Variant report

Variant	rs17357120
Chromosome Location	chr4:175157743-175157744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175150650..175152595-chr4:175157441..175159670,2	K562	blood:
2	chr4:175157690..175159437-chr4:175203129..175205248,2	MCF-7	breast:
3	chr4:175157100..175158801-chr4:175165642..175167350,2	K562	blood:

Variant related genes	Relation type
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10520275	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11929798	0.92[CEU][hapmap]
rs11933187	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs11942947	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs11944262	1.00[CHB][hapmap]
rs11947136	0.81[EUR][1000 genomes]
rs13101580	0.89[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap]
rs13124698	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13128257	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1508222	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17291087	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs17291128	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs17291408	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1876515	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2332836	0.96[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34407356	0.81[EUR][1000 genomes]
rs34888351	0.89[EUR][1000 genomes]
rs35332594	0.80[EUR][1000 genomes]
rs35622584	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41279509	0.86[ASN][1000 genomes]
rs4287982	1.00[CHB][hapmap]
rs4695915	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4695919	0.89[CEU][hapmap]
rs4695922	0.80[CEU][hapmap]
rs6553777	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6824643	1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.86[ASN][1000 genomes]
rs6851312	1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.86[ASN][1000 genomes]
rs7661236	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7669484	1.00[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17357120	KIAA1712	Cis_1M	lymphoblastoid	RTeQTL
rs17357120	KIAA1712	cis	cerebellum	SCAN
rs17357120	KIAA1712	cis	parietal	SCAN
rs17357120	KIAA1712	cis	multi-tissue	Pritchard
rs17357120	CEP44	cis	Esophagus Muscularis	GTEx
rs17357120	CEP44	cis	Thyroid	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175146600-175158000	Weak transcription	Placenta	Placenta
2	chr4:175147000-175163000	Weak transcription	Fetal Stomach	stomach
3	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
4	chr4:175149200-175158400	Weak transcription	Fetal Intestine Large	intestine
5	chr4:175149600-175158000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:175151000-175163200	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:175151600-175158400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:175151600-175162600	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:175151800-175158000	Weak transcription	Primary B cells from cord blood	blood
11	chr4:175151800-175169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
13	chr4:175152000-175158400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:175152000-175158400	Weak transcription	Left Ventricle	heart
15	chr4:175152000-175165400	Weak transcription	NHDF-Ad	bronchial
16	chr4:175152400-175162000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:175152600-175169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:175152600-175176400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:175153000-175158200	Weak transcription	Fetal Lung	lung
20	chr4:175153000-175158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:175153000-175174200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:175153200-175158200	Weak transcription	Pancreas	Pancrea
23	chr4:175153200-175169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:175153200-175174600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:175153200-175184000	Weak transcription	Lung	lung
26	chr4:175153400-175160000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:175153800-175158200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:175153800-175158200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:175154200-175161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
32	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
33	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:175154400-175202400	Weak transcription	Gastric	stomach
35	chr4:175154600-175158200	Weak transcription	GM12878-XiMat	blood
36	chr4:175154800-175159200	Weak transcription	Thymus	Thymus
37	chr4:175155400-175158200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:175155400-175158200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:175155400-175166800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
41	chr4:175155600-175177000	Weak transcription	Fetal Kidney	kidney
42	chr4:175155600-175178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:175155800-175158200	Weak transcription	Ovary	ovary
44	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
45	chr4:175156000-175158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:175156200-175158000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:175156200-175161200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:175156200-175162800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:175156200-175169600	Weak transcription	HSMMtube	muscle
50	chr4:175156200-175174400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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