Variant report

Variant	rs2969934
Chromosome Location	chr11:57435393-57435394
allele	A/C
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	HA-E2F1	chr11:57435163-57436098	Hela-S3	cervix:	n/a	chr11:57435269-57435278 chr11:57435929-57435939 chr11:57435373-57435388 chr11:57435932-57435942
2	ZBTB33	chr11:57434555-57436002	SK-N-SH	brain:	n/a	chr11:57435527-57435537
3	POLR2A	chr11:57435076-57436027	Gliobla	brain:	n/a	n/a
4	TBP	chr11:57434389-57435824	GM12878	blood:	n/a	n/a
5	RAD21	chr11:57435347-57435709	K562	blood:	n/a	n/a
6	UBTF	chr11:57435198-57436359	K562	blood:	n/a	n/a
7	MYC	chr11:57435282-57435688	K562	blood:	n/a	n/a
8	TAF1	chr11:57434292-57436337	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr11:57434253-57436386	GM12878	blood:	n/a	n/a
10	SP1	chr11:57434622-57435436	H1-hESC	embryonic stem cell:	n/a	chr11:57435268-57435289
11	POLR2A	chr11:57434194-57435963	U87	brain:	n/a	n/a
12	TAF1	chr11:57434503-57436353	GM12878	blood:	n/a	n/a
13	SIX5	chr11:57434666-57435396	GM12878	blood:	n/a	n/a
14	MAFF	chr11:57434804-57435463	K562	blood:	n/a	n/a
15	CTCF	chr11:57435380-57435530	HepG2	liver:	n/a	n/a
16	ARID3A	chr11:57434426-57435772	K562	blood:	n/a	chr11:57435301-57435316
17	ATF2	chr11:57434619-57435848	GM12878	blood:	n/a	n/a
18	RELA	chr11:57434189-57436346	GM15510	blood:	n/a	n/a
19	POLR2A	chr11:57435081-57435984	A549	lung:	n/a	n/a
20	GABPA	chr11:57434470-57436169	SK-N-SH	brain:	n/a	n/a
21	YY1	chr11:57435370-57435827	SK-N-SH_RA	brain:	n/a	chr11:57435380-57435394 chr11:57435540-57435551
22	GABPA	chr11:57435357-57436027	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:57433949-57435625	Hela-S3	cervix:	n/a	chr11:57435144-57435161 chr11:57434007-57434018 chr11:57435270-57435278
24	NFIC	chr11:57434603-57435480	HepG2	liver:	n/a	n/a
25	BHLHE40	chr11:57434644-57435838	GM12878	blood:	n/a	chr11:57435541-57435557
26	EP300	chr11:57434647-57435490	A549	lung:	n/a	n/a
27	TEAD4	chr11:57434327-57435561	K562	blood:	n/a	n/a
28	KAP1	chr11:57434245-57435770	HEK293	kidney:	n/a	n/a
29	POLR2A	chr11:57434442-57435936	SK-N-SH	brain:	n/a	n/a
30	MYC	chr11:57435030-57435767	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr11:57434219-57435952	HCT-116	colon:	n/a	n/a
32	NFYB	chr11:57434613-57435605	Hela-S3	cervix:	n/a	chr11:57435267-57435282 chr11:57435267-57435280 chr11:57435445-57435460 chr11:57435266-57435278 chr11:57435445-57435460 chr11:57435269-57435279 chr11:57435445-57435459
33	ZBTB33	chr11:57434598-57435866	HCT-116	colon:	n/a	chr11:57435527-57435537
34	MYC	chr11:57434222-57436407	K562	blood:	n/a	n/a
35	POLR2A	chr11:57434386-57436223	HUVEC	blood vessel:	n/a	n/a
36	SPI1	chr11:57434690-57435996	HL-60	blood:	n/a	n/a
37	STAT5A	chr11:57434630-57435864	K562	blood:	n/a	chr11:57434660-57434672
38	BRCA1	chr11:57434739-57436077	GM12878	blood:	n/a	n/a
39	NFYB	chr11:57434519-57435657	GM12878	blood:	n/a	chr11:57435267-57435282 chr11:57435267-57435280 chr11:57435445-57435460 chr11:57435266-57435278 chr11:57435445-57435460 chr11:57435269-57435279 chr11:57435445-57435459
40	JUND	chr11:57434551-57436036	A549	lung:	n/a	chr11:57435449-57435458 chr11:57435783-57435797 chr11:57435546-57435555 chr11:57435271-57435280
41	MXI1	chr11:57434361-57436324	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:57435076-57435931	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:57435063-57436279	GM12878	blood:	n/a	n/a
44	ZNF384	chr11:57434168-57435750	GM12878	blood:	n/a	n/a
45	NFATC1	chr11:57434583-57435468	GM12878	blood:	n/a	n/a
46	EP300	chr11:57434408-57435874	K562	blood:	n/a	chr11:57435566-57435582 chr11:57435691-57435698 chr11:57435566-57435575 chr11:57435534-57435550
47	FOXA1	chr11:57434681-57435402	HepG2	liver:	n/a	n/a
48	EP300	chr11:57434633-57435813	H1-hESC	embryonic stem cell:	n/a	chr11:57435566-57435582 chr11:57435691-57435698 chr11:57435566-57435575 chr11:57435534-57435550
49	ZBTB33	chr11:57434530-57435901	A549	lung:	n/a	chr11:57435527-57435537
50	FOS	chr11:57434640-57435577	K562	blood:	n/a	chr11:57435449-57435458 chr11:57435546-57435555 chr11:57435271-57435280

No.	Distal block	Cell Line	Cell type
1	chr11:57434556..57437314-chr11:57447656..57451477,4	MCF-7	breast:
2	chr11:57435199..57435913-chr9:96213260..96214133,2	Hela-S3	cervix:
3	chr11:57423375..57427275-chr11:57433374..57437610,8	MCF-7	breast:
4	chr11:57431371..57436913-chr11:57505728..57511660,10	K562	blood:
5	chr11:57434290..57436913-chr11:57507221..57510395,5	K562	blood:
6	chr11:57434916..57435833-chr3:142297320..142297887,2	Hela-S3	cervix:
7	chr11:57435166..57438481-chr11:57528814..57531638,3	K562	blood:
8	chr11:57415844..57417828-chr11:57434244..57436938,3	K562	blood:
9	chr11:57433936..57437289-chr11:57477964..57482818,9	K562	blood:
10	chr11:57192480..57194732-chr11:57434843..57437661,2	K562	blood:
11	chr11:57435291..57435963-chr7:4814494..4815452,2	Hela-S3	cervix:
12	chr11:57434798..57437115-chr11:58345701..58348083,4	MCF-7	breast:
13	chr11:57435097..57435828-chr14:24911287..24912136,2	Hela-S3	cervix:
14	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:
15	chr11:57243239..57245827-chr11:57433789..57436480,2	K562	blood:
16	chr11:57433251..57437103-chr11:58344962..58348416,5	K562	blood:
17	chr11:57435266..57437517-chr11:57478547..57480108,2	MCF-7	breast:
18	chr11:57423095..57430151-chr11:57432283..57438412,24	K562	blood:
19	chr11:57424563..57426708-chr11:57434107..57436084,3	MCF-7	breast:
20	chr11:57433015..57436358-chr11:57440099..57444661,8	MCF-7	breast:
21	chr11:57434008..57435608-chr11:57507270..57509557,2	MCF-7	breast:
22	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
23	chr11:57091726..57094053-chr11:57435298..57437706,2	K562	blood:
24	chr11:57433212..57437810-chr11:57477098..57481918,8	MCF-7	breast:
25	chr11:57334877..57336760-chr11:57434606..57436554,2	MCF-7	breast:

Variant related genes	Relation type
ZDHHC5	TF binding region
ENSG00000134802	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000255301	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000242802	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000149115	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000156587	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000254662	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000254602	Chromatin interaction
ENSG00000175054	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000166793	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11229097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570222	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs12284270	1.00[YRI][hapmap]
rs2911726	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926652	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926657	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs2956979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969940	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969946	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57433800-57436600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:57434000-57435600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:57434000-57436200	Active TSS	Fetal Brain Female	brain
4	chr11:57434000-57436400	Active TSS	Fetal Kidney	kidney
5	chr11:57434000-57436400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:57434000-57436600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:57434000-57436600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:57434000-57436600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:57434000-57436600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:57434000-57436800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:57434000-57436800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:57434000-57436800	Active TSS	Psoas Muscle	Psoas
13	chr11:57434000-57436800	Active TSS	Right Ventricle	heart
14	chr11:57434000-57437000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:57434000-57437000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:57434000-57437400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:57434200-57436400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:57434200-57436400	Active TSS	Ovary	ovary
19	chr11:57434200-57436600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:57434200-57436600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:57434200-57436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:57434200-57436600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:57434200-57436600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:57434200-57436600	Active TSS	Aorta	Aorta
25	chr11:57434200-57436600	Active TSS	Left Ventricle	heart
26	chr11:57434200-57436800	Active TSS	Fetal Intestine Large	intestine
27	chr11:57434200-57436800	Active TSS	NHDF-Ad	bronchial
28	chr11:57434200-57437200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:57434400-57435600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:57434400-57435600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:57434400-57435600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:57434400-57436200	Active TSS	Primary hematopoietic stem cells	blood
33	chr11:57434400-57436200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:57434400-57436200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr11:57434400-57436200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:57434400-57436200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:57434400-57436200	Active TSS	Brain Anterior Caudate	brain
38	chr11:57434400-57436200	Active TSS	Brain Hippocampus Middle	brain
39	chr11:57434400-57436200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:57434400-57436200	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:57434400-57436400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:57434400-57436400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:57434400-57436400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:57434400-57436400	Active TSS	Brain Angular Gyrus	brain
45	chr11:57434400-57436400	Active TSS	Brain Substantia Nigra	brain
46	chr11:57434400-57436400	Active TSS	Colon Smooth Muscle	Colon
47	chr11:57434400-57436400	Active TSS	Fetal Lung	lung
48	chr11:57434400-57436400	Active TSS	Fetal Stomach	stomach
49	chr11:57434400-57436400	Active TSS	Gastric	stomach
50	chr11:57434400-57436400	Active TSS	Rectal Mucosa Donor 29	rectum

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