Variant report

Variant	rs12122154
Chromosome Location	chr1:85775865-85775866
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	chr1:85775211..85778145-chr1:85779507..85781328,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10873700	0.88[EUR][1000 genomes]
rs11161595	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161604	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11590830	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12033483	1.00[YRI][hapmap]
rs12116463	0.88[EUR][1000 genomes]
rs12123722	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12126355	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12136295	0.94[EUR][1000 genomes]
rs1391556	1.00[YRI][hapmap]
rs1523998	0.89[JPT][hapmap]
rs17127201	0.82[EUR][1000 genomes]
rs17127231	0.82[EUR][1000 genomes]
rs17127399	0.82[EUR][1000 genomes]
rs17384213	1.00[YRI][hapmap]
rs2124139	1.00[YRI][hapmap]
rs2235990	0.94[EUR][1000 genomes]
rs2284798	0.97[EUR][1000 genomes]
rs7553530	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85772800-85779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85774000-85779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:85774400-85777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:85774400-85778000	Weak transcription	HMEC	breast
5	chr1:85774400-85779400	Weak transcription	Aorta	Aorta
6	chr1:85774600-85776600	Enhancers	HUVEC	blood vessel
7	chr1:85774600-85777400	Weak transcription	HSMMtube	muscle
8	chr1:85774600-85777400	Weak transcription	NHLF	lung
9	chr1:85774600-85777600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:85774600-85777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:85774600-85777600	Weak transcription	Right Ventricle	heart
12	chr1:85774600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:85774600-85777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:85774600-85779000	Weak transcription	Fetal Heart	heart
15	chr1:85774600-85779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:85774600-85779400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:85774600-85779600	Weak transcription	Fetal Lung	lung
18	chr1:85774600-85779600	Weak transcription	Ovary	ovary
19	chr1:85774600-85779800	Weak transcription	Placenta	Placenta
20	chr1:85774600-85779800	Weak transcription	Right Atrium	heart
21	chr1:85774600-85780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:85774600-85780000	Weak transcription	Lung	lung
23	chr1:85774600-85780000	Weak transcription	Pancreas	Pancrea
24	chr1:85774600-85780000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:85774600-85780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:85774600-85782400	Weak transcription	Fetal Intestine Small	intestine
27	chr1:85774600-85785200	Weak transcription	Liver	Liver
28	chr1:85774600-85785800	Weak transcription	Fetal Intestine Large	intestine
29	chr1:85774600-85787000	Weak transcription	Fetal Stomach	stomach
30	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
31	chr1:85774800-85777400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:85774800-85777400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:85774800-85777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:85774800-85777600	Weak transcription	Fetal Brain Female	brain
37	chr1:85774800-85777600	Weak transcription	NHDF-Ad	bronchial
38	chr1:85774800-85777800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:85774800-85777800	Weak transcription	Psoas Muscle	Psoas
40	chr1:85774800-85777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:85774800-85779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:85774800-85779600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:85774800-85782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:85774800-85782200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:85774800-85784000	Weak transcription	HepG2	liver
46	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:85775000-85777600	Weak transcription	HSMM	muscle
50	chr1:85775000-85777600	Weak transcription	NH-A	brain

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