Variant report

Variant	rs17443421
Chromosome Location	chr12:40644785-40644786
allele	G/T
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:
2	chr1:153939261..153941119-chr12:40643887..40646371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143570	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11564113	1.00[JPT][hapmap]
rs11613829	1.00[JPT][hapmap]
rs17442346	1.00[JPT][hapmap]
rs17442353	1.00[JPT][hapmap]
rs17442490	1.00[JPT][hapmap]
rs17442882	1.00[JPT][hapmap]
rs17443552	1.00[JPT][hapmap]
rs17444103	1.00[JPT][hapmap]
rs17444542	1.00[JPT][hapmap]
rs17458257	1.00[JPT][hapmap]
rs17458745	1.00[JPT][hapmap]
rs17458773	1.00[JPT][hapmap]
rs17458974	1.00[JPT][hapmap]
rs17460992	1.00[JPT][hapmap]
rs17465716	1.00[JPT][hapmap]
rs17465849	1.00[JPT][hapmap]
rs17465891	1.00[JPT][hapmap]
rs17466030	1.00[JPT][hapmap]
rs17466220	1.00[JPT][hapmap]
rs17466269	1.00[JPT][hapmap]
rs17466297	1.00[JPT][hapmap]
rs17466339	1.00[JPT][hapmap]
rs17466451	1.00[JPT][hapmap]
rs17466633	1.00[JPT][hapmap]
rs17483502	1.00[JPT][hapmap]
rs17489459	1.00[JPT][hapmap]
rs17489480	1.00[JPT][hapmap]
rs17489666	1.00[JPT][hapmap]
rs17490013	1.00[JPT][hapmap]
rs17490578	1.00[JPT][hapmap]
rs17490620	1.00[JPT][hapmap]
rs17490762	1.00[JPT][hapmap]
rs17491110	1.00[JPT][hapmap]
rs17491410	1.00[JPT][hapmap]
rs17492138	1.00[JPT][hapmap]
rs17518183	1.00[JPT][hapmap]
rs17518427	1.00[JPT][hapmap]
rs17518441	1.00[JPT][hapmap]
rs17518476	1.00[JPT][hapmap]
rs17518672	1.00[JPT][hapmap]
rs17518735	1.00[JPT][hapmap]
rs17519797	1.00[JPT][hapmap]
rs17520634	1.00[JPT][hapmap]
rs17520655	1.00[JPT][hapmap]
rs28365202	1.00[JPT][hapmap]
rs28365243	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv976731	chr12:40642561-40646732	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	esv3362457	chr12:40644629-40645090	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 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	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
7	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
11	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:40631200-40646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:40632000-40655200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:40633400-40646600	Weak transcription	Ovary	ovary
17	chr12:40633400-40654200	Weak transcription	Aorta	Aorta
18	chr12:40635000-40647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:40635000-40647400	Weak transcription	Lung	lung
20	chr12:40635200-40648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:40636200-40648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:40636200-40648200	Weak transcription	NHDF-Ad	bronchial
23	chr12:40637400-40647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
26	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
27	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:40642800-40645600	Weak transcription	A549	lung
30	chr12:40643000-40647400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:40643000-40659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:40643400-40655200	Strong transcription	Primary B cells from cord blood	blood
33	chr12:40643600-40646800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:40643600-40647400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:40643600-40649200	Strong transcription	Liver	Liver
36	chr12:40643800-40645000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:40643800-40652000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:40644600-40645200	Weak transcription	Brain Angular Gyrus	brain
39	chr12:40644600-40645400	Weak transcription	Adipose Nuclei	Adipose
40	chr12:40644600-40646400	Weak transcription	Gastric	stomach
41	chr12:40644600-40648200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:40644600-40648600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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