Variant report

Variant	rs61770089
Chromosome Location	chr1:62172423-62172424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62169034..62173117-chr1:62207020..62209829,3	MCF-7	breast:
2	chr1:62164919..62167340-chr1:62169728..62172685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132849	Chromatin interaction
ENSG00000271200	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1151757	0.80[AFR][1000 genomes]
rs1151759	0.82[AFR][1000 genomes]
rs1151762	0.82[AFR][1000 genomes]
rs1151775	0.84[AFR][1000 genomes]
rs12120264	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1286623	0.80[ASN][1000 genomes]
rs1315521	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1692130	0.80[ASN][1000 genomes]
rs1779267	0.82[AFR][1000 genomes]
rs4915597	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6587945	0.80[ASN][1000 genomes]
rs7517261	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
3	chr1:62140000-62189000	Weak transcription	NHLF	lung
4	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:62147600-62173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:62152400-62175200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:62158600-62189800	Weak transcription	Pancreas	Pancrea
9	chr1:62161200-62180600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:62161800-62179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:62162600-62177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:62163200-62172800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:62163400-62181800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:62163800-62174800	Weak transcription	Hela-S3	cervix
15	chr1:62165000-62175800	Weak transcription	Right Atrium	heart
16	chr1:62165000-62189800	Weak transcription	Aorta	Aorta
17	chr1:62165400-62173800	Weak transcription	Esophagus	oesophagus
18	chr1:62165400-62189400	Weak transcription	Fetal Brain Male	brain
19	chr1:62165400-62189600	Weak transcription	Right Ventricle	heart
20	chr1:62165400-62189800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:62166200-62173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:62166200-62174000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:62166400-62173200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:62166400-62173400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:62166400-62173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:62166400-62173800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:62166400-62173800	Weak transcription	Small Intestine	intestine
28	chr1:62166400-62174600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:62166400-62174600	Weak transcription	Stomach Mucosa	stomach
30	chr1:62166400-62176600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:62166400-62176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:62166400-62189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:62166600-62173200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:62166600-62173600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:62166600-62187400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:62166600-62189400	Weak transcription	A549	lung
37	chr1:62166800-62173800	Weak transcription	Fetal Brain Female	brain
38	chr1:62166800-62173800	Weak transcription	HepG2	liver
39	chr1:62166800-62174000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:62166800-62178000	Weak transcription	Brain Angular Gyrus	brain
41	chr1:62166800-62189400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:62167000-62173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:62167400-62173000	Weak transcription	HSMM	muscle
44	chr1:62167600-62173400	Weak transcription	HUVEC	blood vessel
45	chr1:62167600-62175200	Strong transcription	Fetal Stomach	stomach
46	chr1:62167600-62177200	Weak transcription	Brain Substantia Nigra	brain
47	chr1:62167800-62174000	Weak transcription	Osteobl	bone
48	chr1:62168200-62174600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:62168400-62177600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:62169000-62176000	Strong transcription	Fetal Muscle Trunk	muscle

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