Variant report

Variant	rs12120551
Chromosome Location	chr1:85810903-85810904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85809642..85811064-chr1:85864019..85865015,8	MCF-7	breast:
2	chr1:85809927..85811661-chr1:85958885..85960854,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11161597	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11161599	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11161614	0.81[EUR][1000 genomes]
rs12118950	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12122816	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12123745	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12125900	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12128907	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12129502	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12130145	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12130591	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12131926	0.82[EUR][1000 genomes]
rs12132677	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12133722	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12135333	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12138621	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12138852	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12139958	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12140170	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140272	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140457	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12140935	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12717763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12724823	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12736004	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12743049	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12758237	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12758768	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1498374	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1608536	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17384381	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17388521	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2076699	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300639	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300640	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529751	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34561661	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35193119	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35240561	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35761966	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36110608	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3768223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71652696	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[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	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:85799000-85813600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:85804800-85811000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:85805800-85811400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
8	chr1:85806600-85813600	Weak transcription	Left Ventricle	heart
9	chr1:85806600-85814200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:85807400-85811000	Enhancers	NH-A	brain
11	chr1:85807600-85811000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:85807600-85811200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:85807600-85812200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85807600-85813400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:85807800-85811000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:85807800-85811600	Enhancers	Osteobl	bone
17	chr1:85808200-85811200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:85808200-85815800	Weak transcription	Aorta	Aorta
19	chr1:85808400-85811200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:85808400-85816000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:85808600-85813600	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:85808800-85811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:85809000-85811000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:85809000-85815800	Weak transcription	Ovary	ovary
25	chr1:85809200-85813600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:85809200-85813600	Weak transcription	Psoas Muscle	Psoas
27	chr1:85809200-85814800	Weak transcription	Fetal Stomach	stomach
28	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
29	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:85809600-85811200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
34	chr1:85809800-85811000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:85809800-85814800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:85809800-85815200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:85809800-85819000	Weak transcription	Brain Angular Gyrus	brain
38	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
40	chr1:85810200-85811200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:85810200-85813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:85810200-85813600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:85810200-85813600	Weak transcription	NHLF	lung
44	chr1:85810200-85814600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:85810200-85816800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:85810200-85823600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:85810400-85811200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:85810400-85811200	Genic enhancers	HSMM	muscle
49	chr1:85810400-85811800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:85810400-85812400	Genic enhancers	NHDF-Ad	bronchial

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