Variant report

Variant	rs4695920
Chromosome Location	chr4:175234130-175234131
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	chr4:175203956..175205751-chr4:175232556..175234704,2	K562	blood:

Variant related genes	Relation type
ENSG00000164117	Chromatin interaction
ENSG00000164118	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11942947	0.81[AMR][1000 genomes]
rs13101580	0.81[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]
rs34888351	0.83[AMR][1000 genomes]
rs4695918	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]
rs4695919	0.82[AMR][1000 genomes]
rs4695921	0.81[AMR][1000 genomes]
rs7678305	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4695920	KIAA1712	cis	cerebellum	SCAN
rs4695920	CEP44	cis	Nerve Tibial	GTEx
rs4695920	CEP44	cis	Esophagus Muscularis	GTEx
rs4695920	CEP44	cis	Thyroid	GTEx
rs4695920	KIAA1712	cis	parietal	SCAN
rs4695920	KIAA1712	cis	multi-tissue	Pritchard

Chromatin state (count:102 , 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	chr4:175206600-175237800	Weak transcription	Osteobl	bone
5	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:175207000-175239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:175207000-175240000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:175214200-175239200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:175214600-175236000	Weak transcription	A549	lung
11	chr4:175214600-175237200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:175214600-175237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:175214600-175238000	Weak transcription	HMEC	breast
14	chr4:175214600-175238400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:175214600-175238800	Weak transcription	Aorta	Aorta
16	chr4:175214600-175239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:175214600-175239000	Weak transcription	HepG2	liver
18	chr4:175214600-175240000	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:175214600-175240200	Weak transcription	Brain Angular Gyrus	brain
20	chr4:175214600-175240600	Weak transcription	Fetal Stomach	stomach
21	chr4:175214600-175241600	Weak transcription	Lung	lung
22	chr4:175214600-175241600	Weak transcription	Thymus	Thymus
23	chr4:175214600-175241800	Weak transcription	Pancreas	Pancrea
24	chr4:175214600-175242000	Weak transcription	Brain Substantia Nigra	brain
25	chr4:175214600-175243200	Weak transcription	Ovary	ovary
26	chr4:175214600-175244800	Weak transcription	Psoas Muscle	Psoas
27	chr4:175214600-175245400	Weak transcription	HSMM	muscle
28	chr4:175214600-175254800	Weak transcription	Esophagus	oesophagus
29	chr4:175214800-175239200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:175214800-175240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:175214800-175241200	Weak transcription	Brain Anterior Caudate	brain
32	chr4:175215000-175235800	Weak transcription	Hela-S3	cervix
33	chr4:175215200-175241600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:175215200-175242600	Weak transcription	GM12878-XiMat	blood
35	chr4:175217600-175241600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:175217800-175240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:175218600-175242000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:175219000-175239600	Weak transcription	Fetal Brain Female	brain
39	chr4:175219000-175242800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:175219400-175235800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr4:175219600-175235600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr4:175219600-175237800	Weak transcription	HUVEC	blood vessel
43	chr4:175220000-175234600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:175221400-175239200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:175221600-175240600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:175222400-175242000	Weak transcription	Fetal Intestine Small	intestine
47	chr4:175222600-175241400	Weak transcription	Spleen	Spleen
48	chr4:175224400-175234600	Strong transcription	Fetal Thymus	thymus
49	chr4:175225000-175237600	Weak transcription	NH-A	brain
50	chr4:175225400-175241800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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