Variant report

Variant	rs2812303
Chromosome Location	chr9:108208482-108208483
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	chr9:108196491..108199020-chr9:108207109..108209245,2	K562	blood:
2	chr9:108207677..108209988-chr9:108545420..108547936,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10761100	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10816278	0.83[AMR][1000 genomes]
rs10820810	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10820812	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs10820813	0.96[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1327354	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1360089	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1806898	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1815383	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1960023	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1987634	0.84[EUR][1000 genomes]
rs2225246	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2518106	0.91[CEU][hapmap]
rs2518112	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2518114	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2518116	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2518120	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2518123	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs2518128	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2518131	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs2768279	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2768280	0.80[EUR][1000 genomes]
rs2768283	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768290	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768291	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2768294	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs2771038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2771041	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2771042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2812297	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2812307	0.86[ASN][1000 genomes]
rs2812308	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2812310	0.88[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4742947	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4742948	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6477449	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7020083	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7357632	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108195800-108209800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:108201000-108209600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr9:108201600-108209800	Weak transcription	NHLF	lung
4	chr9:108204200-108209800	Weak transcription	Right Ventricle	heart
5	chr9:108204600-108209200	Weak transcription	Fetal Brain Male	brain
6	chr9:108204600-108209800	Weak transcription	Liver	Liver
7	chr9:108204600-108209800	Weak transcription	Fetal Heart	heart
8	chr9:108206000-108209800	Weak transcription	Psoas Muscle	Psoas
9	chr9:108206200-108209600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:108206600-108209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:108206800-108209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:108206800-108209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:108206800-108209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:108207000-108209200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:108207000-108209400	Weak transcription	NHEK	skin
16	chr9:108207000-108209600	Weak transcription	HMEC	breast
17	chr9:108207000-108209600	Weak transcription	NH-A	brain
18	chr9:108207000-108209800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:108207400-108208600	Enhancers	Brain Hippocampus Middle	brain
20	chr9:108207400-108208800	Enhancers	Fetal Muscle Trunk	muscle
21	chr9:108207800-108209800	Weak transcription	Colonic Mucosa	Colon
22	chr9:108208000-108209600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:108208000-108209600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:108208000-108209600	Weak transcription	Adipose Nuclei	Adipose
25	chr9:108208000-108209600	Weak transcription	Osteobl	bone
26	chr9:108208000-108209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:108208000-108209800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:108208000-108209800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:108208000-108209800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:108208000-108209800	Weak transcription	Left Ventricle	heart
31	chr9:108208200-108209400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:108208200-108209400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:108208200-108209600	Weak transcription	Brain Angular Gyrus	brain
34	chr9:108208200-108209600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:108208200-108209600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr9:108208200-108209600	Weak transcription	HSMM	muscle
37	chr9:108208200-108209600	Weak transcription	NHDF-Ad	bronchial
38	chr9:108208200-108209800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:108208200-108209800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:108208200-108209800	Weak transcription	Right Atrium	heart
41	chr9:108208200-108209800	Weak transcription	HSMMtube	muscle
42	chr9:108208400-108209200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:108208400-108209600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:108208400-108209600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:108208400-108209600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr9:108208400-108209600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:108208400-108209600	Weak transcription	Brain Anterior Caudate	brain
48	chr9:108208400-108209600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr9:108208400-108209600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:108208400-108209600	Enhancers	Skeletal Muscle Male	skeletal muscle

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