak transcription	Fetal Heart	heart
2	chr7:138213000-138222800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:138213000-138222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:138213000-138223000	Weak transcription	Hela-S3	cervix
5	chr7:138213000-138223200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:138213000-138223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:138213000-138223800	Weak transcription	Stomach Mucosa	stomach
8	chr7:138213000-138224800	Weak transcription	HSMM	muscle
9	chr7:138213000-138225000	Weak transcription	Fetal Brain Male	brain
10	chr7:138213000-138230800	Weak transcription	NHLF	lung
11	chr7:138213000-138234000	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:138213000-138234800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:138213000-138235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:138213000-138235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:138213000-138235800	Weak transcription	Brain Angular Gyrus	brain
16	chr7:138213000-138235800	Weak transcription	Pancreas	Pancrea
17	chr7:138213000-138235800	Weak transcription	NHDF-Ad	bronchial
18	chr7:138213000-138235800	Weak transcription	Osteobl	bone
19	chr7:138213000-138236800	Weak transcription	HSMMtube	muscle
20	chr7:138213000-138238600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:138213000-138239400	Weak transcription	Right Atrium	heart
22	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:138213200-138222400	Weak transcription	Brain Substantia Nigra	brain
24	chr7:138213200-138235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:138213200-138235800	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:138213200-138236000	Weak transcription	Right Ventricle	heart
27	chr7:138213400-138223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:138213400-138225200	Weak transcription	Brain Anterior Caudate	brain
29	chr7:138213600-138223400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:138214400-138222400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:138214400-138223200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:138214400-138224000	Weak transcription	NH-A	brain
33	chr7:138214600-138222400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:138214600-138222400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:138214600-138222800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:138214600-138222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:138214600-138223400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:138214600-138224000	Weak transcription	A549	lung
39	chr7:138214600-138235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:138214600-138235800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:138214600-138235800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:138215000-138223600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:138215600-138222800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:138215800-138222000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:138215800-138222400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:138215800-138222400	Weak transcription	K562	blood
47	chr7:138215800-138222600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:138215800-138222600	Weak transcription	HepG2	liver
49	chr7:138215800-138222800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:138215800-138222800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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