Variant report

Variant	rs28671429
Chromosome Location	chr14:70076139-70076140
allele	A/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	CTCF	chr14:70076040-70076190	WERI-Rb-1	eye:	n/a	chr14:70076111-70076119

No.	Distal block	Cell Line	Cell type
1	chr14:70075659..70077569-chr14:70081813..70084609,2	K562	blood:
2	chr14:70075993..70078165-chr14:70168395..70170224,2	K562	blood:
3	chr14:70075878..70078294-chr14:70112470..70114213,2	K562	blood:
4	chr14:70075993..70078093-chr14:70168395..70170520,2	K562	blood:
5	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0247	TF binding region
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10047848	1.00[EUR][1000 genomes]
rs10130124	1.00[EUR][1000 genomes]
rs10131362	1.00[EUR][1000 genomes]
rs10137013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137162	1.00[EUR][1000 genomes]
rs10138453	1.00[EUR][1000 genomes]
rs10144038	1.00[EUR][1000 genomes]
rs10146486	1.00[EUR][1000 genomes]
rs10148264	1.00[EUR][1000 genomes]
rs10148957	1.00[EUR][1000 genomes]
rs10149936	1.00[EUR][1000 genomes]
rs10150246	1.00[EUR][1000 genomes]
rs10151989	1.00[EUR][1000 genomes]
rs10220277	1.00[EUR][1000 genomes]
rs11847514	1.00[EUR][1000 genomes]
rs1275744	1.00[EUR][1000 genomes]
rs28435330	1.00[EUR][1000 genomes]
rs28445972	1.00[EUR][1000 genomes]
rs28524787	1.00[EUR][1000 genomes]
rs28633309	1.00[EUR][1000 genomes]
rs28757382	1.00[EUR][1000 genomes]
rs28758769	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28879830	1.00[EUR][1000 genomes]
rs9805962	1.00[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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70060400-70076600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:70060800-70076800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:70067200-70077000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:70067400-70077000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:70067600-70076600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70069000-70076800	Weak transcription	Right Atrium	heart
7	chr14:70070400-70076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70070600-70076800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:70070800-70076800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:70071400-70076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:70071600-70077000	Weak transcription	Brain Anterior Caudate	brain
12	chr14:70072600-70077000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:70073000-70076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:70073000-70076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:70073000-70076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:70073200-70076800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:70073200-70077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:70073400-70076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:70073400-70076800	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:70073400-70076800	Weak transcription	Placenta	Placenta
21	chr14:70073400-70076800	Weak transcription	GM12878-XiMat	blood
22	chr14:70073400-70077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:70073400-70077000	Weak transcription	Esophagus	oesophagus
24	chr14:70073400-70077400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:70073400-70077400	Weak transcription	Small Intestine	intestine
26	chr14:70073400-70077400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:70073600-70076200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:70073600-70076800	Weak transcription	NHLF	lung
29	chr14:70073600-70077200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:70073600-70077200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:70074000-70077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:70074000-70077000	Weak transcription	Fetal Lung	lung
33	chr14:70074200-70076600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:70074200-70076600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:70074200-70076800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:70074200-70077000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:70074200-70077000	Weak transcription	Lung	lung
38	chr14:70074200-70077000	Weak transcription	Hela-S3	cervix
39	chr14:70074200-70077200	Weak transcription	A549	lung
40	chr14:70074200-70077400	Weak transcription	Gastric	stomach
41	chr14:70074400-70076600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:70074400-70076600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:70074400-70076800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:70074400-70076800	Weak transcription	Adipose Nuclei	Adipose
45	chr14:70074400-70076800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:70074400-70076800	Weak transcription	Fetal Intestine Large	intestine
47	chr14:70074400-70076800	Weak transcription	Fetal Intestine Small	intestine
48	chr14:70074400-70076800	Weak transcription	Left Ventricle	heart
49	chr14:70074400-70077000	Weak transcription	Colonic Mucosa	Colon
50	chr14:70074400-70077000	Weak transcription	Rectal Mucosa Donor 29	rectum

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