Variant report

Variant	rs11630438
Chromosome Location	chr15:74478512-74478513
allele	A/C
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	GATA3	chr15:74478030-74478615	MCF-7	breast:	n/a	n/a
2	POLR2A	chr15:74477208-74478558	A549	lung:	n/a	n/a
3	HDAC2	chr15:74478074-74478594	MCF-7	breast:	n/a	chr15:74478325-74478334
4	FOS	chr15:74478420-74478545	MCF10A-Er-Src	breast:	n/a	n/a
5	HDAC2	chr15:74478120-74478600	MCF-7	breast:	n/a	chr15:74478325-74478334
6	FOS	chr15:74478411-74478631	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr15:74478380-74478675	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA3	chr15:74478146-74478555	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74477830..74479940-chr15:74481480..74483032,2	MCF-7	breast:
2	chr15:74464539..74466553-chr15:74477409..74479282,2	MCF-7	breast:
3	chr15:74426280..74428473-chr15:74476788..74479441,2	MCF-7	breast:
4	chr15:74476268..74481114-chr15:74481144..74486021,6	MCF-7	breast:
5	chr15:74468916..74471772-chr15:74477049..74479874,2	MCF-7	breast:

Variant related genes	Relation type
STRA6	TF binding region
ENSG00000129009	Chromatin interaction
ENSG00000261543	Chromatin interaction
ENSG00000137868	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11635868	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2277608	0.91[AFR][1000 genomes]
rs351225	0.90[ASN][1000 genomes]
rs351226	0.91[ASN][1000 genomes]
rs351229	0.91[ASN][1000 genomes]
rs351230	0.91[ASN][1000 genomes]
rs351237	0.82[ASN][1000 genomes]
rs351238	0.83[ASN][1000 genomes]
rs736118	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:74466600-74480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:74469200-74491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:74469400-74487600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:74470600-74484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:74470800-74492800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:74473600-74488200	Weak transcription	Right Atrium	heart
9	chr15:74474000-74483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr15:74474600-74487200	Weak transcription	Fetal Intestine Small	intestine
11	chr15:74475200-74480000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:74475600-74483000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:74476400-74482600	Weak transcription	A549	lung
14	chr15:74477000-74479800	Enhancers	GM12878-XiMat	blood
15	chr15:74477400-74478600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:74477400-74479400	Strong transcription	Placenta	Placenta
17	chr15:74477400-74481400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:74477600-74478600	Enhancers	NHDF-Ad	bronchial
19	chr15:74477600-74478600	Enhancers	Osteobl	bone
20	chr15:74477800-74478600	Enhancers	Esophagus	oesophagus
21	chr15:74477800-74478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:74477800-74479400	Enhancers	NH-A	brain
23	chr15:74478000-74478600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:74478000-74478600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:74478000-74478600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:74478000-74478600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr15:74478000-74478600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:74478000-74478800	Enhancers	NHEK	skin
29	chr15:74478000-74481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:74478200-74478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:74478200-74478600	Enhancers	HSMM	muscle
32	chr15:74478200-74479200	Weak transcription	Fetal Thymus	thymus
33	chr15:74478200-74482600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:74478400-74479400	Weak transcription	Fetal Stomach	stomach

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