Variant report

Variant	rs671994
Chromosome Location	chr11:85364410-85364411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:85363936-85364557	K562	blood:	n/a	n/a
2	TBL1XR1	chr11:85364059-85364434	K562	blood:	n/a	n/a
3	EP300	chr11:85364003-85364438	K562	blood:	n/a	n/a
4	POLR2A	chr11:85364294-85364909	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:85363962-85364499	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:85362136-85365761	A549	lung:	n/a	n/a
7	POLR2A	chr11:85363869-85365867	PANC-1	pancreas:	n/a	n/a
8	CEBPB	chr11:85364200-85364645	K562	blood:	n/a	n/a
9	TCF7L2	chr11:85364289-85364537	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:85363914-85365609	K562	blood:	n/a	n/a
11	ATF1	chr11:85364071-85364789	K562	blood:	n/a	n/a
12	POLR2A	chr11:85362162-85365501	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:85362138-85365807	K562	blood:	n/a	n/a
14	POLR2A	chr11:85363972-85364998	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr11:85363991-85364445	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:85364145-85364649	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:85364230-85364531	ProgFib	skin:	n/a	n/a
18	POLR2A	chr11:85363879-85365867	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:85364123-85365393	K562	blood:	n/a	n/a
20	POLR2A	chr11:85364048-85365588	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:85363953-85364496	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr11:85364141-85364895	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:85362115-85365635	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:85364028-85365664	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:85364110-85365469	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:85363959-85368752	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:85364020-85364910	U87	brain:	n/a	n/a
28	POLR2A	chr11:85363992-85365731	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:85364168-85364778	GM12878	blood:	n/a	n/a
30	STAT5A	chr11:85364155-85364470	K562	blood:	n/a	chr11:85364323-85364337
31	POLR2A	chr11:85363904-85365808	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:85364325-85365641	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:85363900-85365612	H1-hESC	embryonic stem cell:	n/a	n/a
34	NFATC1	chr11:85363919-85365211	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:85364105-85364838	K562	blood:	n/a	n/a
36	POLR2A	chr11:85363904-85364607	GM12892	blood:	n/a	n/a
37	POLR2A	chr11:85362174-85365755	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:85364206-85364910	U87	brain:	n/a	n/a
39	POLR2A	chr11:85364056-85365811	HepG2	liver:	n/a	n/a
40	JUND	chr11:85364199-85364414	K562	blood:	n/a	n/a
41	POLR2A	chr11:85363753-85365720	PFSK-1	brain:	n/a	n/a
42	ZMIZ1	chr11:85364130-85364533	K562	blood:	n/a	n/a
43	ARID3A	chr11:85364147-85364417	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
TMEM126A	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1213585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs290188	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs290189	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532018	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534734	1.00[EUR][1000 genomes]
rs542633	1.00[EUR][1000 genomes]
rs547361	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs636735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	chr11:85359800-85364600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:85359800-85364600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:85359800-85364800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:85359800-85365000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:85359800-85366600	Weak transcription	HSMMtube	muscle
11	chr11:85359800-85366800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:85359800-85368200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:85359800-85372600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:85359800-85373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:85359800-85373000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:85359800-85373000	Weak transcription	Ovary	ovary
17	chr11:85359800-85373200	Weak transcription	Fetal Stomach	stomach
18	chr11:85360000-85364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:85360000-85366200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:85360000-85366200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:85360000-85373000	Weak transcription	Colonic Mucosa	Colon
22	chr11:85360200-85369200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:85360200-85371200	Weak transcription	Fetal Brain Male	brain
24	chr11:85360200-85372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:85360200-85373000	Weak transcription	Thymus	Thymus
26	chr11:85360400-85364600	Weak transcription	Primary T cells from cord blood	blood
27	chr11:85360400-85366200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:85360400-85373000	Weak transcription	Right Ventricle	heart
29	chr11:85360400-85373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:85360400-85374000	Weak transcription	Lung	lung
31	chr11:85360400-85374000	Weak transcription	Pancreas	Pancrea
32	chr11:85360400-85374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:85360600-85364800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:85360600-85365000	Weak transcription	NHLF	lung
35	chr11:85360600-85369600	Weak transcription	Brain Germinal Matrix	brain
36	chr11:85360600-85370400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:85360600-85371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:85360800-85365000	Weak transcription	Fetal Brain Female	brain
39	chr11:85360800-85366200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:85360800-85366200	Weak transcription	Liver	Liver
41	chr11:85360800-85366400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:85360800-85366600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:85360800-85366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:85360800-85367600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:85360800-85369200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:85360800-85370200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:85360800-85372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:85360800-85372600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:85361000-85366200	Weak transcription	Hela-S3	cervix
50	chr11:85361000-85366200	Weak transcription	Osteobl	bone

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