Variant report

Variant	rs3810018
Chromosome Location	chr18:28623229-28623230
allele	A/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	MAX	chr18:28622079-28623294	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr18:28622310-28623339	A549	lung:	n/a	n/a
3	MYC	chr18:28622948-28623327	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr18:28623200-28623350	HMEC	breast:	n/a	n/a
5	RAD21	chr18:28622906-28623316	H1-hESC	embryonic stem cell:	n/a	n/a
6	KAP1	chr18:28620799-28623433	HEK293	kidney:	n/a	n/a
7	STAT3	chr18:28622741-28623250	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr18:28621804-28623302	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF263	chr18:28620841-28623317	HEK293-T-REx	kidney:	n/a	n/a
10	MAX	chr18:28622126-28623242	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr18:28618905-28623310	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr18:28622765-28623329	MCF10A-Er-Src	breast:	n/a	chr18:28623270-28623278
13	STAT3	chr18:28622721-28623245	MCF10A-Er-Src	breast:	n/a	n/a
14	TAF1	chr18:28622110-28623232	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr18:28620912-28623325	H1-hESC	embryonic stem cell:	n/a	chr18:28621645-28621654 chr18:28621932-28621939 chr18:28621326-28621340 chr18:28621932-28621939 chr18:28622853-28622862 chr18:28622195-28622202 chr18:28621931-28621943 chr18:28621932-28621939
16	CTBP2	chr18:28620948-28623230	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr18:28623100-28623250	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
DSC3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11081677	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12455894	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1583609	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17656913	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833613	chr18:28446454-28623599	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv961134	chr18:28612225-28625943	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28620400-28623400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr18:28620600-28623800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr18:28621000-28623400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr18:28621400-28623600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr18:28621600-28623400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr18:28622200-28623400	Active TSS	A549	lung
7	chr18:28622400-28623400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr18:28622800-28623400	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr18:28623000-28623400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28623000-28623400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:28623000-28623400	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr18:28623000-28623400	Flanking Active TSS	HMEC	breast
13	chr18:28623000-28623400	Flanking Active TSS	NHEK	skin
14	chr18:28623200-28623400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr18:28623200-28623400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr18:28623200-28623400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr18:28623200-28623400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr18:28623200-28623400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr18:28623200-28623400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
20	chr18:28623200-28623400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr18:28623200-28623800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:28623200-28625600	Weak transcription	Esophagus	oesophagus
23	chr18:28623200-28627600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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