Variant report

Variant	rs12433276
Chromosome Location	chr14:78368610-78368611
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
ENSG00000063761	Chromatin interaction
ENSG00000136059	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10145976	0.86[CHD][hapmap]
rs10151830	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs10483887	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1108723	0.84[CEU][hapmap]
rs11159296	0.88[ASN][1000 genomes]
rs11628161	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12433254	0.84[CEU][hapmap]
rs12433306	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12435231	0.84[CEU][hapmap]
rs17106419	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106425	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106489	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106503	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106513	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs17106514	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106518	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106524	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106532	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs17106537	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106552	1.00[CHB][hapmap];1.00[CHD][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];0.93[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2287649	1.00[CHB][hapmap];0.82[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];0.93[CHD][hapmap]
rs3783965	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs3783975	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs3825690	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs56056525	1.00[ASN][1000 genomes]
rs57241351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60752295	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61166317	0.85[ASN][1000 genomes]
rs61990723	0.88[ASN][1000 genomes]
rs7140153	0.93[ASN][1000 genomes]
rs7146747	0.84[CEU][hapmap]
rs7156202	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs8008106	0.93[ASN][1000 genomes]
rs8009834	0.83[LWK][hapmap];0.90[MKK][hapmap]
rs8017520	1.00[ASW][hapmap];0.84[CEU][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs874024	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs874434	1.00[CHB][hapmap];1.00[CHD][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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12433276	ADCK1	cis	lymphoblastoid	seeQTL
rs12433276	FCF1	cis	parietal	SCAN
rs12433276	ALKBH1	cis	parietal	SCAN
rs12433276	PSEN1	cis	parietal	SCAN
rs12433276	ADCK1	cis	multi-tissue	Pritchard
rs12433276	ADCK1	cis	cerebellum	SCAN

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	chr14:78354600-78375800	Weak transcription	Brain Substantia Nigra	brain
13	chr14:78354800-78379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:78354800-78391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:78355000-78374000	Weak transcription	Ovary	ovary
16	chr14:78355000-78375400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:78355000-78390800	Weak transcription	Spleen	Spleen
18	chr14:78355000-78391600	Weak transcription	Esophagus	oesophagus
19	chr14:78355200-78375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:78355400-78370600	Weak transcription	Dnd41	blood
21	chr14:78355600-78398000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:78356000-78368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:78356000-78393600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:78356000-78398600	Weak transcription	Fetal Intestine Large	intestine
25	chr14:78356200-78390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:78356800-78369000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:78356800-78373800	Weak transcription	Fetal Intestine Small	intestine
28	chr14:78356800-78373800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:78356800-78399600	Weak transcription	Thymus	Thymus
30	chr14:78357000-78398600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:78358200-78373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:78359200-78399600	Weak transcription	HSMMtube	muscle
33	chr14:78359200-78399800	Weak transcription	Primary B cells from cord blood	blood
34	chr14:78359400-78384200	Weak transcription	Right Ventricle	heart
35	chr14:78359600-78369200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:78359800-78390800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:78360000-78373800	Weak transcription	Lung	lung
38	chr14:78360600-78378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:78360600-78379200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:78363600-78369200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:78363800-78369200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:78364000-78369800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:78364000-78398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:78364200-78375400	Weak transcription	Osteobl	bone
45	chr14:78364600-78370000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:78365200-78368800	Weak transcription	Brain Germinal Matrix	brain
47	chr14:78365200-78369200	Weak transcription	Fetal Thymus	thymus
48	chr14:78365200-78371000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:78365400-78369200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:78365600-78369400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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