Variant report

Variant	rs11598657
Chromosome Location	chr10:49679917-49679918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49646827..49648798-chr10:49677849..49680976,3	K562	blood:
2	chr10:49620234..49623060-chr10:49677590..49681287,3	K562	blood:
3	chr10:49677142..49679992-chr10:49728038..49732327,4	K562	blood:
4	chr10:49677417..49680316-chr10:49708989..49711504,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

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

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

rs_ID	r²[population]
rs10857574	0.81[ASN][1000 genomes]
rs11101326	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs11101333	0.80[ASN][1000 genomes]
rs11101336	0.82[ASN][1000 genomes]
rs11101340	0.85[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs12355719	0.83[ASN][1000 genomes]
rs12356940	0.83[ASN][1000 genomes]
rs1867579	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2377354	0.85[CHB][hapmap]
rs3844600	0.85[JPT][hapmap]
rs3853762	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3954044	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4575219	0.81[ASN][1000 genomes]
rs4838594	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4838597	0.91[ASN][1000 genomes]
rs4838598	0.80[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs730509	0.80[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs753342	0.82[ASN][1000 genomes]
rs9794032	0.81[EUR][1000 genomes];0.93[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
2	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
3	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
4	chr10:49673000-49681200	Weak transcription	HSMM	muscle
5	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:49676000-49680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:49676200-49681600	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr10:49676800-49680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:49676800-49680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:49676800-49680400	Enhancers	NHEK	skin
12	chr10:49677000-49680800	Enhancers	HMEC	breast
13	chr10:49677200-49680200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:49677400-49680000	Enhancers	Esophagus	oesophagus
15	chr10:49678200-49687200	Weak transcription	HSMMtube	muscle
16	chr10:49678400-49681000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:49678400-49683800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:49678800-49680000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:49678800-49684000	Weak transcription	Placenta	Placenta
20	chr10:49678800-49684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:49678800-49684200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:49678800-49684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:49678800-49684200	Weak transcription	Right Atrium	heart
24	chr10:49679000-49680000	Enhancers	Osteobl	bone
25	chr10:49679000-49683800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:49679000-49683800	Weak transcription	Fetal Stomach	stomach
27	chr10:49679000-49684200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:49679000-49684400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:49679200-49680400	Genic enhancers	K562	blood
30	chr10:49679200-49682000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:49679400-49684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:49679400-49686200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr10:49679600-49681200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr10:49679600-49682000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:49679600-49683800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:49679600-49684000	Weak transcription	Ovary	ovary
38	chr10:49679600-49685400	Weak transcription	Brain Angular Gyrus	brain
39	chr10:49679800-49682800	Weak transcription	HUVEC	blood vessel
40	chr10:49679800-49683400	Weak transcription	Brain Substantia Nigra	brain
41	chr10:49679800-49683400	Weak transcription	NHLF	lung
42	chr10:49679800-49684000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:49679800-49684000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:49679800-49684200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:49679800-49684200	Weak transcription	Fetal Thymus	thymus
46	chr10:49679800-49684600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:49679800-49686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:49679800-49689000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr10:49679800-49704200	Weak transcription	NH-A	brain
50	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial

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