Variant report

Variant	rs4473003
Chromosome Location	chr12:40681057-40681058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506148	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs10784486	0.81[ASW][hapmap]
rs10784528	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10878291	0.82[AMR][1000 genomes]
rs11564115	0.85[CHB][hapmap];0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs1388593	0.80[ASN][1000 genomes]
rs1388596	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs1427259	0.88[CEU][hapmap]
rs1427261	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs1427263	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs1427267	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs1465527	0.89[EUR][1000 genomes]
rs1472117	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs1491939	0.95[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs17484286	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1816207	0.88[CEU][hapmap]
rs1817817	0.83[ASN][1000 genomes]
rs1834745	0.90[EUR][1000 genomes]
rs1907630	0.80[ASN][1000 genomes]
rs1907631	0.80[ASN][1000 genomes]
rs1907634	0.83[ASN][1000 genomes]
rs2069228	0.94[YRI][hapmap]
rs2081702	0.90[EUR][1000 genomes]
rs2131088	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs2172240	0.80[ASN][1000 genomes]
rs2172241	0.80[ASN][1000 genomes]
rs2201144	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2708426	0.80[ASN][1000 genomes]
rs2708436	0.84[ASN][1000 genomes]
rs2708437	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs2708438	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs2708441	0.83[ASN][1000 genomes]
rs2723260	0.80[ASN][1000 genomes]
rs2723268	0.87[ASN][1000 genomes]
rs2723269	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs2896975	0.94[YRI][hapmap]
rs3861083	0.88[CEU][hapmap]
rs4099579	0.88[CEU][hapmap]
rs4465428	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4767971	0.89[CEU][hapmap];0.90[CHB][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767972	0.80[CEU][hapmap]
rs4768224	0.81[ASW][hapmap]
rs4768238	0.90[EUR][1000 genomes]
rs6581723	0.86[TSI][hapmap]
rs7131694	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7134572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7137665	0.86[ASW][hapmap];0.93[YRI][hapmap]
rs715402	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs721709	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs7302503	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs7305344	0.94[YRI][hapmap]
rs7307310	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955042	0.90[EUR][1000 genomes]
rs7957057	0.86[ASW][hapmap];0.83[YRI][hapmap]
rs7962370	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs7963086	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs963243	0.88[YRI][hapmap]

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:36 , 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	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
11	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
12	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:40670400-40684000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:40670800-40683600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40671200-40681600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:40674400-40760400	Weak transcription	Lung	lung
20	chr12:40676000-40684600	Strong transcription	Primary B cells from cord blood	blood
21	chr12:40676400-40683600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:40677200-40682400	Strong transcription	Adipose Nuclei	Adipose
24	chr12:40677400-40683400	Strong transcription	Liver	Liver
25	chr12:40677800-40683000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:40678800-40689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
28	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
29	chr12:40680200-40681200	Flanking Active TSS	A549	lung
30	chr12:40680200-40682000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:40680400-40692600	Weak transcription	Small Intestine	intestine
32	chr12:40680400-40709000	Weak transcription	Ovary	ovary
33	chr12:40680800-40683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:40681000-40681400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:40681000-40682400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:40681000-40694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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