Variant report

Variant	rs4743855
Chromosome Location	chr9:94581258-94581259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94575900..94578539-chr9:94580415..94582024,2	MCF-7	breast:
2	chr9:94580430..94582585-chr9:94584118..94590050,5	K562	blood:
3	chr9:94568416..94571660-chr9:94580532..94583534,3	K562	blood:
4	chr9:94580430..94582759-chr9:94584118..94590023,5	K562	blood:
5	chr9:94579358..94582251-chr9:94586460..94588565,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1881389	0.91[ASW][hapmap]
rs7029814	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4743855	SPTLC1	cis	parietal	SCAN
rs4743855	CDK20	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94572400-94587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:94576800-94586200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:94578200-94582000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:94578800-94581600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:94579000-94581800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:94579000-94582000	Enhancers	K562	blood
7	chr9:94579200-94581400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr9:94579200-94584000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr9:94579400-94581400	Enhancers	Fetal Brain Male	brain
10	chr9:94579400-94581800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:94579400-94581800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:94579600-94581800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:94580000-94583600	Weak transcription	Gastric	stomach
14	chr9:94580000-94585000	Weak transcription	Esophagus	oesophagus
15	chr9:94580200-94583800	Weak transcription	Pancreas	Pancrea
16	chr9:94580400-94581400	Enhancers	Fetal Stomach	stomach
17	chr9:94580400-94581600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:94580400-94581600	Enhancers	Brain Germinal Matrix	brain
19	chr9:94580400-94582800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:94580600-94581400	Enhancers	Ovary	ovary
21	chr9:94580600-94581400	Enhancers	Stomach Smooth Muscle	stomach
22	chr9:94580600-94581600	Enhancers	Fetal Lung	lung
23	chr9:94580600-94581800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:94580600-94583400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:94580600-94583400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:94580800-94581600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:94580800-94581600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr9:94581000-94581600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:94581000-94581800	Enhancers	Spleen	Spleen
30	chr9:94581000-94583400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:94581000-94583400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:94581000-94586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:94581200-94581400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:94581200-94581400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:94581200-94581400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr9:94581200-94581600	Weak transcription	Fetal Kidney	kidney
37	chr9:94581200-94583600	Weak transcription	Colon Smooth Muscle	Colon

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