Variant report

Variant	rs9595991
Chromosome Location	chr13:49324534-49324535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49323717..49324650-chr13:49343067..49343837,2	K562	blood:
2	chr13:49323328..49325913-chr13:49330163..49332626,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12184837	0.88[ASN][1000 genomes]
rs17072105	0.87[EUR][1000 genomes]
rs17072179	0.94[ASN][1000 genomes]
rs17072181	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1998511	0.87[EUR][1000 genomes]
rs28445170	0.94[ASN][1000 genomes]
rs41448845	0.85[ASN][1000 genomes]
rs56686141	0.88[ASN][1000 genomes]
rs56828527	0.88[ASN][1000 genomes]
rs56959802	0.81[EUR][1000 genomes]
rs57042574	0.81[EUR][1000 genomes]
rs57186324	0.87[EUR][1000 genomes]
rs58150329	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59643165	0.88[ASN][1000 genomes]
rs60424010	0.81[EUR][1000 genomes]
rs61027580	0.84[EUR][1000 genomes]
rs6561478	0.90[EUR][1000 genomes]
rs7327830	0.94[ASN][1000 genomes]
rs73478325	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73480251	0.88[ASN][1000 genomes]
rs73484311	0.88[ASN][1000 genomes]
rs73484314	0.88[ASN][1000 genomes]
rs895968	0.88[ASN][1000 genomes]
rs9591202	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9591203	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9591204	0.93[EUR][1000 genomes]
rs9591205	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9591207	0.94[ASN][1000 genomes]
rs9591208	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9591209	0.94[ASN][1000 genomes]
rs9591211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9595975	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9595977	0.87[EUR][1000 genomes]
rs9595978	0.84[EUR][1000 genomes]
rs9595985	0.94[ASN][1000 genomes]
rs9595986	0.94[ASN][1000 genomes]
rs9595987	0.94[ASN][1000 genomes]
rs9595989	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595990	0.97[ASN][1000 genomes]
rs9595993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9595996	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs985466	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1049066	chr13:49316146-49346405	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49322200-49324800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:49322200-49325200	Enhancers	HMEC	breast
3	chr13:49322400-49325000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:49322400-49325400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:49322400-49325400	Enhancers	Adipose Nuclei	Adipose
6	chr13:49322400-49325800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:49322600-49324600	Enhancers	NHEK	skin
8	chr13:49322600-49324800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:49322600-49325000	Enhancers	HSMM	muscle
10	chr13:49322600-49325400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:49322600-49325400	Enhancers	NHDF-Ad	bronchial
12	chr13:49322800-49325000	Enhancers	Osteobl	bone
13	chr13:49323000-49324800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:49323000-49325200	Enhancers	NHLF	lung
15	chr13:49323000-49325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:49323200-49324600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:49323200-49324600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:49323200-49324600	Enhancers	GM12878-XiMat	blood
19	chr13:49323200-49325000	Weak transcription	Ovary	ovary
20	chr13:49323200-49325200	Enhancers	Brain Hippocampus Middle	brain
21	chr13:49323200-49325400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr13:49323400-49324600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr13:49323400-49324800	Enhancers	Brain Anterior Caudate	brain
24	chr13:49323400-49324800	Weak transcription	Left Ventricle	heart
25	chr13:49323400-49325400	Enhancers	Brain Substantia Nigra	brain
26	chr13:49323400-49325400	Enhancers	Duodenum Mucosa	Duodenum
27	chr13:49323400-49325600	Enhancers	Placenta	Placenta
28	chr13:49323400-49325600	Enhancers	Fetal Stomach	stomach
29	chr13:49323400-49325600	Enhancers	Rectal Smooth Muscle	rectum
30	chr13:49323400-49325600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr13:49323400-49325800	Enhancers	Colon Smooth Muscle	Colon
32	chr13:49323600-49324800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:49323600-49324800	Weak transcription	Lung	lung
34	chr13:49323600-49325200	Weak transcription	Right Atrium	heart
35	chr13:49323600-49326000	Enhancers	Fetal Heart	heart
36	chr13:49323800-49324600	Enhancers	HUVEC	blood vessel
37	chr13:49323800-49324800	Enhancers	HSMMtube	muscle
38	chr13:49323800-49325600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr13:49324000-49324600	Enhancers	K562	blood
40	chr13:49324000-49325600	Enhancers	Brain Angular Gyrus	brain
41	chr13:49324200-49324600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr13:49324200-49324600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:49324200-49324600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr13:49324200-49324600	Enhancers	Fetal Intestine Small	intestine
45	chr13:49324200-49324600	Flanking Active TSS	Hela-S3	cervix
46	chr13:49324200-49324600	Flanking Active TSS	NH-A	brain
47	chr13:49324200-49325000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:49324200-49325000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:49324200-49325200	Enhancers	Brain Cingulate Gyrus	brain
50	chr13:49324400-49324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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