Variant report

Variant	rs6792156
Chromosome Location	chr3:48654938-48654939
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	chr3:48645526..48649899-chr3:48652582..48656275,6	K562	blood:
2	chr3:48647850..48649899-chr3:48653593..48656321,2	K562	blood:

Variant related genes	Relation type
ENSG00000010256	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1003649	1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs10470687	0.90[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs11706983	1.00[GIH][hapmap]
rs11708786	1.00[GIH][hapmap]
rs11713694	0.83[GIH][hapmap]
rs11719291	1.00[GIH][hapmap]
rs12107252	0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12107418	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs13060933	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13063312	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13070798	0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs13074318	0.83[GIH][hapmap]
rs13076269	0.83[ASN][1000 genomes]
rs13091944	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13096357	0.83[ASN][1000 genomes]
rs13319635	0.88[ASN][1000 genomes]
rs13319651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13324142	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13434258	1.00[GIH][hapmap]
rs17080289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[ASN][1000 genomes]
rs2006871	0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2255532	0.82[CHB][hapmap]
rs2276850	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2276852	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2286652	0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2302295	1.00[JPT][hapmap]
rs2310996	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2310997	0.82[ASN][1000 genomes]
rs2854394	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2854395	0.91[ASN][1000 genomes]
rs28563843	0.82[ASN][1000 genomes]
rs28581474	0.89[ASN][1000 genomes]
rs34037363	0.83[GIH][hapmap]
rs34107861	0.80[CHD][hapmap]
rs34368826	0.84[ASN][1000 genomes]
rs34638686	0.81[ASN][1000 genomes]
rs35064573	1.00[GIH][hapmap]
rs35343040	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35562294	0.86[ASN][1000 genomes]
rs35796820	0.94[ASN][1000 genomes]
rs3755819	0.86[ASN][1000 genomes]
rs3806694	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3821875	1.00[JPT][hapmap]
rs3821876	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3969942	0.81[CHD][hapmap];0.83[GIH][hapmap]
rs57334642	0.84[ASN][1000 genomes]
rs6773261	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6781283	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6792525	0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs6806059	0.90[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[ASN][1000 genomes]
rs740787	0.82[ASW][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7428949	1.00[JPT][hapmap]
rs7620853	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7631574	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9810549	0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9810991	0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs9811318	0.88[ASW][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9812200	0.82[ASW][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9814951	0.80[CHB][hapmap]
rs9821797	1.00[JPT][hapmap]
rs9830581	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9836462	0.94[ASW][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9837687	0.90[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9841602	0.94[ASW][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9843316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9848824	0.82[ASN][1000 genomes]
rs9849280	0.82[ASN][1000 genomes]
rs9850102	0.90[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9851771	0.83[GIH][hapmap]
rs9864729	0.82[ASN][1000 genomes]
rs9868809	0.80[CHD][hapmap];0.83[GIH][hapmap]
rs9869698	0.90[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs9871180	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9873726	1.00[JPT][hapmap]
rs9875911	0.83[GIH][hapmap]
rs9878063	0.84[ASN][1000 genomes]
rs9878950	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs9881877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs9882549	1.00[GIH][hapmap]
rs9882962	0.81[CHD][hapmap];0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48648400-48661200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:48649000-48672000	Weak transcription	Fetal Brain Male	brain
3	chr3:48651800-48662400	Weak transcription	NHLF	lung
4	chr3:48653400-48655400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:48653400-48656600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:48653400-48656600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:48653400-48656600	ZNF genes & repeats	Dnd41	blood
8	chr3:48653600-48656200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr3:48654200-48656200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr3:48654400-48655400	ZNF genes & repeats	Colonic Mucosa	Colon
11	chr3:48654400-48655400	ZNF genes & repeats	HepG2	liver
12	chr3:48654400-48655400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr3:48654400-48655600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:48654400-48655600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:48654400-48656000	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr3:48654600-48655000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:48654600-48655200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr3:48654600-48655200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
19	chr3:48654600-48655200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:48654600-48655200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
21	chr3:48654600-48655400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:48654600-48655400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:48654600-48655400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr3:48654600-48655400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
25	chr3:48654600-48655800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr3:48654600-48655800	ZNF genes & repeats	Placenta	Placenta
27	chr3:48654600-48656000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr3:48654600-48656400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:48654600-48656400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr3:48654600-48656800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr3:48654800-48655000	ZNF genes & repeats	Gastric	stomach
32	chr3:48654800-48655200	ZNF genes & repeats	Spleen	Spleen
33	chr3:48654800-48655400	ZNF genes & repeats	Esophagus	oesophagus
34	chr3:48654800-48656000	ZNF genes & repeats	Brain Germinal Matrix	brain

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