Variant report

Variant	rs12102230
Chromosome Location	chr15:93355727-93355728
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	HCFC1	chr15:93350713-93356004	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:93351286-93355878	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr15:93355660-93355844	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:93351229-93355921	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
2	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
3	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
4	chr15:93354049..93356255-chr15:93397954..93400757,2	K562	blood:
5	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:

Variant related genes	Relation type
FAM174B	TF binding region
ENSG00000258922	TF binding region
ENSG00000272888	Chromatin interaction
ENSG00000264123	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000264173	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12101581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12101782	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28455137	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28549279	1.00[EUR][1000 genomes]
rs28602250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv1042292	chr15:93286333-93374887	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv984199	chr15:93288362-93381522	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93351600-93355800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr15:93351600-93356000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:93353000-93355800	Flanking Active TSS	NHEK	skin
4	chr15:93353000-93363800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:93353200-93361200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:93353400-93361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:93353400-93362000	Weak transcription	Lung	lung
8	chr15:93353600-93356000	Enhancers	Placenta	Placenta
9	chr15:93354000-93361000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:93354200-93355800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:93354200-93361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:93354400-93355800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr15:93354400-93355800	Enhancers	Fetal Intestine Small	intestine
14	chr15:93354400-93355800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:93354400-93355800	Enhancers	Fetal Lung	lung
16	chr15:93354400-93356400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr15:93354400-93356400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr15:93354400-93356400	Weak transcription	Dnd41	blood
19	chr15:93354400-93356800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr15:93354400-93356800	Enhancers	Fetal Thymus	thymus
21	chr15:93354400-93357000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:93354400-93358000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr15:93354400-93358200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:93354400-93358800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr15:93354400-93363200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:93354600-93355800	Flanking Active TSS	Hela-S3	cervix
27	chr15:93354600-93356600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr15:93354800-93355800	Enhancers	Fetal Muscle Leg	muscle
29	chr15:93354800-93355800	Flanking Active TSS	A549	lung
30	chr15:93354800-93362600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:93355000-93355800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:93355000-93355800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:93355000-93355800	Enhancers	Fetal Heart	heart
34	chr15:93355000-93355800	Enhancers	HepG2	liver
35	chr15:93355000-93356200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:93355000-93356400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr15:93355000-93356800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr15:93355000-93360400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr15:93355000-93360600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr15:93355000-93360800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:93355000-93361200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:93355000-93361400	Weak transcription	Brain Germinal Matrix	brain
43	chr15:93355000-93361800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:93355000-93362400	Weak transcription	Psoas Muscle	Psoas
45	chr15:93355000-93362400	Weak transcription	Stomach Mucosa	stomach
46	chr15:93355200-93355800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:93355200-93355800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr15:93355200-93355800	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr15:93355200-93355800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr15:93355200-93356200	Enhancers	Primary T cells from cord blood	blood

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