Variant report

Variant	rs9515199
Chromosome Location	chr13:111033704-111033705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111021258..111023149-chr13:111033167..111035272,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11838637	0.90[ASN][1000 genomes]
rs1999013	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4771674	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773170	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4773171	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4773173	0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs61963197	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7318424	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs7333748	0.83[JPT][hapmap]
rs7334022	0.84[JPT][hapmap]
rs750598	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs872587	0.83[JPT][hapmap]
rs872588	0.83[JPT][hapmap]
rs872589	0.83[JPT][hapmap]
rs913746	0.83[JPT][hapmap]
rs9515195	0.84[JPT][hapmap]
rs9515196	0.84[JPT][hapmap]
rs9515197	0.84[JPT][hapmap]
rs9515200	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521717	0.83[JPT][hapmap]
rs9521718	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs9521719	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs9521720	0.83[JPT][hapmap]
rs9521721	0.84[JPT][hapmap]
rs9521730	0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9521732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521733	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521734	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521739	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs952359	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs9555692	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs9555694	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9555695	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9559780	0.83[JPT][hapmap]
rs9559781	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9588151	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
2	chr13:111019600-111034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:111028400-111034600	Enhancers	NHDF-Ad	bronchial
6	chr13:111029000-111033800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:111029400-111034200	Genic enhancers	Osteobl	bone
8	chr13:111030600-111034200	Enhancers	Ovary	ovary
9	chr13:111031000-111033800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:111031000-111033800	Enhancers	Right Atrium	heart
11	chr13:111031000-111034000	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr13:111031000-111034400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:111031000-111038400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:111031000-111039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:111031200-111033800	Enhancers	Left Ventricle	heart
16	chr13:111031400-111034200	Genic enhancers	Fetal Muscle Leg	muscle
17	chr13:111031600-111034400	Genic enhancers	Adipose Nuclei	Adipose
18	chr13:111031600-111035400	Enhancers	NHLF	lung
19	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
20	chr13:111031800-111035800	Enhancers	HUVEC	blood vessel
21	chr13:111032000-111034200	Enhancers	Gastric	stomach
22	chr13:111032000-111034200	Enhancers	HSMMtube	muscle
23	chr13:111032000-111034400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:111032200-111033800	Enhancers	Lung	lung
25	chr13:111032200-111034400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:111032400-111033800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:111032400-111035200	Enhancers	NHEK	skin
28	chr13:111032600-111033800	Strong transcription	Fetal Stomach	stomach
29	chr13:111032600-111034200	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:111032600-111036600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:111032600-111037600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:111032600-111037600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:111032800-111034800	Enhancers	HMEC	breast
35	chr13:111032800-111036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr13:111033000-111035400	Genic enhancers	HSMM	muscle
37	chr13:111033200-111033800	Enhancers	Esophagus	oesophagus
38	chr13:111033200-111034200	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr13:111033200-111034400	Genic enhancers	NH-A	brain
40	chr13:111033200-111034600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:111033200-111037000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr13:111033200-111039600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr13:111033200-111039800	Weak transcription	Fetal Lung	lung
44	chr13:111033200-111040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr13:111033400-111033800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr13:111033400-111034200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:111033400-111034400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:111033400-111034600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:111033400-111034800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:111033400-111035600	Weak transcription	Fetal Heart	heart

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