Variant report

Variant	rs1475034
Chromosome Location	chr14:69340760-69340761
allele	A/C
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	POLR2A	chr14:69340579-69340796	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69339299..69343925-chr14:69346207..69350701,5	K562	blood:
2	chr14:69339299..69342243-chr14:69346709..69349197,2	K562	blood:
3	chr14:69334968..69337458-chr14:69339261..69341131,2	MCF-7	breast:
4	chr14:69340121..69342574-chr14:69346978..69348522,2	MCF-7	breast:

Variant related genes	Relation type
BLZF2P	TF binding region
ENSG00000072110	Chromatin interaction
ENSG00000258565	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10139065	0.81[EUR][1000 genomes]
rs10139069	0.81[EUR][1000 genomes]
rs10151103	0.81[EUR][1000 genomes]
rs1475035	1.00[ASW][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1742493	0.81[EUR][1000 genomes]
rs1742495	0.81[EUR][1000 genomes]
rs1742496	0.81[EUR][1000 genomes]
rs1742498	0.81[EUR][1000 genomes]
rs1742886	0.81[EUR][1000 genomes]
rs1742890	0.81[EUR][1000 genomes]
rs194718	1.00[CHB][hapmap]
rs2093010	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2273419	1.00[CHD][hapmap]
rs4312253	0.84[TSI][hapmap]
rs4902662	0.81[EUR][1000 genomes]
rs61987505	0.80[EUR][1000 genomes]
rs6573861	0.81[EUR][1000 genomes]
rs7149938	0.81[EUR][1000 genomes]
rs7149956	0.81[EUR][1000 genomes]
rs7401911	0.81[EUR][1000 genomes]

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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902074	chr14:69339691-69360631	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
2	chr14:69330200-69348200	Weak transcription	K562	blood
3	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
5	chr14:69334000-69349600	Weak transcription	Fetal Kidney	kidney
6	chr14:69334000-69350800	Strong transcription	NH-A	brain
7	chr14:69334200-69346400	Weak transcription	Stomach Mucosa	stomach
8	chr14:69336200-69341400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:69336200-69349600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:69336200-69350800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:69336200-69351200	Strong transcription	HSMM	muscle
12	chr14:69336400-69341400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:69336400-69341600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:69336400-69350800	Strong transcription	NHLF	lung
15	chr14:69336400-69350800	Strong transcription	Osteobl	bone
16	chr14:69336400-69358800	Strong transcription	HSMMtube	muscle
17	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
19	chr14:69336600-69348000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:69336600-69350600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr14:69336600-69351000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:69336600-69351000	Strong transcription	Adipose Nuclei	Adipose
23	chr14:69336600-69358600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:69336800-69341200	Weak transcription	Fetal Brain Female	brain
25	chr14:69336800-69343800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69336800-69360400	Weak transcription	Right Atrium	heart
27	chr14:69337000-69343200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:69337200-69342400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:69337400-69341400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:69337400-69341400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:69337400-69341400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:69337400-69348000	Weak transcription	Brain Substantia Nigra	brain
33	chr14:69337400-69350800	Weak transcription	Psoas Muscle	Psoas
34	chr14:69337400-69351400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:69337400-69353000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
37	chr14:69337600-69341400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr14:69337600-69341400	Strong transcription	Fetal Intestine Small	intestine
39	chr14:69337600-69351200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:69337600-69353000	Strong transcription	Aorta	Aorta
41	chr14:69337600-69361200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:69337800-69344000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:69337800-69344600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr14:69337800-69345400	Strong transcription	NHDF-Ad	bronchial
45	chr14:69337800-69346200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:69337800-69350600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:69337800-69350600	Strong transcription	A549	lung
48	chr14:69337800-69350800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:69337800-69350800	Strong transcription	HMEC	breast
50	chr14:69337800-69352600	Strong transcription	Fetal Lung	lung

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