Variant report

Variant	rs6975048
Chromosome Location	chr7:38925623-38925624
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11980882	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12670221	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12674115	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17768711	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17768753	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2108507	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34724372	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61363591	0.93[ASN][1000 genomes]
rs6462872	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6956146	0.96[EUR][1000 genomes]
rs73357792	0.88[EUR][1000 genomes]
rs7780490	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7780625	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7800167	0.98[EUR][1000 genomes];0.99[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	nsv887966	chr7:38835035-38933942	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38879800-38938000	Weak transcription	Right Ventricle	heart
2	chr7:38886200-38947800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:38889400-38948200	Weak transcription	Gastric	stomach
4	chr7:38889600-38932600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:38898600-38928800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:38903800-38939600	Weak transcription	A549	lung
7	chr7:38903800-38947000	Weak transcription	Small Intestine	intestine
8	chr7:38905600-38937800	Weak transcription	Colonic Mucosa	Colon
9	chr7:38906000-38947800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:38908000-38941000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:38908200-38932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:38908200-38933800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:38908200-38935000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:38908200-38935400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:38908200-38935400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:38908200-38938600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:38908600-38925800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:38908600-38935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:38908800-38925800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:38908800-38932600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:38908800-38934200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:38908800-38935400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:38908800-38943000	Weak transcription	Esophagus	oesophagus
24	chr7:38908800-38947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:38908800-38948000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:38909000-38933800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:38909000-38934200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:38909000-38947800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:38910200-38929600	Weak transcription	Primary T cells from cord blood	blood
30	chr7:38911800-38948200	Weak transcription	Aorta	Aorta
31	chr7:38912000-38932800	Weak transcription	Spleen	Spleen
32	chr7:38913800-38925800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:38914000-38934200	Weak transcription	Liver	Liver
34	chr7:38914200-38935000	Weak transcription	Dnd41	blood
35	chr7:38916600-38941600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:38916800-38948200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:38917600-38934000	Weak transcription	Ovary	ovary
38	chr7:38918800-38929800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:38918800-38934200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:38918800-38948000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:38919000-38925800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:38919000-38929800	Weak transcription	Primary B cells from cord blood	blood
43	chr7:38919000-38932800	Weak transcription	Left Ventricle	heart
44	chr7:38919400-38942200	Weak transcription	Pancreas	Pancrea
45	chr7:38920200-38929200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:38920200-38934200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:38920400-38940800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:38920600-38935000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:38920600-38935000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:38920600-38935400	Weak transcription	Brain Hippocampus Middle	brain

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