Variant report

Variant	rs9783047
Chromosome Location	chr1:175955734-175955735
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10158829	0.82[CHB][hapmap]
rs10436864	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10494496	0.82[CHB][hapmap]
rs10494499	0.91[CEU][hapmap]
rs10737315	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10737316	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10753111	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10798427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798428	0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798431	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10798432	0.93[YRI][hapmap];0.86[ASN][1000 genomes]
rs10798433	0.81[ASN][1000 genomes]
rs10913109	0.85[AMR][1000 genomes]
rs1155229	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11576862	0.82[EUR][1000 genomes]
rs11806468	0.82[CHB][hapmap]
rs12029090	0.85[YRI][hapmap]
rs12038027	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239888	0.82[CHB][hapmap]
rs12404181	0.80[EUR][1000 genomes]
rs1357337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522637	1.00[CHB][hapmap]
rs16849522	0.82[CHB][hapmap]
rs17351808	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs17351933	0.91[CEU][hapmap]
rs17354252	0.91[CEU][hapmap]
rs1770643	0.84[AMR][1000 genomes]
rs1831447	0.82[CHB][hapmap]
rs2039231	1.00[CHB][hapmap];0.90[YRI][hapmap]
rs2039232	1.00[CHB][hapmap]
rs2481627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2481634	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2481641	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2481647	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2481651	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2481653	1.00[CHB][hapmap]
rs2481657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2502822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2502824	1.00[CHB][hapmap]
rs2502826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2502830	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2502832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2502834	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs2502835	1.00[CHB][hapmap];0.90[YRI][hapmap]
rs2502836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2502841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2502842	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes]
rs2502847	0.84[AMR][1000 genomes]
rs2861629	1.00[CHB][hapmap]
rs2861630	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs3845368	0.82[CHB][hapmap]
rs4129061	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4304533	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4307526	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4314844	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4460596	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs4543747	1.00[CHB][hapmap]
rs4601543	0.84[EUR][1000 genomes]
rs4603086	0.84[AMR][1000 genomes]
rs4652143	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4652148	0.82[CHB][hapmap]
rs4652152	0.82[CHB][hapmap]
rs471534	0.84[AMR][1000 genomes]
rs553852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes]
rs559341	1.00[CHB][hapmap]
rs56367284	0.84[AMR][1000 genomes]
rs599326	1.00[CHB][hapmap]
rs602933	1.00[CHB][hapmap]
rs60964243	0.91[EUR][1000 genomes]
rs61186664	0.84[EUR][1000 genomes]
rs611883	0.84[AMR][1000 genomes]
rs61820953	0.91[EUR][1000 genomes]
rs61820960	0.88[EUR][1000 genomes]
rs61820965	0.84[EUR][1000 genomes]
rs61820968	0.84[EUR][1000 genomes]
rs61821029	0.84[AMR][1000 genomes]
rs61822767	0.88[EUR][1000 genomes]
rs6425367	0.95[ASN][1000 genomes]
rs6425368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425370	0.81[ASN][1000 genomes]
rs6661828	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6680309	0.86[EUR][1000 genomes]
rs6684747	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6687043	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs6688211	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6704509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs704827	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs74127150	0.86[EUR][1000 genomes]
rs74127154	0.91[EUR][1000 genomes]
rs7517351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521561	1.00[CHB][hapmap]
rs7522442	1.00[CHB][hapmap]
rs7524972	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536464	1.00[CHB][hapmap]
rs7537435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7537480	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7539247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7543769	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7545043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545639	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7552181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7553184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7554913	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs791744	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes]
rs791801	0.84[AMR][1000 genomes]
rs796933	1.00[CHB][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
2	chr1:175906400-175962600	Weak transcription	NH-A	brain
3	chr1:175908000-175959400	Weak transcription	NHEK	skin
4	chr1:175946000-175996000	Weak transcription	HMEC	breast
5	chr1:175948200-175957400	Weak transcription	Brain Substantia Nigra	brain
6	chr1:175948200-175961400	Weak transcription	NHLF	lung
7	chr1:175949200-175958600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:175949200-175958600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:175949400-175957000	Weak transcription	Osteobl	bone
10	chr1:175950000-175961200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:175950200-175956400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:175951200-175957600	Strong transcription	HSMM	muscle
13	chr1:175951600-175956200	Strong transcription	Hela-S3	cervix
14	chr1:175951600-175958600	Weak transcription	Fetal Heart	heart
15	chr1:175951800-175956000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:175952000-175958000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:175952600-175958800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:175953000-175958000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:175953000-175958200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:175953200-175960000	Weak transcription	Fetal Brain Male	brain
21	chr1:175953400-175957400	Strong transcription	NHDF-Ad	bronchial
22	chr1:175953600-175958600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:175953600-175960800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:175953800-175956200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:175953800-175956200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:175953800-175956400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:175953800-175957600	Weak transcription	Right Ventricle	heart
28	chr1:175953800-175958000	Strong transcription	Fetal Thymus	thymus
29	chr1:175953800-175958400	Weak transcription	Small Intestine	intestine
30	chr1:175953800-175958600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:175953800-175958600	Strong transcription	Adipose Nuclei	Adipose
32	chr1:175953800-175958800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:175953800-175959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:175953800-175959000	Weak transcription	HUVEC	blood vessel
35	chr1:175953800-175961000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:175953800-175962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
38	chr1:175954000-175956000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:175954000-175957000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:175954000-175957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:175954000-175958000	Strong transcription	Primary T cells from cord blood	blood
42	chr1:175954000-175958200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:175954000-175958400	Strong transcription	Placenta	Placenta
44	chr1:175954000-175958600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:175954000-175958600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:175954000-175958600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:175954000-175958600	Strong transcription	Ovary	ovary
48	chr1:175954000-175958800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:175954000-175958800	Weak transcription	Pancreas	Pancrea
50	chr1:175954000-175959000	Weak transcription	Aorta	Aorta

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