Variant report

Variant	rs4806247
Chromosome Location	chr19:36485475-36485476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:36484781-36487173	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr19:36485454-36487100	HepG2	liver:	n/a	n/a
3	MTA3	chr19:36485157-36485547	GM12878	blood:	n/a	n/a
4	ZC3H11A	chr19:36485467-36486352	K562	blood:	n/a	n/a
5	STAT5A	chr19:36484955-36485564	GM12878	blood:	n/a	n/a
6	ELF1	chr19:36484749-36485579	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:36485435-36485479	HUVEC	blood vessel:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36485012..36486655-chr19:36544977..36546825,2	K562	blood:
2	chr19:36484913..36488286-chr19:36544915..36548972,3	MCF-7	breast:
3	chr19:36426653..36429173-chr19:36484778..36487537,2	MCF-7	breast:
4	chr19:36358705..36361314-chr19:36484649..36486725,2	K562	blood:
5	chr19:36436980..36438714-chr19:36484887..36486673,2	MCF-7	breast:
6	chr19:36484527..36490376-chr19:36543488..36547183,11	K562	blood:
7	chr19:35738670..35740513-chr19:36484821..36487724,2	K562	blood:
8	chr19:36484477..36488406-chr19:36502641..36506978,6	K562	blood:
9	chr19:36485209..36487448-chr19:36544116..36546055,2	MCF-7	breast:

No data

Variant related genes	Relation type
SDHAF1	TF binding region
ENSG00000267786	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000239382	Chromatin interaction
ENSG00000126243	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000267698	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1043822	0.84[ASN][1000 genomes]
rs10469279	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12460721	0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs12462677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17720402	0.94[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2073893	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2285423	0.92[ASN][1000 genomes]
rs2285424	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs3810449	0.81[JPT][hapmap]
rs3810450	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs4458134	0.89[ASN][1000 genomes]
rs4806245	0.94[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7256169	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7258897	0.85[ASN][1000 genomes]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36478600-36485600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:36479200-36485800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:36480600-36485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:36484200-36485600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36484400-36485600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:36484400-36485600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:36484800-36485600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:36484800-36485600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:36484800-36485800	Enhancers	Spleen	Spleen
10	chr19:36484800-36487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:36485000-36485600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr19:36485000-36485600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:36485000-36485600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr19:36485000-36485600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:36485000-36485600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:36485000-36485600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr19:36485000-36485600	Enhancers	Fetal Brain Male	brain
18	chr19:36485000-36485600	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr19:36485000-36485600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:36485000-36485600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr19:36485000-36485600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:36485000-36485600	Enhancers	Small Intestine	intestine
23	chr19:36485000-36485600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr19:36485000-36485600	Flanking Active TSS	GM12878-XiMat	blood
25	chr19:36485000-36485600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:36485000-36485800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr19:36485000-36486000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr19:36485000-36486600	Active TSS	Brain Angular Gyrus	brain
29	chr19:36485000-36486800	Active TSS	Brain Anterior Caudate	brain
30	chr19:36485000-36486800	Active TSS	Colon Smooth Muscle	Colon
31	chr19:36485000-36486800	Active TSS	Osteobl	bone
32	chr19:36485000-36487000	Active TSS	HSMMtube	muscle
33	chr19:36485000-36487600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:36485200-36485600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr19:36485200-36485600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:36485200-36485600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:36485200-36485600	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr19:36485200-36485600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:36485200-36485600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:36485200-36485600	Flanking Active TSS	Liver	Liver
41	chr19:36485200-36485600	Flanking Active TSS	Esophagus	oesophagus
42	chr19:36485200-36485600	Flanking Active TSS	Fetal Brain Female	brain
43	chr19:36485200-36485600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr19:36485200-36485600	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr19:36485200-36485600	Enhancers	Placenta	Placenta
46	chr19:36485200-36485600	Enhancers	Fetal Thymus	thymus
47	chr19:36485200-36485600	Flanking Active TSS	Lung	lung
48	chr19:36485200-36485600	Flanking Active TSS	Pancreas	Pancrea
49	chr19:36485200-36485600	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr19:36485200-36485600	Flanking Active TSS	Thymus	Thymus

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