Variant report

Variant	rs12071648
Chromosome Location	chr1:85808691-85808692
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	chr1:85808320..85810414-chr1:86046436..86048176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489509	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10489512	1.00[AMR][1000 genomes]
rs10873699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161596	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11799987	1.00[AMR][1000 genomes]
rs11802126	1.00[AMR][1000 genomes]
rs11805144	1.00[AMR][1000 genomes]
rs11805470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806483	1.00[AMR][1000 genomes]
rs11809053	1.00[AMR][1000 genomes]
rs11811186	1.00[AMR][1000 genomes]
rs12059670	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082194	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126791	1.00[AMR][1000 genomes]
rs182845	1.00[AMR][1000 genomes]
rs20862	1.00[AMR][1000 genomes]
rs233063	1.00[AMR][1000 genomes]
rs233064	1.00[AMR][1000 genomes]
rs233122	1.00[AMR][1000 genomes]
rs233126	1.00[AMR][1000 genomes]
rs233129	1.00[AMR][1000 genomes]
rs2474121	1.00[AMR][1000 genomes]
rs41438644	1.00[AMR][1000 genomes]
rs4399206	1.00[AMR][1000 genomes]
rs57053091	1.00[AMR][1000 genomes]
rs57527592	1.00[AMR][1000 genomes]
rs57769466	1.00[AMR][1000 genomes]
rs60176254	1.00[AMR][1000 genomes]
rs60202981	1.00[AMR][1000 genomes]
rs61473029	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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85796600-85809400	Weak transcription	Stomach Mucosa	stomach
2	chr1:85796800-85809600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:85799000-85813600	Weak transcription	Fetal Intestine Large	intestine
6	chr1:85800400-85808800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:85804800-85811000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:85805200-85809000	Weak transcription	Fetal Heart	heart
10	chr1:85805800-85811400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:85806000-85810400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:85806400-85808800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
14	chr1:85806600-85813600	Weak transcription	Left Ventricle	heart
15	chr1:85806600-85814200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:85806800-85809000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:85806800-85810200	Weak transcription	Lung	lung
18	chr1:85807000-85808800	Weak transcription	A549	lung
19	chr1:85807000-85809000	Weak transcription	HepG2	liver
20	chr1:85807200-85809000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:85807400-85809400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:85807400-85811000	Enhancers	NH-A	brain
23	chr1:85807600-85808800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:85807600-85809200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:85807600-85809600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:85807600-85810000	Enhancers	HSMMtube	muscle
27	chr1:85807600-85810200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:85807600-85810600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:85807600-85810600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:85807600-85811000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:85807600-85811200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:85807600-85812200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:85807600-85813400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:85807800-85809600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:85807800-85810000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:85807800-85810200	Enhancers	NHLF	lung
37	chr1:85807800-85810600	Enhancers	HMEC	breast
38	chr1:85807800-85811000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:85807800-85811600	Enhancers	Osteobl	bone
40	chr1:85808000-85809800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:85808000-85809800	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:85808000-85810400	Enhancers	NHDF-Ad	bronchial
43	chr1:85808000-85810600	Enhancers	NHEK	skin
44	chr1:85808200-85809200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:85808200-85810400	Enhancers	Hela-S3	cervix
46	chr1:85808200-85810600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:85808200-85811200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:85808200-85815800	Weak transcription	Aorta	Aorta
49	chr1:85808400-85809000	Enhancers	Ovary	ovary
50	chr1:85808400-85809200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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