Variant report

Variant	rs7129040
Chromosome Location	chr11:62440159-62440160
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:62438314-62440810	HCT-116	colon:	n/a	n/a
2	POLR2A	chr11:62438640-62440222	MCF-7	breast:	n/a	n/a
3	NR2F2	chr11:62438637-62441039	K562	blood:	n/a	chr11:62440899-62440914
4	TEAD4	chr11:62438359-62440199	K562	blood:	n/a	n/a
5	MAX	chr11:62438316-62440256	A549	lung:	n/a	n/a
6	MXI1	chr11:62438394-62440227	IMR90	lung:	n/a	n/a
7	MAX	chr11:62438342-62440780	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:62438306-62440712	HL-60	blood:	n/a	n/a
9	TCF12	chr11:62438696-62440214	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:62438673-62440764	K562	blood:	n/a	n/a
11	POLR2A	chr11:62438421-62440190	PFSK-1	brain:	n/a	n/a
12	HEY1	chr11:62438683-62440555	K562	blood:	n/a	n/a
13	RUNX3	chr11:62438379-62440196	GM12878	blood:	n/a	chr11:62438836-62438851
14	MTA3	chr11:62438368-62440308	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:62438337-62440216	PFSK-1	brain:	n/a	n/a
16	ZNF384	chr11:62438477-62440504	K562	blood:	n/a	n/a
17	YY1	chr11:62438880-62440198	K562	blood:	n/a	chr11:62439169-62439180 chr11:62439901-62439915
18	CBX3	chr11:62438892-62440437	K562	blood:	n/a	n/a
19	POLR2A	chr11:62438305-62440878	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:62438353-62440275	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr11:62438296-62440838	K562	blood:	n/a	n/a
22	POLR2A	chr11:62438339-62440227	K562	blood:	n/a	n/a
23	SIN3AK20	chr11:62438444-62440180	K562	blood:	n/a	n/a
24	SIN3AK20	chr11:62438300-62440242	MCF-7	breast:	n/a	n/a
25	HEY1	chr11:62438412-62440196	K562	blood:	n/a	n/a
26	POLR2A	chr11:62438517-62440162	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:62438577-62440182	K562	blood:	n/a	n/a
28	POLR2A	chr11:62438360-62440881	K562	blood:	n/a	n/a
29	POLR2A	chr11:62438051-62443358	HepG2	liver:	n/a	n/a
30	TAF1	chr11:62438671-62440178	K562	blood:	n/a	n/a
31	POLR2A	chr11:62438797-62440168	A549	lung:	n/a	n/a
32	HCFC1	chr11:62438459-62440283	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:62438704-62440189	K562	blood:	n/a	n/a
34	POLR2A	chr11:62438462-62440184	H1-hESC	embryonic stem cell:	n/a	n/a
35	MXI1	chr11:62438288-62440365	SK-N-SH	brain:	n/a	n/a
36	ZNF384	chr11:62439822-62440163	GM12878	blood:	n/a	n/a
37	GATA3	chr11:62438964-62440209	MCF-7	breast:	n/a	chr11:62439096-62439105 chr11:62439408-62439418
38	GATA1	chr11:62438835-62440208	PBDE	blood:	n/a	chr11:62439096-62439105 chr11:62439408-62439418
39	POLR2A	chr11:62436702-62440623	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr11:62438493-62440181	HL-60	blood:	n/a	n/a

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62398695..62402146-chr11:62437688..62440661,4	MCF-7	breast:
2	chr11:62439396..62442145-chr11:62455963..62458544,3	K562	blood:
3	chr11:61196244..61197986-chr11:62438417..62440455,2	MCF-7	breast:
4	chr11:62431946..62440629-chr11:62523095..62533975,14	K562	blood:
5	chr11:62401244..62403243-chr11:62438042..62440764,2	MCF-7	breast:
6	chr11:62437407..62441142-chr11:62472174..62474632,6	K562	blood:
7	chr11:62437394..62440869-chr11:62646713..62650476,3	MCF-7	breast:
8	chr11:62437902..62440442-chr11:62649124..62651386,2	K562	blood:
9	chr11:62437831..62441395-chr11:62457569..62460613,4	MCF-7	breast:
10	chr11:62337874..62344185-chr11:62431132..62441783,22	K562	blood:
11	chr11:62436186..62443328-chr11:62605173..62609692,11	MCF-7	breast:
12	chr11:62437179..62441189-chr11:62491770..62496446,10	K562	blood:
13	chr11:62439170..62442094-chr11:62464608..62467009,3	MCF-7	breast:
14	chr11:62437536..62440497-chr11:62572086..62574546,2	K562	blood:
15	chr1:234859527..234861262-chr11:62438625..62440198,2	MCF-7	breast:
16	chr11:62373213..62382341-chr11:62430187..62440422,29	K562	blood:
17	chr11:62388014..62391477-chr11:62437916..62440907,4	MCF-7	breast:
18	chr11:62339404..62343149-chr11:62437801..62441524,6	MCF-7	breast:
19	chr11:62437710..62440274-chr11:62620647..62623771,3	MCF-7	breast:
20	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
21	chr11:62437956..62440690-chr11:62471946..62474260,6	MCF-7	breast:
22	chr11:62357319..62360814-chr11:62437164..62440854,7	K562	blood:
23	chr11:62439709..62441455-chr11:62571415..62573029,2	K562	blood:
24	chr11:62437818..62440544-chr11:62462109..62463883,3	K562	blood:
25	chr11:62437650..62440522-chr11:62470296..62474639,5	K562	blood:
26	chr11:62437470..62440242-chr11:62620623..62623649,4	K562	blood:
27	chr11:62438216..62442259-chr11:62472089..62478443,13	MCF-7	breast:
28	chr11:62430854..62442244-chr11:62606149..62611424,26	K562	blood:
29	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
30	chr11:62357319..62362043-chr11:62437125..62441010,6	K562	blood:
31	chr11:62362245..62364741-chr11:62437553..62440349,2	K562	blood:
32	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
33	chr11:62436333..62448417-chr11:62605662..62610542,19	K562	blood:
34	chr11:62429368..62441438-chr11:62488512..62498189,36	K562	blood:
35	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
36	chr11:62438822..62440835-chr11:62555100..62556729,2	K562	blood:
37	chr11:62313391..62315113-chr11:62438987..62440868,2	MCF-7	breast:
38	chr11:62439100..62442591-chr11:62606369..62609762,6	MCF-7	breast:
39	chr11:62431330..62441336-chr11:62489515..62497875,29	MCF-7	breast:
40	chr11:62437834..62441678-chr11:62528022..62529597,3	MCF-7	breast:
41	chr11:62407005..62417562-chr11:62426315..62441135,36	MCF-7	breast:
42	chr11:62160291..62162827-chr11:62438935..62440917,2	K562	blood:
43	chr11:62373213..62384382-chr11:62430946..62441432,32	K562	blood:
44	chr11:62406639..62408518-chr11:62439186..62440899,2	K562	blood:

No data

Variant related genes	Relation type
C11orf48	TF binding region
ENSG00000149499	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000177363	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000167985	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000256591	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000227630	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000255126	Chromatin interaction
ENSG00000254964	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000149532	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000089597	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12270159	1.00[EUR][1000 genomes]
rs12286444	0.87[AMR][1000 genomes]
rs2956992	0.81[AFR][1000 genomes]
rs2957121	0.80[AFR][1000 genomes]
rs4343028	0.81[AFR][1000 genomes]
rs567069	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs631714	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
7	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 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	chr11:62437800-62440200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:62437800-62440200	Active TSS	K562	blood
3	chr11:62438000-62440400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:62438000-62440400	Active TSS	GM12878-XiMat	blood
5	chr11:62438200-62440200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:62438400-62440200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:62438400-62440200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:62438400-62440200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:62438400-62440200	Active TSS	Esophagus	oesophagus
10	chr11:62438400-62440200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:62438400-62440400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:62438400-62440400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:62438400-62440400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:62438400-62440400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:62438400-62440400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:62438400-62440400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:62438400-62440400	Active TSS	A549	lung
18	chr11:62438400-62440400	Active TSS	NHLF	lung
19	chr11:62438400-62440600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:62438400-62440600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:62438400-62440600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:62438400-62440800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:62438600-62440200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:62438600-62440200	Active TSS	Brain Cingulate Gyrus	brain
25	chr11:62438600-62440200	Active TSS	Fetal Intestine Large	intestine
26	chr11:62438600-62440200	Active TSS	Gastric	stomach
27	chr11:62438600-62440200	Active TSS	Right Ventricle	heart
28	chr11:62438600-62440400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:62438600-62440400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:62438600-62441200	Active TSS	Rectal Smooth Muscle	rectum
31	chr11:62438800-62440200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr11:62438800-62440200	Active TSS	NH-A	brain
33	chr11:62438800-62440600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:62438800-62440600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:62438800-62440600	Active TSS	HSMM	muscle
36	chr11:62439000-62440400	Active TSS	Fetal Brain Female	brain
37	chr11:62439000-62440400	Active TSS	Osteobl	bone
38	chr11:62439200-62440400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:62439400-62440200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:62439400-62440200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr11:62439400-62440200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr11:62439400-62440200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr11:62439400-62440200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr11:62439400-62440400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:62439400-62440400	Flanking Active TSS	Placenta	Placenta
46	chr11:62439400-62440800	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr11:62439400-62440800	Transcr. at gene 5' and 3'	Dnd41	blood
48	chr11:62439600-62440200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:62439600-62440200	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr11:62439600-62440200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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