Variant report

Variant	rs11588197
Chromosome Location	chr1:225989822-225989823
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225989164..225991391-chr1:225995297..225997953,3	K562	blood:
2	chr1:225974199..225976088-chr1:225987776..225990576,2	K562	blood:

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction

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

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

rs_ID	r²[population]
rs11583055	0.81[EUR][1000 genomes]
rs11587295	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11587753	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11588167	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];0.96[ASN][1000 genomes]
rs12568108	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3738045	1.00[AFR][1000 genomes]
rs3753658	0.88[CHB][hapmap];1.00[JPT][hapmap];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];0.90[ASN][1000 genomes]
rs61837988	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61837989	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61837991	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61837993	1.00[AFR][1000 genomes]
rs61837995	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61837996	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

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	chr1:225979000-225993200	Weak transcription	HUVEC	blood vessel
5	chr1:225979200-225997200	Weak transcription	Right Ventricle	heart
6	chr1:225979600-225997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:225979600-225997400	Weak transcription	Lung	lung
8	chr1:225979600-225997800	Weak transcription	Gastric	stomach
9	chr1:225979800-225997200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:225979800-225997200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:225979800-225997200	Weak transcription	A549	lung
12	chr1:225979800-225997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:225979800-225997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:225979800-225997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:225980000-225990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:225980000-225997200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:225980000-225997200	Weak transcription	Fetal Stomach	stomach
18	chr1:225980000-225997200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:225980000-225997200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:225980000-225997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:225980000-225997600	Weak transcription	Left Ventricle	heart
22	chr1:225981200-225997200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:225982200-225997200	Weak transcription	Thymus	Thymus
24	chr1:225982200-225997400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:225982200-225997400	Weak transcription	Ovary	ovary
26	chr1:225982600-225997200	Weak transcription	Placenta	Placenta
27	chr1:225983000-225995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:225983000-225997000	Weak transcription	Fetal Lung	lung
29	chr1:225983000-225997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:225983000-225997200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:225983000-225997200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:225983200-225996600	Weak transcription	Fetal Thymus	thymus
33	chr1:225983200-225997200	Weak transcription	HSMM	muscle
34	chr1:225983200-225997400	Weak transcription	Primary B cells from cord blood	blood
35	chr1:225983200-225997400	Weak transcription	Primary T cells from cord blood	blood
36	chr1:225983400-225993400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:225983400-225997200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:225983600-225997200	Weak transcription	Fetal Brain Female	brain
39	chr1:225984200-225993600	Weak transcription	Fetal Intestine Small	intestine
40	chr1:225984200-225997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:225984400-225997200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:225984600-225997400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:225984600-225997400	Weak transcription	Fetal Intestine Large	intestine
44	chr1:225984800-225992800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:225986000-225998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:225986200-225997200	Weak transcription	Brain Germinal Matrix	brain
47	chr1:225988400-225996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:225988600-225997400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:225988800-225997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:225989200-225997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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