Variant report

Variant	rs55651735
Chromosome Location	chr11:104840557-104840558
allele	C/T
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	MYBL2	chr11:104840165-104840671	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:104838965-104840618	HepG2	liver:	n/a	n/a
3	ELF1	chr11:104840186-104840572	HepG2	liver:	n/a	n/a
4	HEY1	chr11:104839034-104840602	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:104839605-104840593	HepG2	liver:	n/a	n/a
6	TEAD4	chr11:104840423-104840838	HepG2	liver:	n/a	n/a
7	MYBL2	chr11:104840052-104840674	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CASP4	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1801319	0.94[EUR][1000 genomes]
rs1944900	0.80[ASN][1000 genomes]
rs45504692	0.88[EUR][1000 genomes]
rs45530635	0.88[EUR][1000 genomes]
rs45569135	0.88[EUR][1000 genomes]
rs55634858	0.94[EUR][1000 genomes]
rs55721600	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55725142	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55747197	0.82[ASN][1000 genomes]
rs55781362	0.94[EUR][1000 genomes]
rs55932228	0.94[EUR][1000 genomes]
rs55973506	0.82[ASN][1000 genomes]
rs56011093	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56043157	0.94[EUR][1000 genomes]
rs56148606	0.82[ASN][1000 genomes]
rs56223154	0.82[ASN][1000 genomes]
rs56349036	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57049767	0.82[ASN][1000 genomes]
rs57760571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59367529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59580775	0.94[EUR][1000 genomes]
rs59769457	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119869	0.82[ASN][1000 genomes]
rs7131099	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72978960	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72978977	0.94[EUR][1000 genomes]
rs72978981	0.94[EUR][1000 genomes]
rs72978993	0.94[EUR][1000 genomes]
rs72978997	0.94[EUR][1000 genomes]
rs72978998	1.00[EUR][1000 genomes]
rs7941702	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
8	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104837000-104840600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:104837400-104840600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:104838000-104840600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:104838200-104840600	Active TSS	Stomach Smooth Muscle	stomach
5	chr11:104839200-104840600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:104839600-104840600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr11:104839800-104840600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:104840000-104840600	Enhancers	NHLF	lung
9	chr11:104840200-104840600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:104840200-104840600	Enhancers	Fetal Intestine Small	intestine
11	chr11:104840200-104840600	Enhancers	Fetal Muscle Leg	muscle
12	chr11:104840200-104840600	Enhancers	Placenta	Placenta
13	chr11:104840200-104840600	Active TSS	HepG2	liver
14	chr11:104840200-104841000	Enhancers	Fetal Intestine Large	intestine
15	chr11:104840200-104843000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:104840400-104840600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:104840400-104840600	Enhancers	Liver	Liver
18	chr11:104840400-104840600	Enhancers	Pancreas	Pancrea
19	chr11:104840400-104840600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:104840400-104840600	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr11:104840400-104840600	Enhancers	HMEC	breast
22	chr11:104840400-104840600	Enhancers	HUVEC	blood vessel

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