Variant report

Variant	rs11590047
Chromosome Location	chr1:85763154-85763155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85749046..85750633-chr1:85762550..85764721,2	K562	blood:
2	chr1:85740595..85746052-chr1:85759606..85765261,11	MCF-7	breast:
3	chr1:85761882..85764422-chr1:85771708..85774454,2	MCF-7	breast:
4	chr1:85761848..85764008-chr1:87580621..87583123,2	K562	blood:
5	chr1:85743301..85744936-chr1:85762613..85765116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223653	Chromatin interaction
ENSG00000264380	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11161573	0.81[ASN][1000 genomes]
rs11161585	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161586	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11576939	0.85[ASN][1000 genomes]
rs11580090	0.86[ASN][1000 genomes]
rs11583827	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585614	0.88[ASN][1000 genomes]
rs11587512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061305	0.87[ASN][1000 genomes]
rs12061512	0.85[ASN][1000 genomes]
rs12093484	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12405767	0.87[ASN][1000 genomes]
rs12754032	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125445	0.88[ASN][1000 genomes]
rs2012099	0.84[ASN][1000 genomes]
rs34743622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949927	0.85[ASN][1000 genomes]
rs4949928	0.85[ASN][1000 genomes]
rs57483398	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60325409	0.83[ASN][1000 genomes]
rs61771982	0.89[ASN][1000 genomes]
rs6668948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670921	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7554249	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
2	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:85755800-85763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:85756600-85763200	Weak transcription	GM12878-XiMat	blood
6	chr1:85759200-85763400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85759600-85765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:85759800-85763200	Enhancers	NHLF	lung
9	chr1:85759800-85763400	Enhancers	HUVEC	blood vessel
10	chr1:85761800-85763200	Weak transcription	Spleen	Spleen
11	chr1:85762200-85763200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85762200-85763400	Enhancers	Fetal Stomach	stomach
13	chr1:85762400-85763200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:85762400-85763200	Enhancers	HSMM	muscle
15	chr1:85762600-85763200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:85762600-85763200	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:85762600-85763200	Enhancers	NHDF-Ad	bronchial
18	chr1:85762600-85763400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:85762600-85763400	Enhancers	Fetal Lung	lung
20	chr1:85762600-85763400	Enhancers	A549	lung
21	chr1:85762600-85764000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:85762600-85764600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:85762600-85764600	Enhancers	Stomach Mucosa	stomach
24	chr1:85762800-85763200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:85762800-85763200	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:85762800-85763400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85762800-85763400	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:85762800-85763400	Enhancers	Fetal Intestine Large	intestine
29	chr1:85762800-85763400	Enhancers	Fetal Intestine Small	intestine
30	chr1:85762800-85763400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:85762800-85763600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:85762800-85763600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr1:85762800-85763800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:85762800-85764200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:85762800-85764200	Flanking Active TSS	NHEK	skin
36	chr1:85762800-85764400	Enhancers	Fetal Muscle Leg	muscle
37	chr1:85762800-85764600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:85762800-85764600	Enhancers	Aorta	Aorta
39	chr1:85762800-85764600	Enhancers	Esophagus	oesophagus
40	chr1:85762800-85764600	Enhancers	Fetal Thymus	thymus
41	chr1:85762800-85764600	Enhancers	Pancreas	Pancrea
42	chr1:85762800-85765400	Enhancers	HSMMtube	muscle
43	chr1:85762800-85765600	Enhancers	Lung	lung
44	chr1:85763000-85763400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:85763000-85763400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:85763000-85763600	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr1:85763000-85763600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:85763000-85763800	Enhancers	Adipose Nuclei	Adipose
49	chr1:85763000-85764000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:85763000-85764000	Flanking Active TSS	HMEC	breast

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