Variant report

Variant	rs734654
Chromosome Location	chr14:78366967-78366968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr14:78366858-78367091	PFSK-1	brain:	n/a	n/a
2	JUND	chr14:78366861-78367076	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78364972..78368454-chr14:78368532..78373080,4	K562	blood:

Variant related genes	Relation type
ADCK1	TF binding region
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11159291	0.87[CHB][hapmap]
rs11159294	0.82[CHB][hapmap];0.93[GIH][hapmap]
rs11159298	0.87[CHB][hapmap]
rs11159300	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs11159301	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs11159302	0.84[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.82[TSI][hapmap]
rs11622297	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs11625833	0.81[ASN][1000 genomes]
rs12587361	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs12590199	0.92[CEU][hapmap];0.95[GIH][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12878486	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12878904	0.87[CHB][hapmap]
rs12879726	0.82[CHB][hapmap]
rs12884153	0.82[CHB][hapmap]
rs17826188	0.81[ASN][1000 genomes]
rs2003600	0.82[CHB][hapmap]
rs2010591	0.83[CHB][hapmap]
rs2080815	0.87[CHB][hapmap]
rs2080816	0.87[CHB][hapmap];0.80[CHD][hapmap]
rs2080817	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.82[TSI][hapmap]
rs2098584	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2287648	0.87[CHB][hapmap]
rs2287650	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364743	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs2364842	0.82[CHB][hapmap]
rs3783961	0.93[ASN][1000 genomes]
rs3783962	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs3783966	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.82[TSI][hapmap]
rs3783968	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs3783969	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs4359362	0.82[CHB][hapmap]
rs4393507	0.82[CHB][hapmap]
rs4899677	0.82[CHB][hapmap]
rs4899678	0.87[CHB][hapmap]
rs4903654	0.82[CHB][hapmap]
rs4903656	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.82[TSI][hapmap]
rs4903658	0.84[CEU][hapmap];0.87[CHB][hapmap]
rs4903663	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.82[TSI][hapmap]
rs4903666	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903667	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145567	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs7146020	0.83[CHB][hapmap]
rs7147735	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149884	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap]
rs7149911	0.87[CHB][hapmap]
rs7151404	0.87[CHB][hapmap]
rs719049	0.82[CHB][hapmap]
rs726538	0.82[CHB][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap]
rs741573	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs741574	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs8009433	0.87[CHB][hapmap]
rs8014296	0.87[CHB][hapmap]
rs8018963	0.93[ASN][1000 genomes]
rs877561	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs962539	0.83[CHB][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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs734654	ADCK1	cis	lymphoblastoid	seeQTL
rs734654	RPS6KL1	cis	cerebellum	SCAN

Chromatin state (count:70 , 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	chr14:78354600-78367400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:78354600-78368400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:78354600-78368600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:78354600-78375800	Weak transcription	Brain Substantia Nigra	brain
16	chr14:78354800-78379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:78354800-78391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:78355000-78374000	Weak transcription	Ovary	ovary
19	chr14:78355000-78375400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:78355000-78390800	Weak transcription	Spleen	Spleen
21	chr14:78355000-78391600	Weak transcription	Esophagus	oesophagus
22	chr14:78355200-78375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:78355400-78368400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:78355400-78370600	Weak transcription	Dnd41	blood
25	chr14:78355600-78398000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:78356000-78368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:78356000-78393600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:78356000-78398600	Weak transcription	Fetal Intestine Large	intestine
29	chr14:78356200-78390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:78356800-78368000	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:78356800-78369000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:78356800-78373800	Weak transcription	Fetal Intestine Small	intestine
33	chr14:78356800-78373800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:78356800-78399600	Weak transcription	Thymus	Thymus
35	chr14:78357000-78398600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:78358200-78373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:78358600-78368200	Weak transcription	Left Ventricle	heart
38	chr14:78359200-78399600	Weak transcription	HSMMtube	muscle
39	chr14:78359200-78399800	Weak transcription	Primary B cells from cord blood	blood
40	chr14:78359400-78384200	Weak transcription	Right Ventricle	heart
41	chr14:78359600-78369200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:78359800-78390800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:78360000-78373800	Weak transcription	Lung	lung
44	chr14:78360600-78378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:78360600-78379200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:78363600-78369200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:78363800-78369200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:78364000-78369800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:78364000-78398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:78364200-78375400	Weak transcription	Osteobl	bone

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