Variant report

Variant	rs1611115
Chromosome Location	chr9:136500515-136500516
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	EP300	chr9:136496722-136504328	SK-N-SH	brain:	n/a	chr9:136503169-136503185 chr9:136499746-136499762 chr9:136501313-136501320 chr9:136497018-136497034 chr9:136499140-136499150
2	ZNF263	chr9:136500129-136500653	HEK293-T-REx	kidney:	n/a	chr9:136500378-136500399
3	EP300	chr9:136500223-136500521	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000261018	TF binding region
DBH	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2519143	0.93[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894077	chr9:136166346-136515297	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv894094	chr9:136311679-136528721	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894100	chr9:136371224-136547602	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv870051	chr9:136459745-136656889	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv894105	chr9:136479571-136518097	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv982600	chr9:136488979-136503321	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv894106	chr9:136489539-136566959	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv469906	chr9:136494566-136509083	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv894107	chr9:136494566-136579589	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv466615	chr9:136498143-136505241	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv615638	chr9:136498143-136505241	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1611115	DBH	cis	multi-tissue	Pritchard

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136496400-136500800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:136496800-136501200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr9:136497200-136501200	Enhancers	Fetal Thymus	thymus
4	chr9:136497400-136500800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:136497400-136501200	Bivalent Enhancer	Placenta	Placenta
6	chr9:136497800-136500600	Enhancers	Fetal Lung	lung
7	chr9:136497800-136500800	Enhancers	Brain Germinal Matrix	brain
8	chr9:136497800-136500800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr9:136498000-136500800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:136498000-136501000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr9:136498000-136501800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr9:136498000-136501800	Enhancers	Spleen	Spleen
13	chr9:136498400-136501400	Weak transcription	Right Atrium	heart
14	chr9:136498800-136500800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr9:136498800-136501800	Enhancers	Fetal Brain Male	brain
16	chr9:136499200-136500800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:136499200-136502800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:136499200-136502800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:136499200-136503000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:136499400-136500600	Enhancers	Gastric	stomach
21	chr9:136499800-136500800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:136499800-136501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:136499800-136502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:136500000-136501000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:136500000-136502800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:136500000-136503000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:136500200-136501200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:136500200-136502600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:136500400-136500600	Enhancers	Fetal Brain Female	brain
30	chr9:136500400-136500600	Bivalent Enhancer	Thymus	Thymus
31	chr9:136500400-136502800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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