Variant report

Variant	rs9590220
Chromosome Location	chr13:95906694-95906695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11616679	0.80[MEX][hapmap]
rs12100301	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12584649	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17235152	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148431	0.86[MEX][hapmap];0.82[EUR][1000 genomes]
rs4148442	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs4148451	0.81[CHB][hapmap]
rs59257629	0.81[EUR][1000 genomes]
rs8003006	0.81[CHB][hapmap]
rs9524868	0.98[ASN][1000 genomes]
rs9590216	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9590218	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9590219	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9590222	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.98[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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95879200-95907400	Weak transcription	Small Intestine	intestine
2	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
4	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:95888000-95909000	Weak transcription	Fetal Stomach	stomach
6	chr13:95888400-95906800	Weak transcription	Gastric	stomach
7	chr13:95890000-95907600	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:95891800-95908000	Weak transcription	Esophagus	oesophagus
9	chr13:95896200-95923400	Weak transcription	Ovary	ovary
10	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr13:95898800-95908000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr13:95898800-95919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:95899000-95910000	Weak transcription	Fetal Intestine Large	intestine
14	chr13:95899000-95919600	Weak transcription	Fetal Lung	lung
15	chr13:95899400-95907000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:95899800-95919600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:95900000-95907400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:95900000-95907600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:95900000-95908000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:95900000-95910200	Weak transcription	Fetal Intestine Small	intestine
21	chr13:95900000-95918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:95900000-95918800	Weak transcription	Lung	lung
23	chr13:95900000-95919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:95900600-95907000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:95904000-95910400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:95904000-95917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:95904400-95906800	Enhancers	A549	lung
29	chr13:95904400-95907600	Enhancers	GM12878-XiMat	blood
30	chr13:95905400-95907000	Weak transcription	HepG2	liver
31	chr13:95905400-95909000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:95905400-95909000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:95906000-95909000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:95906000-95909000	Enhancers	HSMM	muscle
35	chr13:95906000-95909200	Enhancers	HUVEC	blood vessel
36	chr13:95906000-95909200	Enhancers	NHEK	skin
37	chr13:95906200-95906800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:95906200-95907000	Enhancers	HSMMtube	muscle
39	chr13:95906200-95908800	Enhancers	NH-A	brain
40	chr13:95906200-95909000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:95906200-95909000	Enhancers	NHDF-Ad	bronchial
42	chr13:95906200-95909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:95906200-95909400	Enhancers	HMEC	breast
44	chr13:95906200-95909400	Enhancers	NHLF	lung
45	chr13:95906200-95910600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:95906400-95907000	Enhancers	Osteobl	bone
47	chr13:95906400-95908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:95906400-95909200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:95906400-95909200	Enhancers	Hela-S3	cervix
50	chr13:95906600-95907000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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