Variant report

Variant	rs10770123
Chromosome Location	chr11:10534866-10534867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:10532392-10535141	K562	blood:	n/a	n/a
2	ESRRA	chr11:10534330-10535010	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:10534042..10535923-chr11:10675097..10677538,2	MCF-7	breast:
2	chr11:10534555..10537040-chr11:10542558..10544660,2	K562	blood:
3	chr11:10532333..10535020-chr11:10535560..10538529,2	K562	blood:
4	chr11:10533091..10536044-chr11:10536842..10539445,2	K562	blood:
5	chr11:10526046..10528232-chr11:10533609..10536011,2	K562	blood:

No data

Variant related genes	Relation type
MTRNR2L8	TF binding region
ENSG00000110315	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10219205	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs10437597	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10500726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1065052	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1074375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1074377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840431	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10840433	0.83[MEX][hapmap]
rs10840435	0.87[ASN][1000 genomes]
rs10840436	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840438	0.82[CEU][hapmap]
rs10840441	0.82[TSI][hapmap]
rs12277871	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12279850	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1350991	0.83[MEX][hapmap]
rs1531479	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs16907989	0.82[CEU][hapmap]
rs1870951	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1993817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1993818	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1993819	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054392	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2071018	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34466373	0.96[ASN][1000 genomes]
rs3741034	0.87[TSI][hapmap]
rs3741037	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3741038	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3741039	0.93[ASN][1000 genomes]
rs3741041	0.90[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3781863	0.87[ASN][1000 genomes]
rs4146830	0.83[MEX][hapmap]
rs4910146	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4910153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6484344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7941294	0.87[EUR][1000 genomes]
rs7951653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv972946	chr11:10523147-10534985	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10770123	MRVI1	cis	multi-tissue	Pritchard
rs10770123	SNORA45	cis	cerebellum	SCAN
rs10770123	MICAL2	cis	parietal	SCAN
rs10770123	AMPD3	cis	cerebellum	SCAN
rs10770123	RNF141	cis	parietal	SCAN
rs10770123	RNF141	cis	Liver	GTEx
rs10770123	GALNTL4	cis	cerebellum	SCAN
rs10770123	RNF141	cis	multi-tissue	Pritchard
rs10770123	MRVI1	cis	normal skin	skin_eQTL
rs10770123	MRVI1	cis	brain	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
2	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
3	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
4	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
5	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
6	chr11:10513200-10538000	Weak transcription	Left Ventricle	heart
7	chr11:10513400-10536000	Weak transcription	A549	lung
8	chr11:10514600-10535600	Weak transcription	HSMM	muscle
9	chr11:10515800-10540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:10516000-10544000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:10520000-10543400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:10522200-10541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:10522400-10535600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:10522400-10537800	Weak transcription	Fetal Intestine Large	intestine
15	chr11:10522400-10540600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:10522400-10546200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:10522800-10540600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:10524200-10537800	Weak transcription	Aorta	Aorta
20	chr11:10524600-10536800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:10524600-10540600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:10524600-10544800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:10526200-10535400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:10526400-10536000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:10526400-10536200	Weak transcription	NHDF-Ad	bronchial
27	chr11:10526400-10537800	Weak transcription	Pancreas	Pancrea
28	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
29	chr11:10526400-10549000	Weak transcription	Ovary	ovary
30	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
32	chr11:10526800-10537800	Weak transcription	Fetal Intestine Small	intestine
33	chr11:10526800-10548800	Weak transcription	Psoas Muscle	Psoas
34	chr11:10527200-10537800	Weak transcription	Lung	lung
35	chr11:10527200-10540200	Weak transcription	Liver	Liver
36	chr11:10527200-10540200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:10527200-10540600	Weak transcription	Gastric	stomach
38	chr11:10527400-10535600	Weak transcription	NHLF	lung
39	chr11:10527600-10542400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:10527800-10535600	Weak transcription	Thymus	Thymus
41	chr11:10527800-10541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:10528000-10540400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:10528000-10540600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:10528000-10540600	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:10528000-10542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:10528200-10535600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:10528200-10536000	Weak transcription	Fetal Stomach	stomach
48	chr11:10528200-10536200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:10528200-10536400	Weak transcription	Right Atrium	heart
50	chr11:10528200-10538800	Weak transcription	GM12878-XiMat	blood

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