Variant report

Variant	rs7174915
Chromosome Location	chr15:43421169-43421170
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	RXRA	chr15:43420849-43421235	HepG2	liver:	n/a	n/a
2	HNF4G	chr15:43420904-43421189	HepG2	liver:	n/a	chr15:43421034-43421049
3	EP300	chr15:43420892-43421293	HepG2	liver:	n/a	n/a
4	HNF4A	chr15:43420939-43421203	HepG2	liver:	n/a	chr15:43421033-43421048
5	SP1	chr15:43420747-43421342	HepG2	liver:	n/a	n/a
6	KAP1	chr15:43420308-43421341	K562	blood:	n/a	chr15:43420311-43420319
7	FOXA1	chr15:43420826-43421196	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43415478..43417953-chr15:43419432..43421358,2	K562	blood:
2	chr15:43415007..43417141-chr15:43420363..43422547,2	K562	blood:
3	chr15:43420217..43423038-chr15:43425655..43427533,2	K562	blood:
4	chr15:43419346..43423038-chr15:43423294..43427155,3	K562	blood:

Variant related genes	Relation type
SPCS2P1	TF binding region
TMEM62	TF binding region
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11070386	1.00[CEU][hapmap]
rs11070391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070396	0.89[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs11070398	0.86[EUR][1000 genomes]
rs11630595	1.00[CEU][hapmap]
rs11855754	0.90[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs12592725	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12899266	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1462856	1.00[CEU][hapmap]
rs16957511	0.89[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs1834643	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037392	0.82[CEU][hapmap]
rs2042742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2241516	0.90[CEU][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs2412751	0.81[YRI][hapmap]
rs28585036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs28756768	0.88[EUR][1000 genomes]
rs2899077	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2947019	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34646108	0.89[EUR][1000 genomes]
rs3784267	0.89[EUR][1000 genomes]
rs3784268	0.89[EUR][1000 genomes]
rs3803341	1.00[CEU][hapmap]
rs4573908	1.00[CEU][hapmap]
rs4923955	1.00[CEU][hapmap]
rs4924704	1.00[CEU][hapmap]
rs4924709	0.88[AMR][1000 genomes]
rs494863	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs495286	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs497138	0.89[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs499280	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs530305	0.89[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs531850	0.90[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs538218	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs540587	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6493076	1.00[CEU][hapmap]
rs6493077	1.00[CEU][hapmap]
rs7178567	1.00[CEU][hapmap]
rs7183814	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs8027371	0.80[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8027733	1.00[CEU][hapmap]
rs8037022	1.00[CEU][hapmap]
rs8042481	1.00[CEU][hapmap]

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	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7174915	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL
rs7174915	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43415600-43425200	Weak transcription	Gastric	stomach
2	chr15:43415800-43425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:43415800-43425000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr15:43415800-43425000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:43415800-43425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:43415800-43425000	Weak transcription	Aorta	Aorta
7	chr15:43415800-43425000	Weak transcription	Brain Anterior Caudate	brain
8	chr15:43415800-43425200	Weak transcription	Esophagus	oesophagus
9	chr15:43416200-43425000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:43417600-43425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:43417600-43425000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:43418000-43422200	Enhancers	HepG2	liver
13	chr15:43418200-43422000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr15:43418400-43425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:43419800-43421800	Weak transcription	Small Intestine	intestine
16	chr15:43419800-43425000	Weak transcription	Colonic Mucosa	Colon
17	chr15:43420000-43425000	Weak transcription	Pancreas	Pancrea
18	chr15:43420000-43425000	Weak transcription	Stomach Mucosa	stomach
19	chr15:43420200-43424600	Weak transcription	A549	lung
20	chr15:43420200-43425000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:43420400-43424400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:43420400-43425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:43421000-43421400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr15:43421000-43421800	Weak transcription	Fetal Intestine Large	intestine
25	chr15:43421000-43424800	Weak transcription	Duodenum Mucosa	Duodenum

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