Variant report

Variant	rs35477346
Chromosome Location	chr15:40400195-40400196
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	MAZ	chr15:40400007-40402078	IMR90	lung:	n/a	chr15:40401222-40401231
2	MAX	chr15:40399414-40400267	HepG2	liver:	n/a	chr15:40399701-40399711 chr15:40399702-40399711 chr15:40399700-40399713 chr15:40399701-40399712 chr15:40399702-40399711 chr15:40399701-40399712 chr15:40399701-40399711 chr15:40399702-40399711 chr15:40399701-40399712
3	ZBTB7A	chr15:40399926-40400198	K562	blood:	n/a	chr15:40400139-40400150
4	EP300	chr15:40399553-40400238	HepG2	liver:	n/a	n/a
5	ZNF263	chr15:40400066-40400849	HEK293-T-REx	kidney:	n/a	chr15:40400566-40400575 chr15:40400240-40400249 chr15:40400237-40400246 chr15:40400362-40400371
6	BRCA1	chr15:40399987-40400225	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:40398164-40401658	HepG2	liver:	n/a	n/a
8	HEY1	chr15:40400006-40400322	HepG2	liver:	n/a	n/a
9	STAT5A	chr15:40399480-40400534	GM12878	blood:	n/a	chr15:40400003-40400015
10	MTA3	chr15:40399754-40400755	GM12878	blood:	n/a	n/a
11	MXI1	chr15:40400093-40402267	SK-N-SH	brain:	n/a	n/a
12	HDAC2	chr15:40399887-40400360	HepG2	liver:	n/a	chr15:40400169-40400177
13	CHD2	chr15:40399980-40400219	K562	blood:	n/a	n/a
14	RUNX3	chr15:40399848-40400280	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:40399953-40401267	IMR90	lung:	n/a	n/a
16	HNF4A	chr15:40399899-40400214	HepG2	liver:	n/a	chr15:40400021-40400034 chr15:40400169-40400183 chr15:40400020-40400035 chr15:40400167-40400179 chr15:40400021-40400034
17	POLR2A	chr15:40398000-40400372	HepG2	liver:	n/a	n/a
18	SIN3A	chr15:40399535-40401812	H1-hESC	embryonic stem cell:	n/a	chr15:40399701-40399710 chr15:40401762-40401771 chr15:40399635-40399645 chr15:40399636-40399650 chr15:40400636-40400644 chr15:40400159-40400172
19	MAX	chr15:40399538-40400220	HepG2	liver:	n/a	chr15:40399701-40399711 chr15:40399702-40399711 chr15:40399700-40399713 chr15:40399701-40399712 chr15:40399702-40399711 chr15:40399701-40399712 chr15:40399701-40399711 chr15:40399702-40399711 chr15:40399701-40399712
20	CHD2	chr15:40399627-40400318	HepG2	liver:	n/a	n/a
21	SP1	chr15:40399495-40400266	HepG2	liver:	n/a	chr15:40400235-40400249 chr15:40400002-40400011 chr15:40400001-40400015 chr15:40399944-40399965
22	MXI1	chr15:40399482-40400205	HepG2	liver:	n/a	chr15:40399703-40399712 chr15:40399701-40399710
23	BHLHE40	chr15:40399632-40400561	HepG2	liver:	n/a	n/a
24	CHD2	chr15:40399877-40400195	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40399053..40404293-chr15:40451574..40455090,8	MCF-7	breast:
2	chr15:40328437..40331273-chr15:40400158..40402046,2	MCF-7	breast:
3	chr15:40321938..40324558-chr15:40397349..40402797,4	MCF-7	breast:

Variant related genes	Relation type
BMF	TF binding region
ENSG00000156970	Chromatin interaction
ENSG00000128829	Chromatin interaction
ENSG00000140319	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11630670	0.92[ASN][1000 genomes]
rs11634257	0.87[ASN][1000 genomes]
rs11637595	0.87[ASN][1000 genomes]
rs11637681	0.87[ASN][1000 genomes]
rs12909145	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1471584	0.92[ASN][1000 genomes]
rs34079741	0.94[ASN][1000 genomes]
rs34231574	0.88[ASN][1000 genomes]
rs34245505	0.90[ASN][1000 genomes]
rs35603048	0.88[ASN][1000 genomes]
rs537455	0.85[ASN][1000 genomes]
rs539846	0.90[ASN][1000 genomes]
rs56248706	0.97[EUR][1000 genomes]
rs8024033	0.96[ASN][1000 genomes]
rs8033229	0.90[ASN][1000 genomes]
rs9635304	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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 target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40389800-40400400	Enhancers	Small Intestine	intestine
2	chr15:40392000-40400400	Enhancers	Pancreas	Pancrea
3	chr15:40392200-40400200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:40393800-40400200	Enhancers	Esophagus	oesophagus
5	chr15:40394000-40400200	Enhancers	Left Ventricle	heart
6	chr15:40394800-40400200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr15:40395000-40400200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:40395200-40400200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:40395200-40400200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:40395400-40400400	Flanking Active TSS	GM12878-XiMat	blood
11	chr15:40395800-40400200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:40396200-40400200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:40396200-40400800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr15:40396400-40400200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr15:40396600-40400200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr15:40396600-40400400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:40396600-40400800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr15:40396800-40400200	Enhancers	Primary T cells from cord blood	blood
19	chr15:40396800-40400200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:40396800-40400200	Enhancers	Spleen	Spleen
21	chr15:40397000-40400800	Flanking Active TSS	Fetal Thymus	thymus
22	chr15:40397000-40400800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr15:40397200-40400200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:40397200-40400600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr15:40397400-40400200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr15:40397600-40400200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr15:40397600-40400200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:40397600-40400200	Weak transcription	Brain Angular Gyrus	brain
29	chr15:40397600-40400200	Weak transcription	Psoas Muscle	Psoas
30	chr15:40397600-40400400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:40397600-40400400	Enhancers	NHEK	skin
32	chr15:40398000-40400200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr15:40398200-40400800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr15:40398400-40400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:40398400-40400800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:40398600-40400200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:40398600-40400200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:40398600-40400800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr15:40398800-40400200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr15:40398800-40400200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:40398800-40400200	Enhancers	Aorta	Aorta
42	chr15:40398800-40400200	Flanking Active TSS	HepG2	liver
43	chr15:40398800-40400400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:40398800-40400400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr15:40398800-40401000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr15:40398800-40401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:40399000-40400200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr15:40399000-40400200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr15:40399000-40400400	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr15:40399000-40400600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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