Variant report

Variant	rs7359336
Chromosome Location	chr16:69733460-69733461
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	POLR2A	chr16:69733093-69734260	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69731548..69734484-chr16:69757367..69762116,5	K562	blood:
2	chr16:69730798..69733637-chr16:69740516..69742330,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260772	TF binding region
ENSG00000181019	Chromatin interaction
ENSG00000262136	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10852461	0.80[CEU][hapmap]
rs11640319	0.83[ASW][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap]
rs12446197	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs12598642	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs12599391	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12918548	0.83[AFR][1000 genomes]
rs12924052	0.84[YRI][hapmap]
rs13330951	0.89[JPT][hapmap];0.82[MEX][hapmap]
rs1364063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap]
rs1437134	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469908	0.82[LWK][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap]
rs1500337	0.81[CEU][hapmap]
rs1566453	0.81[CEU][hapmap]
rs1566454	0.81[CEU][hapmap]
rs2017448	0.81[AFR][1000 genomes]
rs2161630	0.83[ASW][hapmap];0.87[LWK][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap]
rs2291959	0.84[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2362642	0.81[CEU][hapmap]
rs244415	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs244417	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs244418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs244420	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2917670	0.87[LWK][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap]
rs2917677	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2937121	0.84[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs3790075	0.81[CEU][hapmap]
rs3790076	0.81[CEU][hapmap]
rs3790080	0.80[CEU][hapmap]
rs3848278	0.83[ASW][hapmap];0.87[LWK][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap]
rs45488899	0.85[AFR][1000 genomes]
rs45502304	0.81[AFR][1000 genomes]
rs4633710	0.82[YRI][hapmap]
rs4783721	1.00[CEU][hapmap]
rs6499240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499244	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499263	0.81[CEU][hapmap]
rs6499268	0.81[CEU][hapmap]
rs6499270	0.81[CEU][hapmap]
rs669696	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7187634	0.83[ASW][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap]
rs7191292	0.83[ASW][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.89[YRI][hapmap]
rs7192380	0.83[ASW][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap]
rs7196842	0.81[CEU][hapmap]
rs8049728	0.83[ASW][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap]
rs8050414	0.84[CEU][hapmap]
rs8055756	0.81[ASW][hapmap];0.95[MKK][hapmap];0.89[YRI][hapmap]
rs8061052	0.89[YRI][hapmap]
rs862320	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs889398	0.96[CEU][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap]
rs889399	0.96[CEU][hapmap];0.89[JPT][hapmap]
rs9940315	0.84[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906822	chr16:69711533-69745145	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7359336	HSF4	cis	cerebellum	SCAN
rs7359336	COG8	cis	cerebellum	SCAN
rs7359336	TPPP3	cis	cerebellum	SCAN
rs7359336	DUS2L	cis	cerebellum	SCAN
rs7359336	AGRP	cis	cerebellum	SCAN
rs7359336	LCAT	cis	parietal	SCAN
rs7359336	PDXDC2P	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69701800-69739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:69704600-69737800	Strong transcription	Liver	Liver
3	chr16:69708800-69739600	Strong transcription	Placenta	Placenta
4	chr16:69709000-69739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:69709400-69755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:69709800-69737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:69710000-69737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:69715200-69737800	Strong transcription	HepG2	liver
9	chr16:69722400-69737200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr16:69722600-69734600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:69722600-69738800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:69722800-69739400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:69723600-69733800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:69723600-69736200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr16:69723800-69733800	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr16:69723800-69739200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:69724600-69738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:69724800-69736600	Strong transcription	Adipose Nuclei	Adipose
19	chr16:69725800-69734400	Strong transcription	NHLF	lung
20	chr16:69726000-69755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:69726400-69734000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:69726600-69738800	Strong transcription	HSMM	muscle
23	chr16:69726600-69759800	Weak transcription	Psoas Muscle	Psoas
24	chr16:69726800-69734600	Strong transcription	NHDF-Ad	bronchial
25	chr16:69726800-69737200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:69726800-69739000	Strong transcription	GM12878-XiMat	blood
27	chr16:69726800-69747600	Weak transcription	Fetal Heart	heart
28	chr16:69727600-69737800	Weak transcription	Right Atrium	heart
29	chr16:69728200-69746200	Weak transcription	Stomach Mucosa	stomach
30	chr16:69728200-69758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:69728400-69740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:69728400-69744200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:69728400-69748800	Weak transcription	Gastric	stomach
34	chr16:69728400-69759200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:69728600-69752000	Weak transcription	Fetal Brain Male	brain
36	chr16:69729200-69737000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:69729200-69739800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:69729200-69745000	Weak transcription	Spleen	Spleen
39	chr16:69729400-69741400	Weak transcription	Lung	lung
40	chr16:69729400-69741600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:69729400-69743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr16:69729400-69744800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:69729400-69745000	Weak transcription	Pancreas	Pancrea
44	chr16:69729400-69760000	Weak transcription	Brain Germinal Matrix	brain
45	chr16:69729400-69760000	Weak transcription	Ovary	ovary
46	chr16:69729600-69735400	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:69729600-69739200	Weak transcription	Fetal Intestine Small	intestine
48	chr16:69729600-69739200	Weak transcription	Fetal Stomach	stomach
49	chr16:69729600-69740800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:69729600-69745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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