Variant report

Variant	rs61988693
Chromosome Location	chr14:71373151-71373152
allele	A/G
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	chr14:71373024-71373275	GM12878	blood:	n/a	n/a
5	STAT3	chr14:71373127-71373184	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr14:71373040-71373190	AG10803	skin:	n/a	n/a

Variant related genes	Relation type
PCNX	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10140218	1.00[ASN][1000 genomes]
rs17766986	1.00[ASN][1000 genomes]
rs45498105	1.00[ASN][1000 genomes]
rs45517434	1.00[ASN][1000 genomes]
rs55903050	1.00[ASN][1000 genomes]
rs61988691	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61988692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988695	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988719	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988721	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988723	0.92[EUR][1000 genomes]
rs61988726	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988727	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988728	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988729	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988735	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988736	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988737	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988738	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988740	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990375	1.00[ASN][1000 genomes]
rs61990382	1.00[ASN][1000 genomes]
rs61990383	1.00[ASN][1000 genomes]
rs61990384	1.00[ASN][1000 genomes]
rs61990385	1.00[ASN][1000 genomes]
rs61990404	1.00[ASN][1000 genomes]
rs61990406	1.00[ASN][1000 genomes]
rs61990407	1.00[ASN][1000 genomes]
rs61990408	1.00[ASN][1000 genomes]
rs61990409	1.00[ASN][1000 genomes]
rs61990410	1.00[ASN][1000 genomes]
rs61990411	1.00[ASN][1000 genomes]
rs61990412	1.00[ASN][1000 genomes]
rs61990414	1.00[ASN][1000 genomes]
rs61990416	1.00[ASN][1000 genomes]
rs61990417	1.00[ASN][1000 genomes]
rs61990418	1.00[ASN][1000 genomes]
rs61990420	1.00[ASN][1000 genomes]
rs61990451	1.00[ASN][1000 genomes]
rs61990452	1.00[ASN][1000 genomes]
rs61990453	1.00[ASN][1000 genomes]
rs61990458	1.00[ASN][1000 genomes]
rs73289980	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

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	chr14:71368600-71373200	Weak transcription	GM12878-XiMat	blood
6	chr14:71368600-71373200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:71368600-71373400	Weak transcription	NH-A	brain
8	chr14:71368600-71373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:71368800-71373600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:71369200-71373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:71370600-71373400	Enhancers	Fetal Muscle Leg	muscle
12	chr14:71370600-71373400	Enhancers	Fetal Stomach	stomach
13	chr14:71370800-71373200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr14:71370800-71373400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:71370800-71373600	Enhancers	Fetal Lung	lung
16	chr14:71371000-71373400	Enhancers	Ovary	ovary
17	chr14:71371000-71373600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:71371200-71373200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:71371200-71373400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:71371200-71373600	Weak transcription	Colonic Mucosa	Colon
21	chr14:71371200-71373600	Enhancers	HSMM	muscle
22	chr14:71371200-71374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:71371400-71373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:71371400-71373400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:71371600-71373200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:71371600-71373200	Enhancers	Right Atrium	heart
27	chr14:71371600-71373400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:71371600-71373400	Enhancers	Adipose Nuclei	Adipose
29	chr14:71371600-71373400	Enhancers	Colon Smooth Muscle	Colon
30	chr14:71371600-71373400	Enhancers	HepG2	liver
31	chr14:71371600-71373800	Flanking Active TSS	HSMMtube	muscle
32	chr14:71371800-71373400	Enhancers	Aorta	Aorta
33	chr14:71371800-71373400	Enhancers	HMEC	breast
34	chr14:71371800-71373600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:71372000-71373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:71372000-71373400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:71372000-71373600	Enhancers	Fetal Heart	heart
38	chr14:71372200-71373200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:71372200-71373400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:71372200-71373400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr14:71372200-71373600	Weak transcription	Placenta	Placenta
42	chr14:71372400-71373400	Weak transcription	Fetal Brain Female	brain
43	chr14:71372400-71373600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:71372400-71373600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:71372400-71373600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:71372400-71373600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:71372400-71373600	Weak transcription	Gastric	stomach
48	chr14:71372400-71373600	Weak transcription	Left Ventricle	heart
49	chr14:71372600-71373200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:71372600-71373200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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