Variant report

Variant	rs10793065
Chromosome Location	chr11:73372089-73372090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:73371732-73373000	SK-N-SH	brain:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
2	RAD21	chr11:73371733-73372744	MCF-7	breast:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
3	RAD21	chr11:73371940-73372289	GM12878	blood:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
4	MYC	chr11:73372083-73372265	MCF-7	breast:	n/a	n/a
5	SP1	chr11:73371920-73372332	GM12878	blood:	n/a	n/a
6	SMC3	chr11:73371043-73372861	SK-N-SH	brain:	n/a	chr11:73372235-73372243 chr11:73372154-73372164 chr11:73372161-73372168 chr11:73372154-73372168
7	MAFK	chr11:73372004-73372201	K562	blood:	n/a	n/a
8	POU2F2	chr11:73371946-73372404	GM12878	blood:	n/a	n/a
9	CTCF	chr11:73372004-73372715	K562	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
10	POLR2A	chr11:73371980-73372606	HUVEC	blood vessel:	n/a	n/a
11	MYC	chr11:73372054-73372720	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:73372007-73372337	A549	lung:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
13	JUN	chr11:73372079-73372281	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr11:73371911-73372686	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr11:73371894-73372943	A549	lung:	n/a	n/a
16	POLR2A	chr11:73371904-73372670	HUVEC	blood vessel:	n/a	n/a
17	RAD21	chr11:73371550-73372765	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
18	POLR2A	chr11:73371903-73372867	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr11:73371980-73372367	GM12878	blood:	n/a	n/a
20	ZNF143	chr11:73371999-73372493	K562	blood:	n/a	n/a
21	TEAD4	chr11:73371927-73372739	H1-hESC	embryonic stem cell:	n/a	n/a
22	RFX5	chr11:73372025-73372317	Hela-S3	cervix:	n/a	n/a
23	YY1	chr11:73372003-73372304	SK-N-SH_RA	brain:	n/a	n/a
24	RAD21	chr11:73371636-73372863	HCT-116	colon:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
25	CTCF	chr11:73372020-73372170	HCM	heart:	n/a	chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
26	EP300	chr11:73372069-73372255	K562	blood:	n/a	n/a
27	CTCF	chr11:73372080-73372230	GM12878	blood:	n/a	chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
28	HA-E2F1	chr11:73371912-73372846	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:73372042-73372292	GM20000	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
30	RAD21	chr11:73371847-73372722	H1-hESC	embryonic stem cell:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
31	MAX	chr11:73372044-73372646	K562	blood:	n/a	n/a
32	CEBPB	chr11:73372012-73372249	K562	blood:	n/a	n/a
33	CTCF	chr11:73372080-73372230	HPF	lung:	n/a	chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
34	USF2	chr11:73372075-73372588	GM12878	blood:	n/a	n/a
35	CTCF	chr11:73371988-73372372	GM12891	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
36	CTCF	chr11:73371787-73372735	HCT-116	colon:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
37	RCOR1	chr11:73371937-73372335	K562	blood:	n/a	n/a
38	THAP1	chr11:73372016-73372414	K562	blood:	n/a	n/a
39	POLR2A	chr11:73371819-73372786	GM12891	blood:	n/a	n/a
40	BRCA1	chr11:73372021-73372186	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr11:73371803-73372561	A549	lung:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
42	CTCF	chr11:73371994-73372351	GM19240	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
43	CTCF	chr11:73372010-73372323	Lung_OC	lung:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
44	RAD21	chr11:73371795-73372464	HepG2	liver:	n/a	chr11:73372150-73372169 chr11:73372154-73372168
45	CTCF	chr11:73372060-73372210	RPTEC	kidney:	n/a	chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
46	BHLHE40	chr11:73371968-73372674	K562	blood:	n/a	n/a
47	POLR2A	chr11:73371732-73372757	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr11:73372020-73372298	Hela-S3	cervix:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
49	POLR2A	chr11:73372023-73372112	ProgFib	skin:	n/a	n/a
50	EP300	chr11:73371836-73372440	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73189539..73190279-chr11:73371425..73372555,3	MCF-7	breast:
2	chr11:73189484..73190492-chr11:73371669..73372682,5	K562	blood:
3	chr11:73114875..73115740-chr11:73371666..73372740,6	MCF-7	breast:
4	chr11:73061985..73063168-chr11:73371666..73372611,6	K562	blood:
5	chr11:73114698..73115543-chr11:73371649..73372416,6	K562	blood:
6	chr11:73336503..73337418-chr11:73371731..73372656,5	MCF-7	breast:
7	chr11:73371264..73374255-chr11:73470720..73472543,3	MCF-7	breast:
8	chr11:73006156..73007134-chr11:73371683..73372187,2	K562	blood:
9	chr11:73061949..73062569-chr11:73371667..73372987,3	MCF-7	breast:
10	chr11:73113711..73116580-chr11:73369932..73372135,2	MCF-7	breast:
11	chr11:73189399..73190555-chr11:73372006..73372626,3	MCF-7	breast:
12	chr11:73113521..73114482-chr11:73371404..73372583,4	MCF-7	breast:
13	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:
14	chr11:73371739..73372578-chr11:73642460..73643367,2	MCF-7	breast:
15	chr11:73339161..73339931-chr11:73371565..73372121,2	K562	blood:
16	chr11:73308527..73310864-chr11:73370877..73373752,3	MCF-7	breast:
17	chr11:73371809..73372966-chr11:73642075..73643041,5	MCF-7	breast:
18	chr11:73240973..73241953-chr11:73371670..73372602,3	K562	blood:
19	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
20	chr11:73370621..73373782-chr11:73375391..73378489,3	K562	blood:
21	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
22	chr11:73370621..73373362-chr11:73374892..73376891,2	K562	blood:
23	chr11:73336448..73337518-chr11:73371686..73372936,6	K562	blood:
24	chr11:73114553..73115793-chr11:73371630..73372835,7	MCF-7	breast:
25	chr11:73371085..73373574-chr11:73587519..73589689,2	MCF-7	breast:
26	chr11:73071278..73072181-chr11:73371770..73372619,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000252732	Chromatin interaction
ENSG00000256448	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000054965	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10793064	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10793066	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10898930	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898931	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs10898935	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs10898936	0.82[AMR][1000 genomes]
rs11235833	0.86[CHB][hapmap]
rs11235861	0.82[AMR][1000 genomes]
rs11235862	0.82[AMR][1000 genomes]
rs11235876	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs11602887	0.81[AMR][1000 genomes]
rs12420357	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs12788229	0.80[AMR][1000 genomes]
rs1525749	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1632159	0.83[JPT][hapmap]
rs1670537	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1670557	0.86[JPT][hapmap]
rs1670564	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1670565	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1723843	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs1723848	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1792156	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1792160	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1792174	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1976911	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2008734	0.92[CEU][hapmap];0.87[CHB][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2140893	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2367187	0.84[AMR][1000 genomes]
rs2367188	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3781909	0.83[CHB][hapmap];0.84[YRI][hapmap]
rs3817514	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3862797	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7104603	0.82[AMR][1000 genomes]
rs7119055	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs868667	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10793065	MRPL48	cis	multi-tissue	Pritchard
rs10793065	MRPL48	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73359600-73372200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:73362000-73375000	Weak transcription	Aorta	Aorta
3	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:73371200-73372600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:73371600-73372200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:73371600-73372200	Active TSS	Colon Smooth Muscle	Colon
7	chr11:73371600-73372400	Enhancers	Gastric	stomach
8	chr11:73371600-73372600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:73371600-73372600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr11:73371600-73372600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:73371600-73372600	Flanking Active TSS	Colonic Mucosa	Colon
12	chr11:73371600-73372600	Enhancers	Fetal Brain Male	brain
13	chr11:73371600-73372600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr11:73371600-73372600	Enhancers	Lung	lung
15	chr11:73371600-73372600	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr11:73371600-73372600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:73371600-73372600	Flanking Active TSS	Osteobl	bone
18	chr11:73371600-73372800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:73371600-73372800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:73371600-73372800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr11:73371600-73372800	Enhancers	Spleen	Spleen
22	chr11:73371600-73372800	Flanking Active TSS	NHEK	skin
23	chr11:73371600-73374200	Strong transcription	HepG2	liver
24	chr11:73371800-73372200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr11:73371800-73372200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:73371800-73372200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:73371800-73372200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:73371800-73372200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:73371800-73372200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:73371800-73372200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr11:73371800-73372200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:73371800-73372200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:73371800-73372200	Enhancers	Liver	Liver
34	chr11:73371800-73372200	Enhancers	Fetal Heart	heart
35	chr11:73371800-73372200	Flanking Active TSS	Thymus	Thymus
36	chr11:73371800-73372200	Flanking Active TSS	NH-A	brain
37	chr11:73371800-73372400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:73371800-73372400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr11:73371800-73372400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:73371800-73372400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:73371800-73372400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:73371800-73372400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:73371800-73372400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr11:73371800-73372400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr11:73371800-73372400	Enhancers	Psoas Muscle	Psoas
46	chr11:73371800-73372400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:73371800-73372400	Flanking Active TSS	Right Ventricle	heart
48	chr11:73371800-73372400	Flanking Active TSS	Stomach Mucosa	stomach
49	chr11:73371800-73372400	Enhancers	HSMMtube	muscle
50	chr11:73371800-73372400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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