Variant report

Variant	rs7875612
Chromosome Location	chr9:13251770-13251771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1041507	1.00[AMR][1000 genomes]
rs1330127	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1330137	1.00[AMR][1000 genomes]
rs1412111	0.82[ASW][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs1537206	1.00[AMR][1000 genomes]
rs1999396	1.00[AMR][1000 genomes]
rs2131894	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4469558	1.00[AMR][1000 genomes]
rs4741292	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs7044288	1.00[AMR][1000 genomes]
rs7047484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7872825	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs7872990	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs985801	1.00[AMR][1000 genomes]
rs986481	1.00[AMR][1000 genomes]
rs990288	0.92[YRI][hapmap]

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	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv892583	chr9:13166139-13350478	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv892584	chr9:13214871-13350478	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv427838	chr9:13229753-13393890	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13164200-13258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:13189000-13268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:13203000-13261000	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:13208200-13265000	Weak transcription	Aorta	Aorta
5	chr9:13209800-13266000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:13219800-13265600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:13224000-13264600	Weak transcription	Osteobl	bone
8	chr9:13224400-13252400	Weak transcription	Liver	Liver
9	chr9:13226000-13252800	Weak transcription	Fetal Heart	heart
10	chr9:13226600-13259200	Weak transcription	Right Ventricle	heart
11	chr9:13226800-13278000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:13232400-13264800	Weak transcription	NH-A	brain
13	chr9:13233800-13255400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:13236400-13264400	Weak transcription	Fetal Intestine Small	intestine
15	chr9:13238000-13264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:13238400-13254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:13240000-13278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:13240200-13253400	Weak transcription	Placenta	Placenta
19	chr9:13240200-13255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:13240800-13263000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:13242800-13253800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:13243000-13255600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:13243000-13264800	Weak transcription	Ovary	ovary
24	chr9:13244200-13267600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:13245800-13264800	Weak transcription	A549	lung
26	chr9:13246200-13257200	Weak transcription	Gastric	stomach
27	chr9:13246400-13251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:13246400-13253600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:13246600-13260800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr9:13247400-13254200	Weak transcription	Brain Substantia Nigra	brain
31	chr9:13247600-13255400	Weak transcription	Brain Anterior Caudate	brain
32	chr9:13247800-13252200	Weak transcription	Left Ventricle	heart
33	chr9:13247800-13253600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:13247800-13253800	Weak transcription	Adipose Nuclei	Adipose
35	chr9:13247800-13255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:13247800-13255000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:13247800-13255000	Weak transcription	Fetal Brain Female	brain
38	chr9:13247800-13255400	Weak transcription	Brain Germinal Matrix	brain
39	chr9:13247800-13255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:13247800-13256000	Weak transcription	Fetal Lung	lung
41	chr9:13247800-13258600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:13247800-13259200	Weak transcription	HUVEC	blood vessel
43	chr9:13247800-13266000	Weak transcription	HSMM	muscle
44	chr9:13248000-13254000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr9:13248000-13254600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:13248000-13255400	Weak transcription	Fetal Muscle Leg	muscle
47	chr9:13248000-13264800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:13248000-13267800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr9:13248000-13268600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:13248800-13265000	Weak transcription	Fetal Stomach	stomach

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