Variant report

Variant	rs7192865
Chromosome Location	chr16:70506907-70506908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70506833-70507041	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70487960..70489638-chr16:70506359..70508682,2	MCF-7	breast:
2	chr16:70413009..70414536-chr16:70505272..70507294,2	MCF-7	breast:
3	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:
4	chr16:70504816..70506986-chr16:70508068..70510563,2	MCF-7	breast:
5	chr16:70505499..70507933-chr16:70517566..70519175,2	MCF-7	breast:

No data

Variant related genes	Relation type
FUK	TF binding region
ENSG00000157353	Chromatin interaction
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11054	0.86[EUR][1000 genomes]
rs11645214	0.84[JPT][hapmap];0.86[LWK][hapmap]
rs12446395	0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12447090	0.85[TSI][hapmap]
rs2288491	0.82[LWK][hapmap]
rs3852695	0.92[CEU][hapmap]
rs4436771	0.80[LWK][hapmap]
rs4592653	0.84[JPT][hapmap];0.91[LWK][hapmap];0.83[YRI][hapmap]
rs7198317	0.84[JPT][hapmap];0.95[LWK][hapmap];0.83[YRI][hapmap]
rs744672	0.90[EUR][1000 genomes]
rs8051506	0.80[LWK][hapmap]
rs8053436	0.80[LWK][hapmap]
rs8062183	0.93[CEU][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv906873	chr16:70495911-70509838	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1828600	chr16:70500809-70515355	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1812578	chr16:70504305-70515355	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs7192865	RP11-296I10.6	cis	Artery Tibial	GTEx
rs7192865	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs7192865	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs7192865	EXOSC6	cis	parietal	SCAN
rs7192865	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs7192865	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs7192865	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs7192865	CLEC18A	cis	Whole Blood	GTEx
rs7192865	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs7192865	RP11-296I10.6	cis	Thyroid	GTEx
rs7192865	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs7192865	WWP2	cis	parietal	SCAN
rs7192865	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs7192865	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs7192865	EXOSC6	cis	cerebellum	SCAN
rs7192865	TMCO7	cis	parietal	SCAN
rs7192865	BMPR2	trans	parietal	SCAN
rs7192865	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7192865	CLEC18C	cis	Whole Blood	GTEx
rs7192865	RANBP10	cis	parietal	SCAN
rs7192865	RP11-296I10.6	cis	Whole Blood	GTEx
rs7192865	COG4	cis	Whole Blood	GTEx
rs7192865	CLEC18A	cis	Artery Aorta	GTEx
rs7192865	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs7192865	EXOSC6	cis	Muscle Skeletal	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:70489400-70508800	Weak transcription	HMEC	breast
3	chr16:70489400-70509000	Weak transcription	NHEK	skin
4	chr16:70489400-70509400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
13	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
14	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
16	chr16:70495200-70510200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:70495200-70510200	Weak transcription	Osteobl	bone
18	chr16:70495400-70507000	Weak transcription	Fetal Brain Female	brain
19	chr16:70495400-70508800	Weak transcription	GM12878-XiMat	blood
20	chr16:70495400-70510200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:70495400-70510200	Weak transcription	HSMM	muscle
22	chr16:70495400-70510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:70495800-70512800	Weak transcription	Right Atrium	heart
24	chr16:70497000-70507800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:70497000-70510200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr16:70497200-70510600	Strong transcription	Lung	lung
27	chr16:70498000-70510200	Weak transcription	HSMMtube	muscle
28	chr16:70498000-70510400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:70498200-70507400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:70498200-70507400	Weak transcription	Fetal Thymus	thymus
31	chr16:70498200-70508200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:70498200-70509200	Weak transcription	NHLF	lung
33	chr16:70498200-70510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:70498200-70511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
36	chr16:70498800-70507200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:70499200-70507200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:70499200-70507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:70499200-70510800	Weak transcription	Primary B cells from cord blood	blood
40	chr16:70499400-70507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:70499400-70510600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr16:70501000-70510400	Weak transcription	Fetal Lung	lung
43	chr16:70501200-70507000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
45	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
46	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
47	chr16:70501800-70507400	Weak transcription	Brain Germinal Matrix	brain
48	chr16:70501800-70510200	Weak transcription	Psoas Muscle	Psoas
49	chr16:70502400-70509800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:70502800-70510800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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