Variant report

Variant	rs610119
Chromosome Location	chr1:62908292-62908293
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62899539..62901299-chr1:62907455..62909142,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1168007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168024	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1185619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614636	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs626209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs628385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631982	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
2	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62903600-62914600	Weak transcription	Spleen	Spleen
2	chr1:62904000-62915200	Weak transcription	Lung	lung
3	chr1:62904200-62908400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:62904200-62909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:62904200-62909600	Weak transcription	Aorta	Aorta
6	chr1:62904200-62909600	Weak transcription	Esophagus	oesophagus
7	chr1:62904200-62911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:62904200-62911400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:62904200-62911400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:62904200-62913000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:62904200-62914200	Weak transcription	Colonic Mucosa	Colon
12	chr1:62904200-62914600	Weak transcription	Gastric	stomach
13	chr1:62904200-62915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:62904200-62917800	Weak transcription	Pancreas	Pancrea
15	chr1:62904200-62931400	Weak transcription	HSMMtube	muscle
16	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:62904400-62914600	Weak transcription	Psoas Muscle	Psoas
18	chr1:62904600-62908400	Weak transcription	Right Ventricle	heart
19	chr1:62904600-62911800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:62904600-62913000	Weak transcription	Brain Substantia Nigra	brain
21	chr1:62904600-62916400	Weak transcription	Stomach Mucosa	stomach
22	chr1:62904800-62910400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:62904800-62911000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:62904800-62914600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:62904800-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:62905000-62908400	Weak transcription	Fetal Stomach	stomach
27	chr1:62905200-62915000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:62905400-62912200	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:62905400-62926800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:62905600-62923200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:62905800-62908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:62905800-62908400	Weak transcription	Fetal Intestine Small	intestine
33	chr1:62905800-62910600	Weak transcription	Fetal Brain Male	brain
34	chr1:62905800-62911000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:62905800-62919400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:62906000-62908400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:62906000-62913000	Weak transcription	Fetal Heart	heart
38	chr1:62906000-62922200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:62906000-62923400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:62906000-62925200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:62906200-62921200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:62906200-62923200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:62906200-62923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:62906400-62908600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:62906400-62909000	Strong transcription	Fetal Brain Female	brain
46	chr1:62906400-62911200	Weak transcription	Small Intestine	intestine
47	chr1:62906400-62911400	Weak transcription	Ovary	ovary
48	chr1:62906400-62914600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:62906400-62918800	Strong transcription	K562	blood
50	chr1:62906400-62919000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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