Variant report

Variant	rs16970633
Chromosome Location	chr15:40642877-40642878
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40616209..40618065-chr15:40641977..40644316,2	MCF-7	breast:
2	chr15:40453162..40454809-chr15:40641409..40643606,2	K562	blood:

Variant related genes	Relation type
ENSG00000259330	Chromatin interaction
ENSG00000156970	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs11636147	0.90[CEU][hapmap]
rs12905240	0.80[EUR][1000 genomes]
rs12913300	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2289328	1.00[CEU][hapmap];0.90[MEX][hapmap];0.81[EUR][1000 genomes]
rs35565646	0.88[EUR][1000 genomes]
rs35777573	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803359	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs3803360	0.87[EUR][1000 genomes]
rs56221586	0.87[EUR][1000 genomes]
rs71472433	0.94[EUR][1000 genomes]
rs7164581	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7164606	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs16970633	DISP2	cis	Skin Sun Exposed Lower leg	GTEx
rs16970633	DISP2	cis	Muscle Skeletal	GTEx
rs16970633	RP11-64K12.4	cis	Skin Sun Exposed Lower leg	GTEx
rs16970633	DISP2	cis	Nerve Tibial	GTEx
rs16970633	C15orf62	cis	parietal	SCAN
rs16970633	RP11-64K12.4	cis	Adipose Subcutaneous	GTEx
rs16970633	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs16970633	DISP2	cis	Esophagus Mucosa	GTEx
rs16970633	JMJD7-PLA2G4B	cis	parietal	SCAN
rs16970633	DISP2	cis	Esophagus Muscularis	GTEx
rs16970633	DISP2	cis	lung	GTEx
rs16970633	C15orf23	cis	cerebellum	SCAN
rs16970633	DISP2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40633600-40644800	Weak transcription	Brain Germinal Matrix	brain
2	chr15:40633600-40645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:40636400-40650000	Weak transcription	Right Atrium	heart
4	chr15:40636800-40646200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:40637200-40644800	Weak transcription	Fetal Brain Female	brain
6	chr15:40637200-40645600	Weak transcription	Brain Angular Gyrus	brain
7	chr15:40637400-40644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:40637400-40645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:40637400-40645800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:40637400-40649600	Weak transcription	Spleen	Spleen
11	chr15:40639400-40644800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:40640000-40643400	Weak transcription	Small Intestine	intestine
13	chr15:40640600-40643000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr15:40640800-40644600	Weak transcription	Fetal Brain Male	brain
15	chr15:40641200-40645800	Weak transcription	Right Ventricle	heart
16	chr15:40641400-40643400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:40641400-40646200	Weak transcription	Fetal Heart	heart
18	chr15:40641600-40643400	Enhancers	HepG2	liver
19	chr15:40641600-40649600	Weak transcription	Esophagus	oesophagus
20	chr15:40642400-40643000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr15:40642400-40643000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr15:40642400-40647000	Active TSS	Rectal Smooth Muscle	rectum
23	chr15:40642600-40643000	Enhancers	Primary hematopoietic stem cells	blood
24	chr15:40642600-40643000	Weak transcription	Gastric	stomach
25	chr15:40642600-40643400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:40642600-40643400	Enhancers	Fetal Muscle Leg	muscle
27	chr15:40642600-40645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:40642800-40643000	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr15:40642800-40643000	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr15:40642800-40643000	Flanking Active TSS	Stomach Mucosa	stomach
31	chr15:40642800-40644600	Active TSS	Colonic Mucosa	Colon

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