Variant report

Variant	rs11760747
Chromosome Location	chr7:100732321-100732322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr7:100732261-100732460	K562	blood:	n/a	n/a
2	POLR2A	chr7:100731934-100733502	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:100732194-100732512	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:100731671-100733078	K562	blood:	n/a	n/a
5	POLR2A	chr7:100732118-100732487	A549	lung:	n/a	n/a
6	POLR2A	chr7:100732045-100732413	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100732237-100732910	K562	blood:	n/a	n/a
8	POLR2A	chr7:100730027-100733736	K562	blood:	n/a	n/a
9	POLR2A	chr7:100732042-100733670	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:100732058-100732441	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:100729990-100733585	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:100730888-100732451	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:100732166-100732742	GM12878	blood:	n/a	n/a
14	EGR1	chr7:100732213-100732514	K562	blood:	n/a	n/a
15	POLR2A	chr7:100731946-100733104	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100732273-100732323	BE2_C	brain:	n/a
2	chr7:100732273-100732323	AG09319	gingival:	n/a
3	chr7:100732273-100732323	HCM	heart:	n/a
4	chr7:100732273-100732323	HRPEpiC	eye:	n/a
5	chr7:100732273-100732323	AG09309	skin:	n/a
6	chr7:100732273-100732323	NH-A	brain:	n/a
7	chr7:100732273-100732323	HCT-116	colon:	n/a
8	chr7:100732273-100732323	NHDF-neo	bronchial:	n/a
9	chr7:100732273-100732323	BJ	skin:	n/a
10	chr7:100732273-100732323	SK-N-SH_RA	brain:	n/a
11	chr7:100732273-100732323	Jurkat	blood:	n/a
12	chr7:100732273-100732323	HEK293	kidney:	embryo
13	chr7:100732273-100732323	NT2-D1	testis:	n/a
14	chr7:100732273-100732323	AoSMC	blood vessel:	n/a
15	chr7:100732273-100732323	MCF10A-Er-Src	breast:	n/a
16	chr7:100732273-100732323	RPTEC	kidney:	n/a
17	chr7:100732273-100732323	U87	brain:	n/a
18	chr7:100732273-100732323	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:100732273-100732323	SK-N-MC	brain:	n/a
20	chr7:100732273-100732323	ovcar-3	ovarian:	n/a
21	chr7:100732273-100732323	HCF	heart:	n/a
22	chr7:100732273-100732323	GM19239	blood:	n/a
23	chr7:100732273-100732323	GM12892	blood:	n/a
24	chr7:100732273-100732323	AG04450	lung:	fetal
25	chr7:100732273-100732323	PFSK-1	brain:	n/a
26	chr7:100732273-100732323	PANC-1	pancreas:	n/a
27	chr7:100732273-100732323	Caco-2	colon:	n/a
28	chr7:100732273-100732323	Hepatocyte	liver:	n/a
29	chr7:100732273-100732323	SK-N-SH	brain:	n/a
30	chr7:100732273-100732323	GM12891	blood:	n/a
31	chr7:100732273-100732323	Hela-S3	cervix:	n/a
32	chr7:100732273-100732323	LNCaP	prostate:	n/a
33	chr7:100732273-100732323	HUVEC	blood vessel:	n/a
34	chr7:100732273-100732323	NHBE	bronchial:	n/a
35	chr7:100732273-100732323	H1-hESC	embryonic stem cell:	embryo
36	chr7:100732273-100732323	HMEC	breast:	n/a
37	chr7:100732273-100732323	MCF-7	breast:	n/a
38	chr7:100732273-100732323	AG04449	skin:	fetal
39	chr7:100732273-100732323	ProgFib	skin:	n/a
40	chr7:100732273-100732323	HRCEpiC	kidney:	n/a
41	chr7:100732273-100732323	K562	blood:	n/a
42	chr7:100732273-100732323	ECC-1	luminal epithelium:	n/a
43	chr7:100732273-100732323	HRE	kidney:	n/a
44	chr7:100732273-100732323	IMR90	lung:	fetal
45	chr7:100732273-100732323	HepG2	liver:	n/a
46	chr7:100732273-100732323	HL-60	blood:	n/a
47	chr7:100732273-100732323	HEEpiC	esophagus:	n/a
48	chr7:100732273-100732323	NB4	blood:	n/a
49	chr7:100732273-100732323	GM12878	blood:	n/a
50	chr7:100732273-100732323	HNPCEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100730490..100732421-chr7:100773109..100775504,2	K562	blood:
2	chr7:100724040..100726394-chr7:100730905..100732742,2	MCF-7	breast:
3	chr7:100730924..100734717-chr7:100859526..100862672,3	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM56	TF binding region
TRIM56	CpG island
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10953321	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10953322	0.94[EUR][1000 genomes]
rs11761555	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11972491	0.91[EUR][1000 genomes]
rs11973843	0.89[EUR][1000 genomes]
rs11980635	0.90[EUR][1000 genomes]
rs12668231	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12669411	0.82[EUR][1000 genomes]
rs12673732	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28445891	0.80[ASN][1000 genomes]
rs57569772	0.89[EUR][1000 genomes]
rs66492618	0.89[EUR][1000 genomes]
rs67321422	0.83[EUR][1000 genomes]
rs67520893	0.91[EUR][1000 genomes]
rs67568738	0.91[EUR][1000 genomes]
rs67947224	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73178512	0.86[EUR][1000 genomes]
rs73404898	0.98[EUR][1000 genomes]
rs7786422	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
15	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100729400-100734000	Weak transcription	Fetal Brain Female	brain
2	chr7:100729400-100736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:100729400-100737800	Weak transcription	Small Intestine	intestine
4	chr7:100729400-100742600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:100729400-100742600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:100729400-100742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:100729400-100742800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:100729600-100732600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:100729600-100734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:100729600-100735000	Weak transcription	Fetal Kidney	kidney
11	chr7:100729600-100736600	Weak transcription	NH-A	brain
12	chr7:100729600-100742800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:100729800-100733000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:100729800-100733400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:100729800-100734800	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr7:100730000-100733200	Genic enhancers	Right Ventricle	heart
17	chr7:100730000-100733400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:100730000-100733400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:100730000-100733400	Strong transcription	Osteobl	bone
20	chr7:100730000-100733800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:100730200-100732600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr7:100730200-100733000	Genic enhancers	Placenta	Placenta
23	chr7:100730200-100733200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:100730200-100733400	Genic enhancers	Spleen	Spleen
25	chr7:100730200-100733600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:100730200-100734600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:100730200-100734800	Strong transcription	Fetal Thymus	thymus
28	chr7:100730200-100735000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:100730200-100735200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:100730200-100735400	Strong transcription	Fetal Stomach	stomach
31	chr7:100730400-100732400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:100730400-100732600	Weak transcription	Fetal Lung	lung
33	chr7:100730400-100732600	Genic enhancers	Placenta Amnion	Placenta Amnion
34	chr7:100730400-100732800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:100730400-100733000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:100730400-100733000	Genic enhancers	Pancreas	Pancrea
37	chr7:100730400-100733200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr7:100730400-100733200	Genic enhancers	Stomach Smooth Muscle	stomach
39	chr7:100730400-100733400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:100730400-100733400	Strong transcription	Brain Hippocampus Middle	brain
41	chr7:100730400-100733600	Strong transcription	Aorta	Aorta
42	chr7:100730400-100733800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr7:100730400-100734000	Weak transcription	Primary B cells from cord blood	blood
44	chr7:100730400-100734200	Strong transcription	Fetal Intestine Small	intestine
45	chr7:100730400-100734600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:100730400-100734800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:100730400-100734800	Strong transcription	Primary T cells from cord blood	blood
48	chr7:100730400-100734800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:100730400-100735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:100730400-100735000	Strong transcription	Primary monocytes fromperipheralblood	blood

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