Variant report

Variant	rs12433306
Chromosome Location	chr14:78368540-78368541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78367251..78369822-chr3:38040138..38042954,2	MCF-7	breast:
2	chr14:78367280..78368846-chr14:78373706..78376424,2	K562	blood:

Variant related genes	Relation type
ENSG00000136059	Chromatin interaction
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10151830	1.00[CHB][hapmap]
rs10483887	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11159296	0.88[ASN][1000 genomes]
rs11628161	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12433276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106419	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106425	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106489	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106503	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106513	1.00[CHB][hapmap]
rs17106514	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106518	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106524	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106532	1.00[CHB][hapmap]
rs17106537	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106552	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106579	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106585	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2287647	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2287649	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs2364740	1.00[CHB][hapmap]
rs2886169	0.90[ASN][1000 genomes]
rs3783956	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3783958	1.00[ASN][1000 genomes]
rs3783963	1.00[CHB][hapmap]
rs3783965	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs3783975	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs3825690	1.00[CHB][hapmap]
rs56056525	1.00[ASN][1000 genomes]
rs57241351	1.00[ASN][1000 genomes]
rs58330719	0.94[AFR][1000 genomes]
rs61166317	0.85[ASN][1000 genomes]
rs61990723	0.88[ASN][1000 genomes]
rs7140153	0.93[ASN][1000 genomes]
rs7156202	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs8008106	0.93[ASN][1000 genomes]
rs874024	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs874434	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv565233	chr14:78366967-78390880	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
2	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:78349400-78378000	Weak transcription	Fetal Brain Female	brain
6	chr14:78350800-78375800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:78350800-78376200	Weak transcription	Brain Angular Gyrus	brain
8	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:78354000-78375800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:78354000-78375800	Weak transcription	Gastric	stomach
11	chr14:78354400-78374400	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:78354600-78368600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:78354600-78375800	Weak transcription	Brain Substantia Nigra	brain
14	chr14:78354800-78379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:78354800-78391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:78355000-78374000	Weak transcription	Ovary	ovary
17	chr14:78355000-78375400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:78355000-78390800	Weak transcription	Spleen	Spleen
19	chr14:78355000-78391600	Weak transcription	Esophagus	oesophagus
20	chr14:78355200-78375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:78355400-78370600	Weak transcription	Dnd41	blood
22	chr14:78355600-78398000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:78356000-78368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:78356000-78393600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:78356000-78398600	Weak transcription	Fetal Intestine Large	intestine
26	chr14:78356200-78390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:78356800-78369000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:78356800-78373800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:78356800-78373800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:78356800-78399600	Weak transcription	Thymus	Thymus
31	chr14:78357000-78398600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:78358200-78373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:78359200-78399600	Weak transcription	HSMMtube	muscle
34	chr14:78359200-78399800	Weak transcription	Primary B cells from cord blood	blood
35	chr14:78359400-78384200	Weak transcription	Right Ventricle	heart
36	chr14:78359600-78369200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:78359800-78390800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:78360000-78373800	Weak transcription	Lung	lung
39	chr14:78360600-78378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:78360600-78379200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:78363600-78369200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:78363800-78369200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:78364000-78369800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:78364000-78398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:78364200-78375400	Weak transcription	Osteobl	bone
46	chr14:78364600-78370000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:78365200-78368800	Weak transcription	Brain Germinal Matrix	brain
48	chr14:78365200-78369200	Weak transcription	Fetal Thymus	thymus
49	chr14:78365200-78371000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:78365400-78369200	Strong transcription	Rectal Mucosa Donor 29	rectum

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