Variant report

Variant	rs1473130
Chromosome Location	chr14:72084796-72084797
allele	C/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	TBP	chr14:72084760-72085897	GM12878	blood:	n/a	n/a
2	RELA	chr14:72084760-72086570	GM12878	blood:	n/a	n/a
3	EBF1	chr14:72084761-72085032	GM12878	blood:	n/a	chr14:72084971-72084982 chr14:72084917-72084928
4	YY1	chr14:72084759-72085063	GM12878	blood:	n/a	n/a
5	EBF1	chr14:72084740-72085176	GM12878	blood:	n/a	chr14:72084971-72084982 chr14:72084917-72084928
6	POLR2A	chr14:72084655-72085065	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:72084632-72085135	GM12878	blood:	n/a	n/a
8	POU2F2	chr14:72084727-72085068	GM12891	blood:	n/a	n/a
9	POLR2A	chr14:72084709-72085097	GM12892	blood:	n/a	n/a
10	EBF1	chr14:72084796-72085143	GM12878	blood:	n/a	chr14:72084971-72084982 chr14:72084917-72084928
11	POLR2A	chr14:72084704-72085106	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72079358..72081183-chr14:72081812..72085209,3	MCF-7	breast:

Variant related genes	Relation type
SIPA1L1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11624555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs11629264	0.83[EUR][1000 genomes]
rs12147154	0.97[EUR][1000 genomes]
rs17100926	0.94[YRI][hapmap]
rs45440200	0.80[ASN][1000 genomes]
rs60065332	0.80[EUR][1000 genomes]
rs72729956	0.82[AFR][1000 genomes];0.83[EUR][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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72053400-72098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:72055200-72087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:72059000-72098600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:72059400-72088000	Weak transcription	NHLF	lung
5	chr14:72059800-72085600	Weak transcription	NH-A	brain
6	chr14:72059800-72087600	Weak transcription	Hela-S3	cervix
7	chr14:72063200-72087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:72064800-72084800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:72064800-72085000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:72065000-72087200	Weak transcription	NHEK	skin
11	chr14:72065200-72085400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:72065400-72085600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:72065800-72085600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:72065800-72089600	Weak transcription	HSMMtube	muscle
15	chr14:72071400-72085400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:72072600-72087000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:72072600-72090600	Weak transcription	Fetal Intestine Large	intestine
18	chr14:72072600-72103600	Weak transcription	Left Ventricle	heart
19	chr14:72072800-72087200	Weak transcription	Aorta	Aorta
20	chr14:72073200-72085400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:72073200-72085600	Weak transcription	HSMM	muscle
22	chr14:72073200-72087200	Weak transcription	Fetal Intestine Small	intestine
23	chr14:72073200-72087400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:72073200-72090600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:72073200-72099200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:72073200-72137800	Weak transcription	Esophagus	oesophagus
27	chr14:72073400-72090600	Weak transcription	Pancreas	Pancrea
28	chr14:72073400-72093600	Weak transcription	Gastric	stomach
29	chr14:72073400-72111000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:72073600-72085800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:72074000-72085800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:72074000-72089800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:72074000-72090600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:72074000-72090600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:72074400-72085400	Weak transcription	Primary T cells from cord blood	blood
36	chr14:72075000-72087600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:72075000-72087800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:72075200-72085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:72075200-72087200	Weak transcription	Dnd41	blood
40	chr14:72075200-72092600	Weak transcription	Brain Substantia Nigra	brain
41	chr14:72075200-72093800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:72075200-72106800	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:72077600-72085800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:72077800-72085800	Weak transcription	Brain Angular Gyrus	brain
45	chr14:72077800-72088600	Weak transcription	Brain Germinal Matrix	brain
46	chr14:72077800-72089800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:72077800-72092800	Weak transcription	Fetal Lung	lung
48	chr14:72077800-72096800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:72078000-72085000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:72078000-72087000	Weak transcription	Muscle Satellite Cultured Cells	--

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