Variant report

Variant	rs796555
Chromosome Location	chr4:48636595-48636596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48635131..48636662-chr4:48655697..48657913,2	K562	blood:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10030853	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10031777	0.80[EUR][1000 genomes]
rs10049761	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs10938534	0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs10938537	0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11728565	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11734019	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11737677	0.87[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11933919	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11943219	0.82[EUR][1000 genomes]
rs11945562	0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs12506098	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12645501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13108474	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13119041	0.87[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs13119504	0.80[EUR][1000 genomes]
rs13127730	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13138269	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13141523	0.81[CEU][hapmap]
rs13142540	1.00[JPT][hapmap]
rs13151534	0.81[ASN][1000 genomes]
rs1507862	0.80[EUR][1000 genomes]
rs1507865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517674	1.00[JPT][hapmap]
rs1554256	0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs16861510	0.83[YRI][hapmap]
rs1702798	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1712767	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1712768	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1712772	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17575720	0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17656010	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17656040	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17656076	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17656094	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1876469	0.87[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1980193	0.80[EUR][1000 genomes]
rs2089503	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2102397	0.87[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap]
rs2176460	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[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]
rs2354312	0.83[EUR][1000 genomes]
rs2354314	0.81[EUR][1000 genomes]
rs2354348	0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2354938	0.82[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs28470767	0.87[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28733443	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2940324	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945330	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3107022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34558821	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34635008	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4536901	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];0.90[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4694906	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap]
rs4695391	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[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];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4695397	0.85[EUR][1000 genomes]
rs4695400	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4695401	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59686413	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62311296	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6447640	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6447645	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6447647	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6447655	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6811148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6818954	0.83[EUR][1000 genomes]
rs6819159	0.80[EUR][1000 genomes]
rs6829144	0.86[AMR][1000 genomes]
rs6829716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6830848	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6836632	0.87[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap]
rs6843340	0.83[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6855022	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6856448	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7654770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7657332	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs7657698	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7660206	0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs7661515	0.80[EUR][1000 genomes]
rs7665209	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[GIH][hapmap]
rs7667288	0.87[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7678379	0.87[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs7679210	0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7680280	0.84[EUR][1000 genomes]
rs7681070	0.83[EUR][1000 genomes]
rs7683398	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7693461	0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7697522	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs7697851	0.87[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs776584	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776588	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs776590	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776601	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs776602	0.85[YRI][hapmap]
rs937888	1.00[ASW][hapmap];0.96[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];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs937889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952289	0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs955683	0.80[EUR][1000 genomes]
rs9790336	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9884546	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs992423	0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][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	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs796555	OCIAD2	cis	multi-tissue	Pritchard
rs796555	OCIAD2	cis	cerebellum	SCAN
rs796555	OCIAD2	cis	lymphoblastoid	seeQTL
rs796555	SLC10A4	cis	lung	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
3	chr4:48578600-48637000	Weak transcription	Esophagus	oesophagus
4	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:48594000-48637400	Weak transcription	Spleen	Spleen
6	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:48606800-48637800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:48606800-48645000	Weak transcription	Gastric	stomach
9	chr4:48609800-48637000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:48614600-48637000	Weak transcription	Small Intestine	intestine
11	chr4:48620200-48637000	Weak transcription	Fetal Lung	lung
12	chr4:48620200-48637400	Weak transcription	Pancreas	Pancrea
13	chr4:48620200-48644800	Weak transcription	Fetal Stomach	stomach
14	chr4:48621200-48637200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:48621200-48642400	Weak transcription	Fetal Heart	heart
16	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
17	chr4:48621800-48637400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:48621800-48642200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:48621800-48645000	Weak transcription	Lung	lung
20	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
21	chr4:48622800-48637000	Weak transcription	Adipose Nuclei	Adipose
22	chr4:48622800-48637600	Weak transcription	Liver	Liver
23	chr4:48622800-48644800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:48622800-48648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:48623200-48637000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:48623200-48637000	Weak transcription	Psoas Muscle	Psoas
27	chr4:48623200-48637000	Weak transcription	GM12878-XiMat	blood
28	chr4:48623200-48637400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:48623200-48637600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:48623200-48638200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:48623400-48637400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:48623400-48644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:48623600-48637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:48623600-48637000	Weak transcription	HMEC	breast
35	chr4:48623600-48637400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:48624400-48637000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:48624600-48637000	Weak transcription	NHEK	skin
38	chr4:48625800-48642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:48626600-48638200	Weak transcription	HepG2	liver
40	chr4:48627000-48637000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:48627200-48636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:48627200-48637000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:48627200-48637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:48627200-48645000	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:48627200-48652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:48627200-48656400	Weak transcription	Fetal Intestine Small	intestine
47	chr4:48627600-48637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:48627800-48637000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:48627800-48637600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:48630400-48637600	Strong transcription	Rectal Mucosa Donor 31	rectum

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