Variant report

Variant	rs603093
Chromosome Location	chr11:74178207-74178208
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:74177910-74179403	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr11:74172545-74179851	SK-N-MC	brain:	n/a	n/a
3	ZNF263	chr11:74177788-74178930	K562	blood:	n/a	n/a
4	CTCF	chr11:74178120-74178270	AG04449	skin:	n/a	n/a
5	TEAD4	chr11:74178004-74179007	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:74178059-74179045	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr11:74178022-74179581	ECC-1	luminal epithelium:	n/a	chr11:74179207-74179214 chr11:74178098-74178105
8	NFIC	chr11:74178148-74179179	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr11:74177671-74179383	NB4	blood:	n/a	n/a
10	TEAD4	chr11:74178064-74179413	ECC-1	luminal epithelium:	n/a	n/a
11	ZBTB7A	chr11:74178016-74179147	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr11:74177951-74179132	ECC-1	luminal epithelium:	n/a	n/a
13	E2F6	chr11:74178172-74178311	K562	blood:	n/a	n/a
14	TCF12	chr11:74178109-74180436	ECC-1	luminal epithelium:	n/a	chr11:74179207-74179214
15	POLR2A	chr11:74177284-74178973	SK-N-MC	brain:	n/a	n/a
16	ZNF143	chr11:74177981-74178254	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr11:74177783-74179299	NB4	blood:	n/a	n/a
18	CTCF	chr11:74178160-74178310	HCPEpiC	choroid plexus:	n/a	n/a
19	EP300	chr11:74178089-74179675	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr11:74178199-74179104	ECC-1	luminal epithelium:	n/a	n/a
21	TEAD4	chr11:74178057-74178459	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:74177872-74179345	NB4	blood:	n/a	n/a
23	TAF1	chr11:74178143-74179047	ECC-1	luminal epithelium:	n/a	n/a
24	ZBTB7A	chr11:74178059-74179154	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr11:74178140-74178290	HCPEpiC	choroid plexus:	n/a	n/a
26	ESR1	chr11:74178207-74179104	ECC-1	luminal epithelium:	n/a	n/a
27	BACH1	chr11:74178080-74178552	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:74178180-74178330	AoAF	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
2	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
3	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:

No data

Variant related genes	Relation type
KCNE3	TF binding region
ENSG00000175536	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000254837	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11602340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12365702	0.81[EUR][1000 genomes]
rs1279972	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4944893	0.90[CHB][hapmap]
rs626930	0.81[CHB][hapmap]
rs683144	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs684877	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv393	chr11:74135862-74181417	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv897913	chr11:74171997-74216705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74175000-74179600	Enhancers	HepG2	liver
2	chr11:74176600-74178800	Active TSS	Duodenum Mucosa	Duodenum
3	chr11:74176600-74179000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:74177000-74178800	Active TSS	Stomach Mucosa	stomach
5	chr11:74177000-74179200	Active TSS	Colonic Mucosa	Colon
6	chr11:74177200-74179000	Active TSS	Gastric	stomach
7	chr11:74177200-74179000	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:74177400-74179000	Active TSS	Fetal Kidney	kidney
9	chr11:74177600-74178600	Active TSS	Small Intestine	intestine
10	chr11:74177600-74179200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:74177800-74178400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:74177800-74178400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:74177800-74178600	Flanking Active TSS	Liver	Liver
14	chr11:74177800-74178600	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr11:74177800-74178800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:74177800-74178800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:74177800-74178800	Active TSS	Brain Angular Gyrus	brain
18	chr11:74177800-74178800	Active TSS	Brain Cingulate Gyrus	brain
19	chr11:74177800-74178800	Active TSS	Colon Smooth Muscle	Colon
20	chr11:74177800-74178800	Active TSS	Fetal Intestine Small	intestine
21	chr11:74177800-74178800	Flanking Active TSS	Placenta	Placenta
22	chr11:74177800-74178800	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr11:74177800-74179000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr11:74177800-74179000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:74177800-74179000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:74177800-74179000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr11:74177800-74179000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:74177800-74179000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:74177800-74179000	Active TSS	Brain Anterior Caudate	brain
30	chr11:74177800-74179000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:74177800-74179000	Active TSS	Brain Substantia Nigra	brain
32	chr11:74177800-74179000	Active TSS	Fetal Intestine Large	intestine
33	chr11:74178000-74178400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:74178000-74178400	Active TSS	Primary B cells from cord blood	blood
35	chr11:74178000-74178400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr11:74178000-74178400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:74178000-74178400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
38	chr11:74178000-74178400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:74178000-74178400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:74178000-74178400	Enhancers	Fetal Heart	heart
41	chr11:74178000-74178400	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr11:74178000-74178600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:74178000-74178600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:74178000-74178600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr11:74178000-74178600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr11:74178000-74178600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:74178000-74178600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr11:74178000-74178600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr11:74178000-74178600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr11:74178000-74178600	Flanking Active TSS	Right Ventricle	heart

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