Variant report

Variant	rs60865542
Chromosome Location	chr11:85364701-85364702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85364639-85364815	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:85364294-85364909	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:85362136-85365761	A549	lung:	n/a	n/a
4	POLR2A	chr11:85364638-85365636	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:85364538-85365348	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:85363869-85365867	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:85363914-85365609	K562	blood:	n/a	n/a
8	POLR2A	chr11:85364615-85365652	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:85364654-85364749	HUVEC	blood vessel:	n/a	n/a
10	ATF1	chr11:85364071-85364789	K562	blood:	n/a	n/a
11	POLR2A	chr11:85362162-85365501	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:85362138-85365807	K562	blood:	n/a	n/a
13	POLR2A	chr11:85363972-85364998	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:85363879-85365867	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr11:85364123-85365393	K562	blood:	n/a	n/a
16	POLR2A	chr11:85364048-85365588	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:85364141-85364895	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:85362115-85365635	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:85364028-85365664	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:85364110-85365469	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:85363959-85368752	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:85364020-85364910	U87	brain:	n/a	n/a
23	POLR2A	chr11:85363992-85365731	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:85364168-85364778	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:85364580-85364920	GM12891	blood:	n/a	n/a
26	POLR2A	chr11:85363904-85365808	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:85364325-85365641	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:85363900-85365612	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFATC1	chr11:85363919-85365211	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:85364105-85364838	K562	blood:	n/a	n/a
31	POLR2A	chr11:85364519-85365391	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:85362174-85365755	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:85364616-85364909	U87	brain:	n/a	n/a
34	POLR2A	chr11:85364599-85364764	K562	blood:	n/a	n/a
35	POLR2A	chr11:85364604-85364871	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr11:85364206-85364910	U87	brain:	n/a	n/a
37	POLR2A	chr11:85364056-85365811	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:85364645-85364766	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:85364650-85365005	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:85363753-85365720	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr11:85364616-85364929	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85364604..85367287-chr11:85396670..85399821,3	K562	blood:

No data

Variant related genes	Relation type
TMEM126A	TF binding region
ENSG00000179071	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12099145	0.85[AMR][1000 genomes]
rs17148234	0.85[AMR][1000 genomes]
rs17148242	0.85[AMR][1000 genomes]
rs17148285	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17148316	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56047795	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56401259	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56687664	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56838978	0.82[AFR][1000 genomes]
rs57309067	0.85[AMR][1000 genomes]
rs57361884	0.85[AMR][1000 genomes]
rs60032790	0.87[AMR][1000 genomes]
rs60192818	0.82[AFR][1000 genomes]
rs60734322	0.82[AFR][1000 genomes]
rs61169921	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61180955	0.85[AMR][1000 genomes]
rs61465434	0.85[AMR][1000 genomes]
rs7116532	0.85[AMR][1000 genomes]
rs7116553	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7122987	0.82[AFR][1000 genomes]
rs7942218	0.85[AMR][1000 genomes]
rs7946793	0.83[AFR][1000 genomes]

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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription 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 target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85359400-85370400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:85359400-85373000	Weak transcription	Small Intestine	intestine
3	chr11:85359400-85374000	Weak transcription	Esophagus	oesophagus
4	chr11:85359600-85373000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:85359600-85373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:85359800-85364800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:85359800-85365000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:85359800-85366600	Weak transcription	HSMMtube	muscle
9	chr11:85359800-85366800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:85359800-85368200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:85359800-85372600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:85359800-85373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:85359800-85373000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:85359800-85373000	Weak transcription	Ovary	ovary
15	chr11:85359800-85373200	Weak transcription	Fetal Stomach	stomach
16	chr11:85360000-85366200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:85360000-85366200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:85360000-85373000	Weak transcription	Colonic Mucosa	Colon
19	chr11:85360200-85369200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:85360200-85371200	Weak transcription	Fetal Brain Male	brain
21	chr11:85360200-85372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:85360200-85373000	Weak transcription	Thymus	Thymus
23	chr11:85360400-85366200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:85360400-85373000	Weak transcription	Right Ventricle	heart
25	chr11:85360400-85373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:85360400-85374000	Weak transcription	Lung	lung
27	chr11:85360400-85374000	Weak transcription	Pancreas	Pancrea
28	chr11:85360400-85374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:85360600-85364800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:85360600-85365000	Weak transcription	NHLF	lung
31	chr11:85360600-85369600	Weak transcription	Brain Germinal Matrix	brain
32	chr11:85360600-85370400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:85360600-85371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:85360800-85365000	Weak transcription	Fetal Brain Female	brain
35	chr11:85360800-85366200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:85360800-85366200	Weak transcription	Liver	Liver
37	chr11:85360800-85366400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:85360800-85366600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:85360800-85366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:85360800-85367600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:85360800-85369200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:85360800-85370200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:85360800-85372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:85360800-85372600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:85361000-85366200	Weak transcription	Hela-S3	cervix
46	chr11:85361000-85366200	Weak transcription	Osteobl	bone
47	chr11:85361000-85366600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:85361000-85370400	Weak transcription	Fetal Intestine Small	intestine
49	chr11:85361200-85367000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:85361400-85369200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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