Variant report

Variant	rs7132171
Chromosome Location	chr12:40649749-40649750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40642938-40650987..12:40793507-40812339	K562	blood:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10784444	0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10784461	0.85[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10784462	0.86[CHB][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10784470	0.89[ASN][1000 genomes]
rs10878245	0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.95[ASN][1000 genomes]
rs10878249	0.85[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10878262	0.95[ASN][1000 genomes]
rs10878405	0.80[CHB][hapmap]
rs11175769	0.85[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11175775	0.88[ASN][1000 genomes]
rs11175784	0.90[CHB][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11175787	0.89[ASN][1000 genomes]
rs11175836	0.89[ASN][1000 genomes]
rs11175845	0.86[CHB][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs11175847	0.85[CHB][hapmap];0.89[ASN][1000 genomes]
rs11175862	0.81[CHB][hapmap];0.89[ASN][1000 genomes]
rs11175911	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs11175922	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs12146857	0.81[CHB][hapmap];0.89[ASN][1000 genomes]
rs12369882	0.86[CHB][hapmap];0.81[YRI][hapmap];0.88[ASN][1000 genomes]
rs12371502	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12820920	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs1491938	0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17443815	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs17444124	0.81[CHB][hapmap]
rs17519846	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs2404580	0.91[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2404581	0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs4272849	0.82[CHB][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs4293189	0.95[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7309197	0.86[CHB][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs732374	0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7955902	0.85[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7957754	0.86[CHB][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs7962011	0.83[ASN][1000 genomes]
rs7973479	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs954884	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[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	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	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
3	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
6	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
10	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:40632000-40655200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:40633400-40654200	Weak transcription	Aorta	Aorta
15	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
17	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
18	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:40643000-40659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:40643400-40655200	Strong transcription	Primary B cells from cord blood	blood
22	chr12:40643800-40652000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:40646800-40658000	Weak transcription	A549	lung
24	chr12:40647000-40653000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:40647600-40674000	Weak transcription	Lung	lung
26	chr12:40648400-40653800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:40648600-40657600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:40648800-40659200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:40648800-40659800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:40649000-40659200	Weak transcription	Ovary	ovary
31	chr12:40649200-40650400	Weak transcription	Liver	Liver
32	chr12:40649400-40653000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:40649600-40657800	Weak transcription	Adipose Nuclei	Adipose
34	chr12:40649600-40659200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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