Variant report

Variant	rs7973479
Chromosome Location	chr12:40686323-40686324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10459265	0.86[CHB][hapmap]
rs10467144	0.86[CHB][hapmap]
rs10467146	0.90[CHB][hapmap]
rs10735931	0.86[CHB][hapmap]
rs10735934	0.90[CHB][hapmap]
rs10748029	0.89[CHB][hapmap]
rs10748030	0.86[CHB][hapmap]
rs10748033	0.86[CHB][hapmap]
rs10748034	0.86[CHB][hapmap]
rs10784444	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs10784461	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784462	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784470	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10784486	0.82[CHB][hapmap]
rs10784501	0.86[CHB][hapmap]
rs10784503	0.86[CHB][hapmap]
rs10784504	0.86[CHB][hapmap]
rs10784506	0.89[CHB][hapmap]
rs10784509	0.86[CHB][hapmap]
rs10784522	0.86[CHB][hapmap]
rs10784548	0.90[CHB][hapmap]
rs10878245	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs10878249	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs10878262	0.84[ASN][1000 genomes]
rs10878368	0.85[CHB][hapmap]
rs10878371	0.85[CHB][hapmap]
rs10878405	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs10878441	0.90[CHB][hapmap]
rs11175769	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175775	0.89[ASN][1000 genomes]
rs11175784	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175787	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175836	0.95[ASN][1000 genomes]
rs11175845	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175862	0.91[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs11175911	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175922	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176013	0.84[CHB][hapmap]
rs11176030	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs11564148	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs12146857	0.91[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs12367542	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs12369882	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12371502	0.85[ASN][1000 genomes]
rs12426362	0.86[CHB][hapmap]
rs12820920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1427264	0.86[CHB][hapmap]
rs1427265	0.85[CHB][hapmap]
rs1427266	0.85[CHB][hapmap]
rs1491938	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs17443815	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17444124	0.93[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17466605	0.86[CHB][hapmap]
rs17519846	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1896252	0.85[CHB][hapmap]
rs1896253	0.86[CHB][hapmap]
rs1896254	0.86[CHB][hapmap]
rs2114568	0.86[CHB][hapmap]
rs2114569	0.81[CHB][hapmap]
rs2162469	0.86[CHB][hapmap]
rs2404580	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2404581	0.86[CHB][hapmap]
rs35124455	0.86[ASN][1000 genomes]
rs3761863	0.90[CHB][hapmap]
rs3886747	0.85[CHB][hapmap]
rs4272849	0.93[CEU][hapmap];0.90[CHB][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4293189	0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4310676	0.83[CHB][hapmap]
rs4483664	0.83[CHB][hapmap]
rs4767969	0.86[CHB][hapmap]
rs4767973	0.85[CHB][hapmap]
rs4768224	0.82[CHB][hapmap]
rs4768227	0.81[CHB][hapmap]
rs4768229	0.85[CHB][hapmap]
rs4768230	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4768236	0.90[CHB][hapmap]
rs4768237	0.86[CHB][hapmap]
rs6581667	0.86[CHB][hapmap]
rs6581668	0.81[CHB][hapmap]
rs7132171	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs7137160	0.86[CHB][hapmap]
rs721711	0.86[CHB][hapmap]
rs721712	0.86[CHB][hapmap]
rs721713	0.85[CHB][hapmap]
rs7298930	0.85[CHB][hapmap]
rs7302841	0.86[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7307276	0.86[CHB][hapmap]
rs7307562	0.84[CHB][hapmap]
rs7308193	0.83[CHB][hapmap]
rs7309197	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs732374	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs7955902	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs7956721	0.82[JPT][hapmap]
rs7957057	0.82[CHB][hapmap]
rs7957754	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7962011	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7973058	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs954884	0.86[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
2	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
3	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
5	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
6	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
9	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
10	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:40674400-40760400	Weak transcription	Lung	lung
13	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:40678800-40689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
16	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
17	chr12:40680400-40692600	Weak transcription	Small Intestine	intestine
18	chr12:40680400-40709000	Weak transcription	Ovary	ovary
19	chr12:40681000-40694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:40682000-40694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:40683000-40689200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:40684000-40697800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:40684600-40687400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:40685200-40689000	Weak transcription	Adipose Nuclei	Adipose
29	chr12:40685800-40686800	Enhancers	Liver	Liver
30	chr12:40686200-40688800	Weak transcription	Primary B cells from peripheral blood	blood

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