Variant report

Variant	rs35184
Chromosome Location	chr16:65036041-65036042
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	FOSL2	chr16:65035920-65036681	SK-N-SH	brain:	n/a	n/a
2	JUND	chr16:65035989-65036702	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr16:65035932-65036795	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr16:65036013-65036707	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr16:65035910-65036832	SK-N-SH	brain:	n/a	n/a
6	JUN	chr16:65036016-65036575	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:65036016-65036604	PFSK-1	brain:	n/a	n/a
8	PBX3	chr16:65036020-65036816	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr16:65035880-65036804	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr16:65036026-65036662	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr16:65035950-65036777	PFSK-1	brain:	n/a	n/a
12	MAFK	chr16:65035799-65036472	IMR90	lung:	n/a	chr16:65035988-65035999 chr16:65035983-65035999 chr16:65035988-65035999
13	NFIC	chr16:65035932-65036813	SK-N-SH	brain:	n/a	n/a
14	JUND	chr16:65035940-65036693	SK-N-SH	brain:	n/a	n/a
15	EP300	chr16:65035905-65036821	SK-N-SH	brain:	n/a	n/a
16	MEF2A	chr16:65035979-65036664	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr16:65035915-65036797	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1025312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10459793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11640810	0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11647164	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12708869	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs12923000	0.95[ASN][1000 genomes]
rs1540412	0.81[AMR][1000 genomes]
rs1607696	0.86[ASN][1000 genomes]
rs1826821	0.93[ASN][1000 genomes]
rs185393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280394	0.90[JPT][hapmap]
rs2331446	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2860056	0.93[ASN][1000 genomes]
rs35141	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35143	1.00[CEU][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35153	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35183	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35187	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760056	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3826240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4967879	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4967881	0.93[ASN][1000 genomes]
rs7195682	0.94[ASN][1000 genomes]
rs973199	0.96[ASN][1000 genomes]
rs9930786	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35184	RPL13AP6	trans	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:65014200-65040200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:65016200-65040200	Weak transcription	Left Ventricle	heart
4	chr16:65017200-65041800	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:65021200-65038200	Weak transcription	Brain Germinal Matrix	brain
6	chr16:65022000-65041200	Weak transcription	Fetal Heart	heart
7	chr16:65022200-65037200	Weak transcription	Fetal Intestine Large	intestine
8	chr16:65023400-65043200	Strong transcription	Fetal Lung	lung
9	chr16:65023600-65039600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:65025200-65037200	Weak transcription	Spleen	Spleen
11	chr16:65025800-65051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:65026000-65037800	Weak transcription	Aorta	Aorta
13	chr16:65026000-65038600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:65029000-65037600	Weak transcription	Fetal Kidney	kidney
15	chr16:65032200-65043400	Weak transcription	Fetal Brain Male	brain
16	chr16:65032400-65037800	Weak transcription	HMEC	breast
17	chr16:65032600-65037600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:65032600-65037600	Weak transcription	Lung	lung
19	chr16:65032600-65038400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:65032800-65037200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:65032800-65037200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:65033000-65037200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:65033800-65040400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr16:65034200-65037600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:65034600-65037200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:65034800-65037200	Weak transcription	Fetal Stomach	stomach
27	chr16:65034800-65037800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:65035000-65036400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr16:65035000-65036400	Enhancers	Brain Substantia Nigra	brain
30	chr16:65035000-65036600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:65035200-65036200	Strong transcription	Ovary	ovary
32	chr16:65035200-65036400	Enhancers	Brain Hippocampus Middle	brain
33	chr16:65035200-65036600	Enhancers	Brain Angular Gyrus	brain
34	chr16:65035200-65036600	Enhancers	Brain Anterior Caudate	brain
35	chr16:65035200-65036800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:65035200-65037000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:65035200-65037600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:65035200-65042000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:65035400-65036400	Enhancers	HSMMtube	muscle
40	chr16:65035400-65036800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:65035600-65036600	Enhancers	Brain Cingulate Gyrus	brain
42	chr16:65035600-65036600	Strong transcription	Placenta	Placenta
43	chr16:65035600-65036600	Genic enhancers	HSMM	muscle
44	chr16:65035600-65036600	Enhancers	HUVEC	blood vessel
45	chr16:65035600-65036800	Enhancers	NH-A	brain
46	chr16:65035600-65037000	Genic enhancers	Osteobl	bone
47	chr16:65035600-65037800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:65035800-65036200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:65035800-65036200	Genic enhancers	NHLF	lung
50	chr16:65035800-65036400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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