Variant report

Variant	rs4899200
Chromosome Location	chr14:39737911-39737912
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	RCOR1	chr14:39737477-39738053	K562	blood:	n/a	n/a
2	CHD1	chr14:39735032-39737962	IMR90	lung:	n/a	chr14:39736859-39736869 chr14:39736513-39736523
3	TEAD4	chr14:39734810-39738248	HepG2	liver:	n/a	n/a
4	MYC	chr14:39736823-39737928	MCF10A-Er-Src	breast:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737508-39737517 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
5	STAT3	chr14:39737815-39738086	GM12878	blood:	n/a	n/a
6	MAFK	chr14:39737532-39737975	HepG2	liver:	n/a	chr14:39737693-39737710
7	MAFK	chr14:39734809-39738020	Hela-S3	cervix:	n/a	chr14:39736304-39736319 chr14:39737693-39737710 chr14:39737177-39737188 chr14:39735112-39735123
8	SREBP1	chr14:39735131-39738498	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:39737616-39738190	HepG2	liver:	n/a	n/a
10	MAFF	chr14:39737516-39737926	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
2	chr14:39737724..39741488-chr14:39742832..39745249,3	K562	blood:
3	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
4	chr14:39652053..39654773-chr14:39736732..39739387,2	K562	blood:
5	chr14:39565337..39567780-chr14:39737837..39739519,2	MCF-7	breast:
6	chr14:39736982..39739247-chr14:39739513..39742286,3	K562	blood:
7	chr14:39734713..39738415-chr14:39740999..39745819,7	MCF-7	breast:
8	chr14:39647303..39649184-chr14:39736283..39738077,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258940	TF binding region
ENSG00000150527	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10145517	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs10149896	0.81[JPT][hapmap]
rs10872918	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs17109068	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs17109118	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs17693410	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2274397	0.90[JPT][hapmap]
rs4393482	0.89[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs6571920	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7141921	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs7148572	0.81[JPT][hapmap]
rs8017650	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs8018486	0.89[JPT][hapmap]
rs8019758	0.86[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39734400-39738000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:39734400-39738200	Active TSS	Aorta	Aorta
3	chr14:39734600-39738200	Active TSS	HSMMtube	muscle
4	chr14:39734600-39738800	Active TSS	Psoas Muscle	Psoas
5	chr14:39734800-39738200	Active TSS	Brain Angular Gyrus	brain
6	chr14:39735000-39738000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr14:39735200-39738000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:39735200-39738000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:39735400-39738000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:39735600-39738000	Active TSS	A549	lung
11	chr14:39735600-39738200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:39735600-39738200	Active TSS	Stomach Smooth Muscle	stomach
13	chr14:39735800-39738000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:39736000-39738000	Active TSS	Primary T cells fromperipheralblood	blood
15	chr14:39736000-39738000	Active TSS	HMEC	breast
16	chr14:39736600-39738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:39736600-39739000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:39736800-39738000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr14:39736800-39738200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr14:39736800-39738200	Flanking Active TSS	Dnd41	blood
21	chr14:39737000-39738000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:39737000-39738000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr14:39737000-39738000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:39737000-39738200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr14:39737000-39738200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr14:39737000-39738200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr14:39737000-39738200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr14:39737000-39738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:39737000-39741000	Weak transcription	Spleen	Spleen
30	chr14:39737000-39751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:39737200-39738000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr14:39737200-39738000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:39737200-39738000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:39737200-39738000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr14:39737200-39738000	Flanking Active TSS	Fetal Kidney	kidney
36	chr14:39737200-39738000	Flanking Active TSS	Osteobl	bone
37	chr14:39737200-39738200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr14:39737200-39738400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:39737200-39738800	Weak transcription	Left Ventricle	heart
40	chr14:39737200-39738800	Weak transcription	Pancreas	Pancrea
41	chr14:39737200-39739200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr14:39737200-39741600	Weak transcription	Esophagus	oesophagus
43	chr14:39737400-39738000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr14:39737400-39738000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr14:39737400-39738000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr14:39737400-39738000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr14:39737400-39738000	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr14:39737400-39738000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr14:39737400-39738200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr14:39737400-39738200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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