Variant report

Variant	rs2404834
Chromosome Location	chr12:40729007-40729008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10506152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11175780	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11564129	1.00[GIH][hapmap]
rs11564149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11564150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs11564180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1388599	1.00[CHB][hapmap]
rs1529376	0.81[YRI][hapmap]
rs17444089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17444306	0.88[EUR][1000 genomes]
rs17444709	0.83[CEU][hapmap]
rs17466080	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17466178	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17466486	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17466521	1.00[JPT][hapmap]
rs17466626	1.00[CHB][hapmap]
rs17491082	0.81[YRI][hapmap]
rs17491473	0.81[YRI][hapmap]
rs17520459	0.81[YRI][hapmap]
rs2046928	1.00[CHB][hapmap]
rs33962975	0.88[EUR][1000 genomes]
rs41286474	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4423250	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4768239	0.88[EUR][1000 genomes]
rs7132073	0.85[ASN][1000 genomes]
rs73107108	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73107149	0.80[EUR][1000 genomes]
rs7971935	1.00[CHB][hapmap];1.00[JPT][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	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:40674400-40760400	Weak transcription	Lung	lung
4	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40712000-40736600	Weak transcription	Left Ventricle	heart
7	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
8	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
10	chr12:40719600-40735200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:40721000-40734000	Weak transcription	Esophagus	oesophagus
12	chr12:40722400-40730800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:40722400-40736200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:40722600-40730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:40724000-40731600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:40724200-40729600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:40724200-40731400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:40724600-40745400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:40724800-40729600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:40724800-40751000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:40725000-40730000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:40725000-40736200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:40725000-40739200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:40725200-40732200	Strong transcription	Liver	Liver
26	chr12:40725200-40733200	Strong transcription	Primary B cells from cord blood	blood
27	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
28	chr12:40725400-40731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:40726000-40730200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:40726000-40734800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:40726200-40734600	Weak transcription	HMEC	breast
32	chr12:40726200-40766600	Weak transcription	A549	lung
33	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:40726600-40729800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:40727400-40730000	Strong transcription	Spleen	Spleen
36	chr12:40727400-40731600	Weak transcription	Right Ventricle	heart
37	chr12:40727800-40730400	Weak transcription	Fetal Stomach	stomach
38	chr12:40728400-40729800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:40728600-40729800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:40728600-40730200	Strong transcription	Colon Smooth Muscle	Colon
41	chr12:40728600-40730400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:40728600-40732000	Strong transcription	Adipose Nuclei	Adipose
43	chr12:40728800-40730000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:40729000-40729600	Strong transcription	Ovary	ovary

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