Variant report

Variant	rs698950
Chromosome Location	chr1:94989579-94989580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10157506	0.82[EUR][1000 genomes]
rs1034363	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1041282	0.83[EUR][1000 genomes]
rs11165149	0.85[EUR][1000 genomes]
rs11576665	0.82[EUR][1000 genomes]
rs11581292	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1158254	0.84[EUR][1000 genomes]
rs11585880	0.81[EUR][1000 genomes]
rs12120731	0.82[EUR][1000 genomes]
rs12127355	0.88[EUR][1000 genomes]
rs12130330	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12131298	0.80[EUR][1000 genomes]
rs12143221	0.83[EUR][1000 genomes]
rs12143512	0.83[EUR][1000 genomes]
rs16946	0.84[EUR][1000 genomes]
rs17410399	0.82[EUR][1000 genomes]
rs1983859	0.82[EUR][1000 genomes]
rs2050648	0.82[EUR][1000 genomes]
rs2147794	0.83[EUR][1000 genomes]
rs2296382	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2794470	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148042	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4148050	0.83[EUR][1000 genomes]
rs4148052	0.83[EUR][1000 genomes]
rs4148056	0.82[EUR][1000 genomes]
rs4148060	0.81[EUR][1000 genomes]
rs4536006	0.81[EUR][1000 genomes]
rs4847303	0.82[EUR][1000 genomes]
rs55801886	0.82[EUR][1000 genomes]
rs56353982	0.83[EUR][1000 genomes]
rs61772847	0.82[EUR][1000 genomes]
rs61772851	0.81[EUR][1000 genomes]
rs61772854	0.83[EUR][1000 genomes]
rs7555399	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs841692	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs841695	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs927728	0.83[EUR][1000 genomes]
rs966176	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
2	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
3	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
5	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
6	chr1:94946400-94993000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:94952800-94993000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:94952800-94993400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:94958400-94992200	Weak transcription	NHDF-Ad	bronchial
11	chr1:94958400-94993200	Weak transcription	NH-A	brain
12	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:94965400-94995800	Weak transcription	HSMM	muscle
14	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
15	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:94966200-94993000	Weak transcription	Hela-S3	cervix
17	chr1:94967200-94993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:94969200-94996200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
20	chr1:94970200-94993000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:94970400-94993200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:94970400-94996000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:94970400-95003800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:94971000-94993000	Weak transcription	Ovary	ovary
25	chr1:94971000-94996600	Weak transcription	Fetal Stomach	stomach
26	chr1:94971000-94999800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:94971400-94995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:94972200-94990200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:94972200-94992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:94972200-94993200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:94972200-95004400	Weak transcription	A549	lung
32	chr1:94972400-94993000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:94972400-94993200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:94972400-94993200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:94972400-94993400	Weak transcription	Adipose Nuclei	Adipose
36	chr1:94972400-94994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:94972400-94994400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:94972400-94995600	Weak transcription	Left Ventricle	heart
39	chr1:94972400-94995800	Weak transcription	NHEK	skin
40	chr1:94979200-95005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:94982200-94990600	Weak transcription	Stomach Mucosa	stomach
42	chr1:94983200-94995200	Weak transcription	Placenta	Placenta
43	chr1:94983400-94996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:94983800-94990800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:94984000-94993000	Weak transcription	HMEC	breast
46	chr1:94984200-94995800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:94984400-94993200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:94984600-94991400	Weak transcription	HepG2	liver
49	chr1:94984800-94995600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:94984800-94995800	Weak transcription	Rectal Mucosa Donor 31	rectum

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