Variant report

Variant	rs10133398
Chromosome Location	chr14:71373295-71373296
allele	G/T
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	MXI1	chr14:71373065-71376033	IMR90	lung:	n/a	n/a
2	POLR2A	chr14:71371711-71373446	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:71372584-71375989	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr14:71373264-71374563	A549	lung:	n/a	chr14:71374100-71374110 chr14:71374130-71374143 chr14:71374504-71374517

Variant related genes	Relation type
PCNX	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10132278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132657	0.91[AFR][1000 genomes]
rs10135131	0.91[AFR][1000 genomes]
rs10135836	0.91[AFR][1000 genomes]
rs10136593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137584	0.91[AFR][1000 genomes]
rs10138314	1.00[AFR][1000 genomes]
rs10139870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144763	0.87[AFR][1000 genomes]
rs10145450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147840	0.91[AFR][1000 genomes]
rs10147846	0.91[AFR][1000 genomes]
rs10148594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149857	1.00[AMR][1000 genomes]
rs10150003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150628	0.87[AFR][1000 genomes]
rs10438024	0.83[AFR][1000 genomes]
rs12385922	0.87[AFR][1000 genomes]
rs28401611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28453676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28552942	0.83[AFR][1000 genomes]
rs28556569	0.91[AFR][1000 genomes]
rs28659887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28771184	0.91[AFR][1000 genomes]
rs28793135	0.91[AFR][1000 genomes]
rs28807752	0.91[AFR][1000 genomes]
rs28824190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28842770	0.91[AFR][1000 genomes]
rs45536336	1.00[AMR][1000 genomes]
rs59943463	1.00[AMR][1000 genomes]
rs61425260	1.00[AMR][1000 genomes]
rs74065439	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3323142	chr14:71373224-71375772	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71361800-71373400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:71364000-71373800	Weak transcription	Small Intestine	intestine
3	chr14:71364200-71373600	Weak transcription	Lung	lung
4	chr14:71365400-71373400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:71368600-71373400	Weak transcription	NH-A	brain
6	chr14:71368600-71373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:71368800-71373600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:71370600-71373400	Enhancers	Fetal Muscle Leg	muscle
9	chr14:71370600-71373400	Enhancers	Fetal Stomach	stomach
10	chr14:71370800-71373400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:71370800-71373600	Enhancers	Fetal Lung	lung
12	chr14:71371000-71373400	Enhancers	Ovary	ovary
13	chr14:71371000-71373600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:71371200-71373400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:71371200-71373600	Weak transcription	Colonic Mucosa	Colon
16	chr14:71371200-71373600	Enhancers	HSMM	muscle
17	chr14:71371200-71374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:71371400-71373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:71371400-71373400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:71371600-71373400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:71371600-71373400	Enhancers	Adipose Nuclei	Adipose
22	chr14:71371600-71373400	Enhancers	Colon Smooth Muscle	Colon
23	chr14:71371600-71373400	Enhancers	HepG2	liver
24	chr14:71371600-71373800	Flanking Active TSS	HSMMtube	muscle
25	chr14:71371800-71373400	Enhancers	Aorta	Aorta
26	chr14:71371800-71373400	Enhancers	HMEC	breast
27	chr14:71371800-71373600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:71372000-71373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:71372000-71373400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:71372000-71373600	Enhancers	Fetal Heart	heart
31	chr14:71372200-71373400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:71372200-71373400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr14:71372200-71373600	Weak transcription	Placenta	Placenta
34	chr14:71372400-71373400	Weak transcription	Fetal Brain Female	brain
35	chr14:71372400-71373600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:71372400-71373600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:71372400-71373600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:71372400-71373600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:71372400-71373600	Weak transcription	Gastric	stomach
40	chr14:71372400-71373600	Weak transcription	Left Ventricle	heart
41	chr14:71372600-71373400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:71372600-71373400	Enhancers	Fetal Intestine Small	intestine
43	chr14:71372600-71373400	Enhancers	HUVEC	blood vessel
44	chr14:71372600-71373400	Enhancers	NHLF	lung
45	chr14:71372600-71373600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:71372800-71373400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:71372800-71373400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:71372800-71373400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:71372800-71373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:71372800-71373400	Enhancers	Brain Anterior Caudate	brain

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