Variant report

Variant	rs11165027
Chromosome Location	chr1:94337515-94337516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94333938-94341380	K562	blood:	n/a	n/a
2	POLR2A	chr1:94336792-94337706	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94337347..94339597-chr1:94344098..94346567,2	MCF-7	breast:
2	chr1:94336970..94338726-chr1:94373816..94376515,2	K562	blood:
3	chr1:94336837..94340766-chr1:94341847..94346212,6	K562	blood:
4	chr1:94335249..94337846-chr1:94338670..94340764,2	K562	blood:
5	chr1:94312026..94313686-chr1:94337188..94339061,2	MCF-7	breast:
6	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
7	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
8	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
9	chr1:94336863..94338499-chr1:94348884..94351600,2	K562	blood:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
ENSG00000023909	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10874804	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874805	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165032	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805379	1.00[ASN][1000 genomes]
rs11808380	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059028	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12062272	1.00[ASN][1000 genomes]
rs12062925	1.00[ASN][1000 genomes]
rs12069476	1.00[ASN][1000 genomes]
rs12076074	1.00[ASN][1000 genomes]
rs12078134	1.00[ASN][1000 genomes]
rs12080386	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081399	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090230	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094966	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110374	1.00[ASN][1000 genomes]
rs17110608	1.00[ASN][1000 genomes]
rs2234729	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075342	1.00[ASN][1000 genomes]
rs41292667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292671	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4542218	1.00[ASN][1000 genomes]
rs57136451	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58790885	1.00[ASN][1000 genomes]
rs59444123	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59545065	1.00[ASN][1000 genomes]
rs60057678	0.94[AFR][1000 genomes]
rs61750895	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6541397	1.00[ASN][1000 genomes]
rs6680755	1.00[ASN][1000 genomes]
rs6686765	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692306	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701957	1.00[ASN][1000 genomes]
rs6702045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702064	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704348	1.00[ASN][1000 genomes]
rs72965451	1.00[ASN][1000 genomes]
rs72967332	1.00[ASN][1000 genomes]
rs72967387	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72969374	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514067	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515991	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525516	1.00[ASN][1000 genomes]
rs7552401	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555872	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94329800-94343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94330000-94338800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94330600-94343600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:94331000-94339000	Weak transcription	Pancreas	Pancrea
6	chr1:94332400-94342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:94332800-94339600	Weak transcription	Stomach Mucosa	stomach
8	chr1:94332800-94340800	Strong transcription	Left Ventricle	heart
9	chr1:94332800-94341400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:94332800-94341600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:94332800-94341600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:94332800-94341800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:94332800-94341800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:94332800-94341800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:94332800-94343200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:94332800-94343200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:94333000-94341600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:94333000-94342000	Strong transcription	Fetal Brain Female	brain
19	chr1:94333200-94341600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:94333200-94341600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:94333200-94343200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:94333400-94341600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:94333600-94341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:94333800-94341200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:94333800-94341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:94333800-94343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:94334000-94340800	Strong transcription	Brain Anterior Caudate	brain
28	chr1:94334000-94341200	Strong transcription	Primary T cells from cord blood	blood
29	chr1:94334000-94341200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr1:94334000-94341600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:94334000-94341600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:94334000-94341600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:94334000-94341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:94334000-94341800	Strong transcription	Fetal Kidney	kidney
35	chr1:94334000-94341800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:94334000-94342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:94334000-94343000	Strong transcription	Fetal Thymus	thymus
38	chr1:94334000-94343400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:94334200-94337600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:94334200-94337600	Strong transcription	Brain Angular Gyrus	brain
41	chr1:94334200-94339200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:94334200-94339400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:94334200-94340800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:94334200-94341200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:94334200-94341600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:94334200-94341600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:94334200-94341600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:94334200-94341600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:94334200-94341600	Strong transcription	Adipose Nuclei	Adipose
50	chr1:94334200-94341600	Strong transcription	Liver	Liver

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