Variant report

Variant	rs1275202
Chromosome Location	chr14:69479952-69479953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69444426..69446976-chr14:69479738..69482578,2	MCF-7	breast:
2	chr14:69479524..69481423-chr14:69483176..69484948,2	K562	blood:
3	chr14:69444869..69447830-chr14:69479738..69482436,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10132132	0.82[ASN][1000 genomes]
rs10220411	1.00[CHB][hapmap]
rs12432480	1.00[CHB][hapmap]
rs1275200	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1275201	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1400194	1.00[CHB][hapmap]
rs242093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8023190	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69472400-69480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:69472800-69480800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:69472800-69481000	Weak transcription	Esophagus	oesophagus
4	chr14:69473000-69480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:69473000-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:69473000-69480600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
9	chr14:69473200-69480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:69473200-69480400	Weak transcription	HUVEC	blood vessel
11	chr14:69473200-69480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:69473400-69481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:69474000-69480400	Weak transcription	HepG2	liver
14	chr14:69475600-69480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:69475600-69480600	Weak transcription	Stomach Mucosa	stomach
16	chr14:69475800-69480400	Weak transcription	Fetal Lung	lung
17	chr14:69475800-69480600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:69475800-69480600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:69475800-69481000	Weak transcription	NH-A	brain
20	chr14:69476000-69480400	Weak transcription	Placenta	Placenta
21	chr14:69477400-69480200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:69477600-69480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:69477600-69480600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:69477800-69480400	Weak transcription	A549	lung
25	chr14:69477800-69480800	Weak transcription	Hela-S3	cervix
26	chr14:69478400-69482000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:69479000-69480000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:69479000-69482000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:69479200-69480200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:69479200-69481200	Enhancers	Fetal Muscle Leg	muscle
31	chr14:69479200-69481800	Enhancers	Primary B cells from cord blood	blood
32	chr14:69479400-69481400	Enhancers	Fetal Muscle Trunk	muscle
33	chr14:69479400-69482000	Enhancers	Fetal Intestine Small	intestine
34	chr14:69479600-69480000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr14:69479600-69481400	Enhancers	Fetal Stomach	stomach
36	chr14:69479600-69482000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:69479600-69482000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:69479600-69482000	Enhancers	Lung	lung
39	chr14:69479800-69480800	Weak transcription	NHLF	lung
40	chr14:69479800-69480800	Weak transcription	Osteobl	bone

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