Variant report

Variant	rs11070310
Chromosome Location	chr15:41242208-41242209
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	CEBPB	chr15:41242201-41242376	K562	blood:	n/a	n/a
2	STAT3	chr15:41242038-41242293	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr15:41242180-41242380	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA1	chr15:41242089-41242491	PBDE	blood:	n/a	chr15:41242212-41242229
5	MYC	chr15:41242187-41242347	K562	blood:	n/a	n/a
6	JUND	chr15:41242153-41242390	K562	blood:	n/a	n/a
7	FOS	chr15:41242125-41242294	MCF10A-Er-Src	breast:	n/a	n/a
8	HNF4A	chr15:41242196-41242411	HepG2	liver:	n/a	n/a
9	MYC	chr15:41241980-41242414	MCF10A-Er-Src	breast:	n/a	chr15:41242161-41242171
10	ATF1	chr15:41242097-41242325	K562	blood:	n/a	n/a
11	FOS	chr15:41242027-41242426	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr15:41242104-41242298	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr15:41242018-41242373	MCF10A-Er-Src	breast:	n/a	n/a
14	HNF4G	chr15:41242160-41242427	HepG2	liver:	n/a	n/a
15	EP300	chr15:41242118-41242370	K562	blood:	n/a	chr15:41242267-41242280
16	HNF4A	chr15:41242171-41242383	HepG2	liver:	n/a	n/a
17	STAT3	chr15:41242126-41242316	MCF10A-Er-Src	breast:	n/a	n/a
18	TBL1XR1	chr15:41242082-41242270	K562	blood:	n/a	n/a
19	MYC	chr15:41242106-41242401	MCF10A-Er-Src	breast:	n/a	chr15:41242161-41242171
20	BHLHE40	chr15:41242143-41242306	K562	blood:	n/a	n/a
21	MYC	chr15:41242062-41242262	K562	blood:	n/a	chr15:41242161-41242171
22	IRF1	chr15:41242103-41242292	K562	blood:	n/a	n/a
23	CUX1	chr15:41242155-41242424	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41164626..41166627-chr15:41240824..41242386,2	MCF-7	breast:
2	chr15:41219948..41223850-chr15:41241031..41249080,13	K562	blood:
3	chr15:41242010..41243901-chr15:41308685..41310962,2	MCF-7	breast:
4	chr15:41241650..41243444-chr15:41244246..41246141,3	MCF-7	breast:

Variant related genes	Relation type
ISCA1P4	TF binding region
CHAC1	TF binding region
ENSG00000128965	Chromatin interaction
ENSG00000259521	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000128917	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11070309	0.82[AFR][1000 genomes]
rs2899004	1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55805015	0.83[EUR][1000 genomes]
rs56038127	0.83[EUR][1000 genomes]
rs73402523	0.83[EUR][1000 genomes]
rs74014718	0.83[EUR][1000 genomes]
rs936223	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41235400-41244600	Weak transcription	NHLF	lung
2	chr15:41235800-41244800	Weak transcription	Esophagus	oesophagus
3	chr15:41236200-41244600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:41238600-41244400	Weak transcription	GM12878-XiMat	blood
5	chr15:41240800-41242600	Enhancers	K562	blood
6	chr15:41241200-41242400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr15:41241200-41244000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:41241200-41244200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:41241400-41242400	Enhancers	Adipose Nuclei	Adipose
10	chr15:41241400-41242400	Enhancers	Duodenum Mucosa	Duodenum
11	chr15:41241400-41242400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:41241400-41242600	Enhancers	Fetal Intestine Small	intestine
13	chr15:41241400-41242600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:41241400-41243000	Enhancers	Liver	Liver
15	chr15:41241400-41244400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:41241400-41244600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:41241600-41242400	Enhancers	Psoas Muscle	Psoas
18	chr15:41241600-41242400	Bivalent Enhancer	HepG2	liver
19	chr15:41241600-41242600	Enhancers	Fetal Intestine Large	intestine
20	chr15:41241600-41244400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:41241600-41244400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:41241800-41242400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr15:41241800-41242400	Enhancers	Hela-S3	cervix
24	chr15:41241800-41244400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:41241800-41244600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:41241800-41244600	Weak transcription	Fetal Thymus	thymus
27	chr15:41241800-41244600	Weak transcription	Gastric	stomach
28	chr15:41242000-41244200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:41242000-41244400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:41242000-41244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:41242000-41244400	Weak transcription	Colonic Mucosa	Colon
32	chr15:41242000-41244400	Weak transcription	Pancreas	Pancrea
33	chr15:41242000-41244400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:41242000-41244600	Weak transcription	Left Ventricle	heart
35	chr15:41242200-41242400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:41242200-41242400	Enhancers	NHEK	skin
37	chr15:41242200-41244000	Weak transcription	Stomach Mucosa	stomach
38	chr15:41242200-41244400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:41242200-41244400	Weak transcription	Lung	lung
40	chr15:41242200-41244400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr15:41242200-41244600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr15:41242200-41244600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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