Variant report

Variant	rs2791333
Chromosome Location	chr6:28111114-28111115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
2	chr6:28110255..28111827-chr6:28288667..28290240,2	K562	blood:
3	chr6:28109265..28112090-chr6:28302311..28305142,2	MCF-7	breast:
4	chr6:28103055..28111556-chr6:28296771..28308203,17	K562	blood:
5	chr6:27791730..27793405-chr6:28109237..28111401,3	K562	blood:
6	chr6:28109577..28112061-chr6:28128257..28130394,3	MCF-7	breast:
7	chr6:28109524..28111212-chr6:28366058..28368601,2	K562	blood:
8	chr6:27776967..27779185-chr6:28109334..28112184,3	K562	blood:
9	chr6:28109689..28111250-chr6:28315546..28317991,2	K562	blood:
10	chr6:28091137..28098786-chr6:28103559..28111884,14	MCF-7	breast:
11	chr6:28044713..28049958-chr6:28107484..28111355,5	K562	blood:
12	chr6:28108043..28113786-chr6:28190485..28194607,10	K562	blood:
13	chr6:27791848..27794229-chr6:28109901..28113080,3	K562	blood:
14	chr6:28109506..28111867-chr6:28218476..28220389,2	K562	blood:
15	chr6:28108695..28111169-chr6:28321228..28323056,2	K562	blood:
16	chr6:28108272..28111912-chr6:28184259..28187979,3	MCF-7	breast:
17	chr6:28109157..28111504-chr6:28323298..28325916,3	K562	blood:
18	chr6:28102723..28113786-chr6:28183725..28194756,41	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197238	Chromatin interaction
ENSG00000272009	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000196812	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000197279	Chromatin interaction
ENSG00000226314	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1150668	0.93[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1150670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1150679	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1150686	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1150690	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1150691	0.80[CEU][hapmap]
rs1150694	0.82[JPT][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150705	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1150707	0.90[ASW][hapmap];0.96[CEU][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1150709	0.96[CEU][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1150711	0.83[CHD][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs1150716	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1150724	0.81[ASW][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap]
rs1150726	0.81[ASW][hapmap];0.81[CHD][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap]
rs12214383	0.90[ASW][hapmap];0.85[CEU][hapmap];0.83[CHD][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.89[AFR][1000 genomes]
rs1225618	1.00[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1225710	0.90[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1225715	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233660	0.86[AFR][1000 genomes]
rs1233713	0.96[CEU][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13408	0.90[ASW][hapmap];0.85[CEU][hapmap];0.83[CHD][hapmap];0.97[MKK][hapmap];0.86[TSI][hapmap];0.96[AFR][1000 genomes]
rs149956	0.96[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs149963	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs149971	0.90[ASW][hapmap];0.96[CEU][hapmap];0.84[CHD][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap]
rs149976	0.90[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes]
rs1531681	0.90[ASW][hapmap];0.85[CEU][hapmap];0.83[CHD][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.89[AFR][1000 genomes]
rs156737	0.85[AFR][1000 genomes]
rs1654774	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1736891	0.90[ASW][hapmap];0.96[CEU][hapmap];0.83[CHD][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1736895	0.90[ASW][hapmap];0.85[CEU][hapmap];0.83[CHD][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.89[AFR][1000 genomes]
rs1778484	0.81[ASW][hapmap];0.81[CHD][hapmap];0.94[MKK][hapmap];0.80[TSI][hapmap]
rs1997660	0.81[ASW][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs2021826	0.81[CHB][hapmap];0.82[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs203869	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs203878	0.90[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs213240	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2142730	0.96[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2394049	0.89[AFR][1000 genomes]
rs2622320	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2622322	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713158	0.83[AMR][1000 genomes]
rs707907	0.81[ASW][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes]
rs7206	0.81[ASW][hapmap];0.96[CEU][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs853683	0.81[ASW][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs853684	0.90[ASW][hapmap];0.96[CEU][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs853690	0.81[ASW][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs853693	0.81[ASW][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes]
rs9301	0.90[ASW][hapmap];0.92[CEU][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9468333	0.81[ASW][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes]

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs2791333	ZSCAN31	cis	Thyroid	GTEx
rs2791333	AL022393.7	cis	Muscle Skeletal	GTEx
rs2791333	RP5-874C20.3	cis	Thyroid	GTEx
rs2791333	RP5-874C20.3	cis	Nerve Tibial	GTEx
rs2791333	ZSCAN23	cis	Muscle Skeletal	GTEx
rs2791333	AL022393.7	cis	Heart Left Ventricle	GTEx
rs2791333	ZNF323	cis	Temporal Cortex	GTEx
rs2791333	ZSCAN31	cis	Esophagus Muscularis	GTEx
rs2791333	AL022393.7	cis	Nerve Tibial	GTEx
rs2791333	ZSCAN31	cis	lung	GTEx
rs2791333	AL022393.7	cis	lung	GTEx
rs2791333	ZSCAN23	cis	Artery Tibial	GTEx
rs2791333	ZSCAN23	cis	lung	GTEx
rs2791333	RP5-874C20.3	cis	Esophagus Muscularis	GTEx
rs2791333	ZNF323	cis	Frontal Cortex	GTEx
rs2791333	AL022393.7	cis	Artery Aorta	GTEx
rs2791333	ZNF323	cis	Cerebellum	GTEx
rs2791333	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs2791333	AL022393.7	cis	Esophagus Muscularis	GTEx
rs2791333	AL022393.7	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28109000-28111400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:28109200-28111200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:28109200-28111200	Active TSS	Psoas Muscle	Psoas
4	chr6:28109200-28112000	Active TSS	Aorta	Aorta
5	chr6:28109400-28111200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:28110000-28111400	Active TSS	Right Atrium	heart
7	chr6:28110000-28116200	Weak transcription	Spleen	Spleen
8	chr6:28110200-28111200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:28110200-28111200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:28110200-28111200	Flanking Active TSS	Fetal Brain Male	brain
11	chr6:28110200-28113000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:28110200-28115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:28110200-28115800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:28110200-28116000	Weak transcription	Lung	lung
15	chr6:28110200-28116200	Weak transcription	Esophagus	oesophagus
16	chr6:28110200-28116200	Weak transcription	Gastric	stomach
17	chr6:28110200-28116200	Weak transcription	Pancreas	Pancrea
18	chr6:28110200-28116200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:28110200-28120800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:28110400-28111200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:28110400-28111200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:28110400-28111200	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:28110400-28111200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr6:28110400-28111200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr6:28110400-28111200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:28110400-28111200	Flanking Active TSS	Fetal Lung	lung
27	chr6:28110400-28111200	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr6:28110400-28111200	Flanking Active TSS	Dnd41	blood
29	chr6:28110400-28111200	Flanking Active TSS	HUVEC	blood vessel
30	chr6:28110400-28111400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:28110400-28111400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:28110600-28111200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:28110600-28111200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:28110600-28111200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:28110600-28111200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:28110600-28111200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:28110600-28111200	Enhancers	Brain Angular Gyrus	brain
38	chr6:28110600-28111200	Enhancers	Brain Substantia Nigra	brain
39	chr6:28110600-28111200	Enhancers	Fetal Intestine Large	intestine
40	chr6:28110600-28111200	Weak transcription	Ovary	ovary
41	chr6:28110600-28111200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:28110600-28111200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:28110600-28111200	Flanking Active TSS	A549	lung
44	chr6:28110600-28111200	Flanking Active TSS	GM12878-XiMat	blood
45	chr6:28110600-28111200	Flanking Active TSS	HSMM	muscle
46	chr6:28110600-28111400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:28110600-28111400	Enhancers	Primary B cells from cord blood	blood
48	chr6:28110600-28111400	Enhancers	Primary T cells from cord blood	blood
49	chr6:28110600-28111400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr6:28110600-28111400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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