Variant report

Variant	rs10483975
Chromosome Location	chr14:81741802-81741803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81740817..81743318-chr14:81743948..81746611,2	MCF-7	breast:
2	chr14:81684973..81687245-chr14:81740036..81742167,2	K562	blood:
3	chr14:81685475..81687866-chr14:81737808..81743096,5	MCF-7	breast:
4	chr14:81740539..81742238-chr14:81855597..81857728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10133562	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149681	0.82[CHB][hapmap]
rs11621116	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17111601	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1957546	0.86[CHB][hapmap]
rs2241621	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2241622	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574634	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149103	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149294	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160599	0.94[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7161073	0.95[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8007595	0.92[ASN][1000 genomes]
rs8007841	0.81[CHB][hapmap]
rs8009696	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8009888	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9806020	0.86[CHB][hapmap]
rs9806027	0.81[CHB][hapmap]

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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81721200-81742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:81725000-81743600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:81727800-81746200	Weak transcription	NHDF-Ad	bronchial
5	chr14:81729400-81752600	Weak transcription	Stomach Mucosa	stomach
6	chr14:81730600-81743000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:81730600-81744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:81730800-81743600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:81732400-81743600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:81733200-81753000	Weak transcription	Hela-S3	cervix
11	chr14:81734600-81742400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:81734800-81743000	Weak transcription	Placenta	Placenta
13	chr14:81734800-81743400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:81734800-81744000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:81735600-81760200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:81735800-81743000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:81735800-81746400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:81736000-81743400	Weak transcription	Fetal Intestine Large	intestine
19	chr14:81736000-81746000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:81736200-81742000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:81736400-81746600	Weak transcription	Liver	Liver
22	chr14:81736600-81742400	Weak transcription	Fetal Stomach	stomach
23	chr14:81737000-81744200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:81737200-81742800	Weak transcription	Fetal Kidney	kidney
25	chr14:81737600-81748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:81738600-81743400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:81739200-81743800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:81739600-81742200	Enhancers	Brain Anterior Caudate	brain
29	chr14:81739600-81743800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:81739800-81742400	Strong transcription	Fetal Intestine Small	intestine
31	chr14:81740000-81742600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr14:81740200-81742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:81740200-81742800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:81740200-81743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:81740200-81744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:81740400-81742000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:81740400-81742200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:81740400-81743000	Weak transcription	Spleen	Spleen
39	chr14:81740400-81743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:81740400-81743400	Weak transcription	Esophagus	oesophagus
41	chr14:81740600-81743200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:81740600-81743600	Strong transcription	NHEK	skin
43	chr14:81740800-81742200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:81740800-81742400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:81740800-81745200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:81741000-81743200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:81741200-81742000	Enhancers	Brain Substantia Nigra	brain
48	chr14:81741200-81742000	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:81741400-81742000	Enhancers	Brain Hippocampus Middle	brain
50	chr14:81741400-81742800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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