Variant report

Variant	rs351226
Chromosome Location	chr15:74484682-74484683
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	RFX5	chr15:74483545-74484881	SK-N-SH	brain:	n/a	chr15:74484418-74484433 chr15:74484420-74484437 chr15:74484421-74484436 chr15:74484421-74484436 chr15:74484421-74484436
2	RFX5	chr15:74484034-74484736	IMR90	lung:	n/a	chr15:74484418-74484433 chr15:74484420-74484437 chr15:74484421-74484436 chr15:74484421-74484436 chr15:74484421-74484436

No.	Distal block	Cell Line	Cell type
1	chr15:74483505..74486452-chr15:74486727..74489080,2	MCF-7	breast:
2	chr15:74471188..74474733-chr15:74480852..74485546,5	MCF-7	breast:
3	chr15:74481853..74488513-chr15:74489689..74497281,13	MCF-7	breast:
4	chr15:74474607..74476974-chr15:74483546..74486134,2	K562	blood:

Variant related genes	Relation type
STRA6	TF binding region
ENSG00000259264	Chromatin interaction
ENSG00000137868	Chromatin interaction
ENSG00000261543	Chromatin interaction

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

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

rs_ID	r²[population]
rs11630438	0.91[ASN][1000 genomes]
rs11635868	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2277608	0.84[ASN][1000 genomes]
rs351225	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351229	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351233	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs351237	0.89[ASN][1000 genomes]
rs351238	0.89[ASN][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:39 , 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	chr15:74469200-74491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:74469400-74487600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:74470800-74492800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:74473600-74488200	Weak transcription	Right Atrium	heart
7	chr15:74474600-74487200	Weak transcription	Fetal Intestine Small	intestine
8	chr15:74478600-74485000	Weak transcription	Esophagus	oesophagus
9	chr15:74478600-74491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:74479400-74485000	Weak transcription	NH-A	brain
11	chr15:74479800-74484800	Weak transcription	GM12878-XiMat	blood
12	chr15:74480600-74491800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:74480800-74486400	Genic enhancers	Placenta	Placenta
14	chr15:74481000-74488400	Weak transcription	Right Ventricle	heart
15	chr15:74482600-74484800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr15:74482600-74485200	Strong transcription	A549	lung
17	chr15:74482800-74488000	Strong transcription	Fetal Stomach	stomach
18	chr15:74483000-74484800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:74483000-74485000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:74483200-74485200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:74483600-74486800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:74483800-74486600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:74483800-74488200	Enhancers	Hela-S3	cervix
24	chr15:74484000-74484800	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:74484000-74485000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:74484000-74485000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:74484000-74485000	Enhancers	Adipose Nuclei	Adipose
28	chr15:74484000-74485400	Enhancers	Fetal Muscle Leg	muscle
29	chr15:74484000-74485600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:74484000-74485800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:74484000-74487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:74484000-74490000	Enhancers	HSMM	muscle
33	chr15:74484200-74486600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:74484400-74485000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:74484400-74485400	Weak transcription	NHDF-Ad	bronchial
36	chr15:74484400-74485800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:74484600-74485200	Enhancers	Lung	lung
38	chr15:74484600-74485400	Enhancers	Fetal Thymus	thymus
39	chr15:74484600-74487400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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