Variant report

Variant	rs10132193
Chromosome Location	chr14:105889801-105889802
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:105888557-105889984	SK-N-SH	brain:	n/a	chr14:105889496-105889510
2	MXI1	chr14:105886614-105890279	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr14:105889677-105889931	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105779766..105781662-chr14:105888311..105890872,2	MCF-7	breast:
2	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:
3	chr14:105888342..105894950-chr14:105900669..105908153,8	MCF-7	breast:
4	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
5	chr14:105887107..105890164-chr14:105897774..105900596,4	MCF-7	breast:
6	chr14:105888512..105890241-chr14:105919269..105920969,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251602	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10133343	1.00[AMR][1000 genomes]
rs10133666	1.00[AMR][1000 genomes]
rs10136894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137499	1.00[AMR][1000 genomes]
rs10142763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150076	1.00[AMR][1000 genomes]
rs10151345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152000	1.00[AMR][1000 genomes]
rs11847920	1.00[AMR][1000 genomes]
rs11850681	1.00[AMR][1000 genomes]
rs11850746	1.00[AMR][1000 genomes]
rs28406946	1.00[AMR][1000 genomes]
rs28419155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451686	1.00[AMR][1000 genomes]
rs28482150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507499	1.00[AMR][1000 genomes]
rs28537945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28539444	1.00[AMR][1000 genomes]
rs28545230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28547922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28588179	1.00[AMR][1000 genomes]
rs28665678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28678078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28678492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28710336	1.00[AMR][1000 genomes]
rs28733380	1.00[AMR][1000 genomes]
rs28741003	0.85[AFR][1000 genomes]
rs4073351	1.00[AMR][1000 genomes]
rs4073352	1.00[AMR][1000 genomes]
rs56734561	1.00[AMR][1000 genomes]
rs61326617	1.00[AMR][1000 genomes]
rs7158718	1.00[AMR][1000 genomes]
rs73361045	1.00[AMR][1000 genomes]
rs8009536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009750	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9743768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9989145	0.82[AFR][1000 genomes];1.00[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 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	chr14:105887200-105897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:105887400-105892400	Weak transcription	Aorta	Aorta
3	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:105887800-105890200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:105887800-105896600	Weak transcription	HSMMtube	muscle
6	chr14:105888000-105896800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:105888200-105891000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:105888200-105891200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:105888200-105891400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:105888200-105892600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:105888200-105892800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:105888200-105896400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:105888200-105896400	Weak transcription	NHDF-Ad	bronchial
14	chr14:105888200-105900400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:105888400-105890200	Weak transcription	NHEK	skin
16	chr14:105888400-105890400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:105888400-105891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:105888400-105891200	Weak transcription	NHLF	lung
19	chr14:105888400-105891800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:105888400-105892600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:105888400-105893000	Weak transcription	HSMM	muscle
22	chr14:105888400-105893200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:105888400-105893200	Weak transcription	Osteobl	bone
24	chr14:105888400-105896800	Weak transcription	NH-A	brain
25	chr14:105888400-105897200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:105888400-105899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:105888400-105904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:105888600-105890400	Enhancers	Right Ventricle	heart
29	chr14:105888600-105891000	Weak transcription	Lung	lung
30	chr14:105888600-105892000	Weak transcription	Small Intestine	intestine
31	chr14:105888600-105914800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:105888600-105918400	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:105888800-105891200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:105888800-105891600	Weak transcription	Colonic Mucosa	Colon
35	chr14:105888800-105893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:105888800-105896800	Weak transcription	Primary B cells from cord blood	blood
37	chr14:105888800-105908600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:105889000-105891200	Weak transcription	Fetal Brain Female	brain
39	chr14:105889000-105891200	Weak transcription	Fetal Intestine Large	intestine
40	chr14:105889000-105891400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:105889000-105892800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:105889200-105890000	Enhancers	GM12878-XiMat	blood
43	chr14:105889200-105890400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:105889200-105891000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:105889200-105891200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:105889200-105891200	Weak transcription	Primary T cells from cord blood	blood
47	chr14:105889200-105891200	Weak transcription	A549	lung
48	chr14:105889200-105891800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:105889200-105892200	Weak transcription	Pancreas	Pancrea
50	chr14:105889200-105892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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