Variant report

Variant	rs10483813
Chromosome Location	chr14:69031284-69031285
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69030740..69033327-chr14:69250048..69252689,2	K562	blood:
2	chr14:69030473..69032904-chr14:69122357..69124258,2	MCF-7	breast:
3	chr14:69030262..69032857-chr14:69281297..69284839,4	MCF-7	breast:
4	chr14:69028863..69039900-chr14:69256962..69265663,39	MCF-7	breast:
5	chr14:68934455..68938409-chr14:69031168..69034448,4	MCF-7	breast:
6	chr14:69013020..69016426-chr14:69030419..69035616,4	MCF-7	breast:
7	chr14:69027264..69032673-chr14:69034374..69038789,10	MCF-7	breast:
8	chr14:69029510..69035367-chr14:69250877..69256211,7	MCF-7	breast:
9	chr14:69027748..69038857-chr14:69257974..69264472,24	MCF-7	breast:
10	chr14:68930531..68933469-chr14:69030065..69032350,2	MCF-7	breast:
11	chr14:68953516..68956105-chr14:69031281..69032834,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10483812	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11621276	0.85[CEU][hapmap];0.87[AMR][1000 genomes]
rs11624097	0.81[CEU][hapmap]
rs11624164	0.80[CEU][hapmap]
rs11624333	0.80[CEU][hapmap]
rs11628293	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12889251	0.86[CEU][hapmap];0.87[AMR][1000 genomes]
rs17755925	0.86[CEU][hapmap];0.88[AMR][1000 genomes]
rs17756000	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17756147	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17828907	0.85[CEU][hapmap];0.91[AMR][1000 genomes]
rs17828955	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2158357	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34636650	0.91[AMR][1000 genomes]
rs71423314	0.85[AMR][1000 genomes]
rs71423316	0.90[AMR][1000 genomes]
rs71423317	0.88[AMR][1000 genomes]
rs71423318	0.91[AMR][1000 genomes]
rs999737	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69022200-69031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:69022600-69032600	Weak transcription	NHDF-Ad	bronchial
4	chr14:69026400-69033600	Enhancers	Ovary	ovary
5	chr14:69027200-69033400	Enhancers	Liver	Liver
6	chr14:69027600-69032000	Enhancers	Colon Smooth Muscle	Colon
7	chr14:69027600-69032600	Enhancers	Fetal Stomach	stomach
8	chr14:69027600-69032800	Enhancers	Fetal Muscle Trunk	muscle
9	chr14:69027600-69033000	Enhancers	Primary T cells from cord blood	blood
10	chr14:69027600-69033400	Enhancers	Placenta	Placenta
11	chr14:69027600-69033600	Enhancers	Fetal Muscle Leg	muscle
12	chr14:69027800-69033400	Enhancers	Lung	lung
13	chr14:69027800-69033400	Enhancers	Pancreas	Pancrea
14	chr14:69027800-69033600	Enhancers	Fetal Thymus	thymus
15	chr14:69028000-69032600	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:69028000-69032800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr14:69028000-69033600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:69028200-69032400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:69028200-69032400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr14:69028200-69032600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:69028200-69033400	Enhancers	Fetal Lung	lung
22	chr14:69028200-69033400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:69028200-69033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:69028200-69033600	Enhancers	Adipose Nuclei	Adipose
25	chr14:69028400-69031400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:69028400-69032600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:69028400-69033400	Enhancers	Fetal Kidney	kidney
28	chr14:69028400-69033600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:69028600-69031600	Enhancers	Brain Substantia Nigra	brain
30	chr14:69028600-69031800	Enhancers	Left Ventricle	heart
31	chr14:69028600-69032800	Enhancers	Thymus	Thymus
32	chr14:69028600-69033000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:69028600-69033400	Enhancers	Stomach Mucosa	stomach
34	chr14:69028800-69032400	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:69028800-69032400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:69029000-69032200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:69029000-69033400	Enhancers	Esophagus	oesophagus
38	chr14:69029000-69033400	Enhancers	Spleen	Spleen
39	chr14:69029200-69031600	Weak transcription	Fetal Intestine Large	intestine
40	chr14:69029200-69033200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:69029200-69035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:69029400-69031400	Enhancers	Aorta	Aorta
43	chr14:69029400-69032400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:69029400-69032800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr14:69029400-69033400	Enhancers	Right Atrium	heart
46	chr14:69029400-69035400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:69029600-69031400	Flanking Active TSS	NHEK	skin
48	chr14:69029600-69031600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:69029600-69031600	Enhancers	Psoas Muscle	Psoas
50	chr14:69029600-69032800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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