Variant report

Variant	rs1985703
Chromosome Location	chr1:184541947-184541948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10797979	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911613	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911614	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911618	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12134281	0.96[ASN][1000 genomes]
rs1339573	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1569843	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569844	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572767	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1856562	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1969684	0.81[EUR][1000 genomes]
rs1999996	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4651218	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4651221	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4651224	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6424958	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424959	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424960	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6667692	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6674023	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6674115	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696816	0.87[ASN][1000 genomes]
rs749214	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946547	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184512200-184543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:184514400-184543800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:184520800-184542000	Weak transcription	Ovary	ovary
4	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:184525000-184546000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:184525600-184544000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:184525600-184545600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:184531000-184543800	Weak transcription	Esophagus	oesophagus
9	chr1:184531400-184543200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:184531800-184543800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:184532400-184545800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:184532600-184543600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:184532600-184545600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:184533000-184543800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:184533200-184547400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:184536000-184542200	Weak transcription	Fetal Stomach	stomach
17	chr1:184536000-184543400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:184536000-184545600	Weak transcription	Left Ventricle	heart
19	chr1:184536000-184559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184536000-184559000	Weak transcription	NHEK	skin
21	chr1:184536200-184549200	Weak transcription	NHDF-Ad	bronchial
22	chr1:184536600-184545600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:184536800-184542400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:184536800-184543600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:184536800-184545000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:184536800-184559200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:184537200-184543200	Weak transcription	Psoas Muscle	Psoas
28	chr1:184537200-184543600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:184537200-184545800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:184537200-184559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:184538000-184559400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:184538400-184543800	Weak transcription	Small Intestine	intestine
33	chr1:184538400-184544800	Weak transcription	HSMMtube	muscle
34	chr1:184538400-184558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:184538400-184558000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:184538400-184559000	Weak transcription	Right Atrium	heart
37	chr1:184538600-184549000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:184538800-184548600	Weak transcription	Fetal Intestine Small	intestine
39	chr1:184539000-184545600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:184540600-184542400	Enhancers	Fetal Lung	lung

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