Variant report

Variant	rs4695918
Chromosome Location	chr4:175225452-175225453
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	EP300	chr4:175225372-175225664	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr4:175225349-175226491	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:175203651..175207123-chr4:175224363..175226517,3	MCF-7	breast:
2	chr4:175224646..175226466-chr4:175228336..175231070,2	K562	blood:
3	chr4:175204822..175207502-chr4:175223831..175226122,2	K562	blood:

Variant related genes	Relation type
CEP44	TF binding region
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11929798	0.83[AMR][1000 genomes]
rs11933187	0.83[AMR][1000 genomes]
rs11942947	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11947136	0.82[AMR][1000 genomes]
rs13101580	0.83[MEX][hapmap];0.82[AMR][1000 genomes]
rs17060455	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs17060459	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs17060468	0.89[JPT][hapmap]
rs34407356	0.83[AMR][1000 genomes]
rs34888351	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35332594	0.82[AMR][1000 genomes]
rs4695919	0.80[AMR][1000 genomes]
rs4695920	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4695921	0.82[AMR][1000 genomes]
rs7678305	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7685970	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs7699942	0.82[CHD][hapmap];0.88[JPT][hapmap]

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
rs4695918	KIAA1712	cis	parietal	SCAN
rs4695918	KIAA1712	cis	multi-tissue	Pritchard
rs4695918	CEP44	cis	Esophagus Muscularis	GTEx
rs4695918		cis	Lymphoblastoid	GTEx
rs4695918	KIAA1712	cis	cerebellum	SCAN
rs4695918	CEP44	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175205600-175241600	Weak transcription	Small Intestine	intestine
2	chr4:175206000-175235000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
4	chr4:175206400-175228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:175206600-175237800	Weak transcription	Osteobl	bone
6	chr4:175206800-175229200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:175207000-175239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:175207000-175240000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:175214200-175239200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:175214600-175226400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:175214600-175228400	Weak transcription	Left Ventricle	heart
14	chr4:175214600-175229000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:175214600-175230000	Weak transcription	Fetal Lung	lung
16	chr4:175214600-175230200	Weak transcription	Fetal Brain Male	brain
17	chr4:175214600-175233600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:175214600-175236000	Weak transcription	A549	lung
19	chr4:175214600-175237200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:175214600-175237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:175214600-175238000	Weak transcription	HMEC	breast
22	chr4:175214600-175238400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:175214600-175238800	Weak transcription	Aorta	Aorta
24	chr4:175214600-175239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:175214600-175239000	Weak transcription	HepG2	liver
26	chr4:175214600-175240000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:175214600-175240200	Weak transcription	Brain Angular Gyrus	brain
28	chr4:175214600-175240600	Weak transcription	Fetal Stomach	stomach
29	chr4:175214600-175241600	Weak transcription	Lung	lung
30	chr4:175214600-175241600	Weak transcription	Thymus	Thymus
31	chr4:175214600-175241800	Weak transcription	Pancreas	Pancrea
32	chr4:175214600-175242000	Weak transcription	Brain Substantia Nigra	brain
33	chr4:175214600-175243200	Weak transcription	Ovary	ovary
34	chr4:175214600-175244800	Weak transcription	Psoas Muscle	Psoas
35	chr4:175214600-175245400	Weak transcription	HSMM	muscle
36	chr4:175214600-175254800	Weak transcription	Esophagus	oesophagus
37	chr4:175214800-175232000	Weak transcription	NHDF-Ad	bronchial
38	chr4:175214800-175239200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:175214800-175240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:175214800-175241200	Weak transcription	Brain Anterior Caudate	brain
41	chr4:175215000-175228800	Weak transcription	Fetal Kidney	kidney
42	chr4:175215000-175235800	Weak transcription	Hela-S3	cervix
43	chr4:175215200-175241600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:175215200-175242600	Weak transcription	GM12878-XiMat	blood
45	chr4:175217600-175231000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:175217600-175232400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:175217600-175241600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr4:175217800-175240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:175218600-175242000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:175219000-175239600	Weak transcription	Fetal Brain Female	brain

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