Variant report

Variant	rs139436688
Chromosome Location	chr19:19515671-19515672
allele	-/G
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	MAX	chr19:19515608-19517578	A549	lung:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
2	MXI1	chr19:19515634-19518501	SK-N-SH	brain:	n/a	chr19:19517040-19517049
3	MXI1	chr19:19515533-19518803	IMR90	lung:	n/a	chr19:19517040-19517049
4	MYC	chr19:19515642-19516670	A549	lung:	n/a	chr19:19516393-19516403
5	CUX1	chr19:19515650-19516353	K562	blood:	n/a	n/a
6	IRF1	chr19:19515608-19516705	K562	blood:	n/a	chr19:19516462-19516476 chr19:19516359-19516373 chr19:19516388-19516402
7	MAZ	chr19:19515334-19518804	IMR90	lung:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
8	RCOR1	chr19:19515406-19516824	IMR90	lung:	n/a	n/a
9	HCFC1	chr19:19515645-19516827	Hela-S3	cervix:	n/a	n/a
10	E2F6	chr19:19515551-19516694	H1-hESC	embryonic stem cell:	n/a	chr19:19516596-19516606 chr19:19516392-19516401 chr19:19516597-19516607
11	FOS	chr19:19515574-19516533	MCF10A-Er-Src	breast:	n/a	chr19:19516195-19516206 chr19:19516195-19516207 chr19:19516197-19516205
12	MYC	chr19:19515664-19517990	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
13	MAX	chr19:19515641-19516688	K562	blood:	n/a	chr19:19516393-19516403
14	POLR2A	chr19:19515239-19518747	IMR90	lung:	n/a	n/a
15	MAX	chr19:19515589-19516843	HCT-116	colon:	n/a	chr19:19516393-19516403
16	ARID3A	chr19:19515367-19516654	K562	blood:	n/a	n/a
17	POLR2A	chr19:19515578-19517628	SK-N-MC	brain:	n/a	n/a
18	MAX	chr19:19515661-19517500	H1-hESC	embryonic stem cell:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
19	JUN	chr19:19515579-19516780	K562	blood:	n/a	chr19:19516195-19516207 chr19:19516197-19516205
20	CHD1	chr19:19515354-19518900	IMR90	lung:	n/a	chr19:19517346-19517356
21	CBX3	chr19:19515648-19516546	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19515119..19517741-chr19:19568755..19571176,2	MCF-7	breast:
2	chr19:19028947..19031173-chr19:19514626..19517474,2	K562	blood:
3	chr19:19515140..19518800-chr19:19574675..19578008,3	K562	blood:
4	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
5	chr19:19514082..19516953-chr19:19567668..19570496,2	K562	blood:
6	chr19:19514894..19516950-chr19:19536458..19538380,2	MCF-7	breast:
7	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
8	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
9	chr19:19514824..19526614-chr19:19535593..19543548,15	K562	blood:
10	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
11	chr19:19514840..19518062-chr19:19543803..19546421,4	K562	blood:
12	chr19:19494550..19497983-chr19:19513188..19518336,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267234	TF binding region
GATAD2A	TF binding region
ENSG00000105669	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000207821	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv3360569	chr19:19515477-19518325	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19497600-19515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19500600-19515800	Weak transcription	Right Ventricle	heart
3	chr19:19506000-19515800	Weak transcription	Colonic Mucosa	Colon
4	chr19:19506000-19515800	Weak transcription	Left Ventricle	heart
5	chr19:19506200-19515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:19506200-19515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:19506200-19515800	Weak transcription	Spleen	Spleen
8	chr19:19510200-19515800	Weak transcription	Aorta	Aorta
9	chr19:19511200-19515800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:19511200-19515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:19511200-19515800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:19511200-19515800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:19511200-19515800	Weak transcription	Brain Substantia Nigra	brain
14	chr19:19511200-19515800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:19511400-19515800	Weak transcription	Right Atrium	heart
16	chr19:19511600-19515800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:19511800-19515800	Weak transcription	Fetal Stomach	stomach
18	chr19:19512000-19515800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:19512400-19515800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr19:19513000-19515800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr19:19513600-19515800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:19513600-19515800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr19:19513800-19515800	Enhancers	Stomach Mucosa	stomach
24	chr19:19513800-19515800	Enhancers	HMEC	breast
25	chr19:19513800-19515800	Enhancers	HSMMtube	muscle
26	chr19:19514000-19515800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr19:19514000-19515800	Enhancers	NH-A	brain
28	chr19:19514200-19515800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr19:19514200-19515800	Enhancers	Small Intestine	intestine
30	chr19:19514400-19515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:19514400-19515800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:19514400-19515800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:19514400-19515800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:19514400-19515800	Weak transcription	Esophagus	oesophagus
35	chr19:19514400-19515800	Weak transcription	Fetal Lung	lung
36	chr19:19514400-19515800	Weak transcription	Gastric	stomach
37	chr19:19514400-19515800	Weak transcription	Pancreas	Pancrea
38	chr19:19514600-19515800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:19514600-19515800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:19514600-19515800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr19:19514600-19515800	Enhancers	NHEK	skin
42	chr19:19514800-19515800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:19514800-19515800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:19514800-19515800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:19514800-19515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:19515000-19515800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr19:19515000-19515800	Weak transcription	HSMM	muscle
48	chr19:19515200-19515800	Enhancers	Dnd41	blood
49	chr19:19515400-19515800	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:19515400-19515800	Enhancers	Primary hematopoietic stem cells	blood

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