Variant report

Variant	rs8181075
Chromosome Location	chr9:7055236-7055237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10429452	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs1093706	0.85[JPT][hapmap]
rs1093708	0.93[JPT][hapmap]
rs10975977	1.00[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10975979	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10975982	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10975983	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10976002	1.00[CEU][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10976003	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10976004	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10976011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976016	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10976034	0.87[EUR][1000 genomes]
rs12002543	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs12235561	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12236257	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1323402	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1407859	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1575451	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1578326	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16925141	0.84[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16925300	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs1814048	0.93[JPT][hapmap]
rs2297963	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792240	0.86[JPT][hapmap]
rs2792241	0.93[JPT][hapmap]
rs2792242	0.92[JPT][hapmap]
rs2890734	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2890735	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56063552	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60485419	0.87[EUR][1000 genomes]
rs62533861	0.89[EUR][1000 genomes]
rs62534416	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62534459	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477148	1.00[CEU][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6477151	0.89[EUR][1000 genomes]
rs7021973	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs7024887	0.89[EUR][1000 genomes]
rs7026804	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7031605	1.00[CEU][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs7032864	1.00[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs7036253	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs7038205	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs72703338	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72703343	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73401806	0.91[ASN][1000 genomes]
rs752644	0.86[JPT][hapmap]
rs752645	0.86[JPT][hapmap]
rs752646	0.86[JPT][hapmap]
rs754494	0.86[JPT][hapmap]
rs7848775	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8181057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818881	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs818889	0.86[JPT][hapmap]
rs818890	0.93[JPT][hapmap]
rs818897	0.93[JPT][hapmap]
rs912206	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv892181	chr9:6680477-7070962	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831501	chr9:6868099-7058526	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv892185	chr9:6929053-7070962	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv870178	chr9:6941584-7060029	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv892186	chr9:6942605-7075305	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024763	chr9:7022554-7061314	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv466117	chr9:7030268-7084558	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv613258	chr9:7030268-7084558	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
12	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8181075	DEFA1	trans	brain	seeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7009000-7056400	Weak transcription	Brain Substantia Nigra	brain
2	chr9:7009000-7076600	Weak transcription	HSMM	muscle
3	chr9:7009200-7077600	Weak transcription	Osteobl	bone
4	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
5	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
6	chr9:7012800-7076800	Weak transcription	Pancreas	Pancrea
7	chr9:7017800-7075000	Weak transcription	HepG2	liver
8	chr9:7018800-7064400	Weak transcription	Psoas Muscle	Psoas
9	chr9:7028400-7076800	Weak transcription	Placenta	Placenta
10	chr9:7028800-7076400	Weak transcription	Aorta	Aorta
11	chr9:7028800-7077000	Weak transcription	Esophagus	oesophagus
12	chr9:7028800-7086400	Weak transcription	Right Ventricle	heart
13	chr9:7029000-7061400	Weak transcription	Fetal Intestine Small	intestine
14	chr9:7029000-7076400	Weak transcription	Ovary	ovary
15	chr9:7029000-7076600	Weak transcription	Lung	lung
16	chr9:7029000-7077400	Weak transcription	Gastric	stomach
17	chr9:7029000-7081200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:7042200-7056800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:7043000-7069400	Weak transcription	NHDF-Ad	bronchial
21	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:7044400-7055600	Weak transcription	Hela-S3	cervix
23	chr9:7045000-7059200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:7045400-7077000	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:7045400-7077000	Weak transcription	HMEC	breast
26	chr9:7045600-7055400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr9:7046400-7077000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr9:7047600-7061400	Weak transcription	Spleen	Spleen
29	chr9:7049200-7075600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:7049400-7076000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:7050000-7076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:7050000-7082200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:7050200-7076600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:7050400-7061400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr9:7050400-7076400	Weak transcription	Dnd41	blood
36	chr9:7050800-7055400	Weak transcription	Left Ventricle	heart
37	chr9:7051000-7068600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:7051800-7076200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:7052000-7057400	Weak transcription	Thymus	Thymus
41	chr9:7052000-7057800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:7052000-7057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:7052000-7057800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr9:7052000-7057800	Weak transcription	Adipose Nuclei	Adipose
45	chr9:7052000-7064000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:7052000-7074800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:7052000-7075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:7052000-7076400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr9:7052200-7057200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr9:7052200-7057400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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