Variant report

Variant	rs11587295
Chromosome Location	chr1:225995960-225995961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:225995895-225996488	PBDE	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225992366..225996825-chr1:225996900..226001278,7	K562	blood:
2	chr1:225993855..225996522-chr1:225998184..225999868,2	MCF-7	breast:
3	chr1:225989164..225991391-chr1:225995297..225997953,3	K562	blood:
4	chr1:225962294..225967531-chr1:225994011..226002080,11	K562	blood:
5	chr1:225986362..225988061-chr1:225993922..225996421,2	MCF-7	breast:
6	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
7	chr1:225995407..225997753-chr1:226172864..226175325,2	K562	blood:

No data

Variant related genes	Relation type
EPHX1	TF binding region
ENSG00000143742	Chromatin interaction
ENSG00000234112	Chromatin interaction
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11587753	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11588167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588197	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11588766	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12568108	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3738045	1.00[AFR][1000 genomes]
rs3753658	1.00[AFR][1000 genomes]
rs3753659	1.00[AFR][1000 genomes]
rs3753660	1.00[AFR][1000 genomes]
rs4149222	1.00[AFR][1000 genomes]
rs45607741	1.00[AFR][1000 genomes]
rs56187333	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs61837988	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61837989	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61837991	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61837993	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61837995	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61837996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv945327	chr1:225991086-225998770	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225975000-225997200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:225975000-225997400	Weak transcription	Aorta	Aorta
3	chr1:225978800-225997200	Weak transcription	K562	blood
4	chr1:225979200-225997200	Weak transcription	Right Ventricle	heart
5	chr1:225979600-225997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:225979600-225997400	Weak transcription	Lung	lung
7	chr1:225979600-225997800	Weak transcription	Gastric	stomach
8	chr1:225979800-225997200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:225979800-225997200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:225979800-225997200	Weak transcription	A549	lung
11	chr1:225979800-225997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:225979800-225997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:225979800-225997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:225980000-225997200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:225980000-225997200	Weak transcription	Fetal Stomach	stomach
16	chr1:225980000-225997200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:225980000-225997200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:225980000-225997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:225980000-225997600	Weak transcription	Left Ventricle	heart
20	chr1:225981200-225997200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:225982200-225997200	Weak transcription	Thymus	Thymus
22	chr1:225982200-225997400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:225982200-225997400	Weak transcription	Ovary	ovary
24	chr1:225982600-225997200	Weak transcription	Placenta	Placenta
25	chr1:225983000-225997000	Weak transcription	Fetal Lung	lung
26	chr1:225983000-225997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:225983000-225997200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:225983000-225997200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:225983200-225996600	Weak transcription	Fetal Thymus	thymus
30	chr1:225983200-225997200	Weak transcription	HSMM	muscle
31	chr1:225983200-225997400	Weak transcription	Primary B cells from cord blood	blood
32	chr1:225983200-225997400	Weak transcription	Primary T cells from cord blood	blood
33	chr1:225983400-225997200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:225983600-225997200	Weak transcription	Fetal Brain Female	brain
35	chr1:225984200-225997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:225984400-225997200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:225984600-225997400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:225984600-225997400	Weak transcription	Fetal Intestine Large	intestine
39	chr1:225986000-225998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:225986200-225997200	Weak transcription	Brain Germinal Matrix	brain
41	chr1:225988400-225996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:225988600-225997400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:225988800-225997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:225989200-225997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:225989600-225997200	Weak transcription	Liver	Liver
46	chr1:225991000-225997000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:225991200-225997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:225993800-225997200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:225993800-225997200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:225993800-225997400	Weak transcription	HUVEC	blood vessel

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