Variant report

Variant	rs2195101
Chromosome Location	chr14:81399692-81399693
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81397911..81402411-chr14:81683829..81688491,5	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10129919	0.90[JPT][hapmap]
rs10132220	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs10132871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013890	0.88[ASW][hapmap];0.93[LWK][hapmap];0.80[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs10140915	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs1025252	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs10498551	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs10498552	0.90[JPT][hapmap]
rs11159475	0.90[GIH][hapmap];0.90[JPT][hapmap]
rs12147744	0.95[JPT][hapmap]
rs12586161	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs12586908	0.95[JPT][hapmap]
rs12587246	0.84[ASN][1000 genomes]
rs12587367	0.89[JPT][hapmap]
rs12587844	0.95[JPT][hapmap]
rs12587883	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588075	0.84[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap]
rs12589266	0.90[JPT][hapmap]
rs12589935	0.90[GIH][hapmap];0.90[JPT][hapmap]
rs12590236	0.85[EUR][1000 genomes]
rs12590277	0.85[EUR][1000 genomes]
rs12590477	0.89[JPT][hapmap]
rs12590579	0.90[JPT][hapmap]
rs12590682	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12878167	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880008	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12882027	0.91[JPT][hapmap]
rs12884630	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12885049	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12885819	0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12890859	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs12892149	0.90[JPT][hapmap]
rs12892368	0.90[JPT][hapmap]
rs12892567	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1458992	0.90[GIH][hapmap];0.90[JPT][hapmap]
rs17111078	0.90[JPT][hapmap]
rs17111143	0.90[GIH][hapmap];0.90[JPT][hapmap]
rs17111149	0.82[JPT][hapmap]
rs17111151	0.90[JPT][hapmap]
rs17111165	0.91[JPT][hapmap]
rs17111167	0.90[JPT][hapmap]
rs2217175	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs2284715	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2284716	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2300517	0.81[GIH][hapmap]
rs2371414	0.90[JPT][hapmap]
rs2371417	0.90[GIH][hapmap];0.91[JPT][hapmap]
rs2371461	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2840052	0.86[JPT][hapmap]
rs28455637	0.83[AFR][1000 genomes]
rs28787628	0.97[AFR][1000 genomes]
rs327433	0.81[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs34144142	0.84[ASN][1000 genomes]
rs34296139	0.81[ASN][1000 genomes]
rs34465155	0.81[ASN][1000 genomes]
rs34611247	0.87[ASN][1000 genomes]
rs35298517	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35728625	0.88[ASN][1000 genomes]
rs35765671	0.88[ASN][1000 genomes]
rs35847336	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742720	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3861639	0.91[JPT][hapmap]
rs55634365	0.87[ASN][1000 genomes]
rs56757452	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58078360	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60407794	0.89[ASN][1000 genomes]
rs67231034	0.84[ASN][1000 genomes]
rs7149702	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2195101	C14orf145	cis	parietal	SCAN
rs2195101	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359400-81406000	Weak transcription	A549	lung
2	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:81375400-81407600	Weak transcription	Gastric	stomach
4	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
13	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
14	chr14:81393000-81407600	Weak transcription	Lung	lung
15	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
17	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
18	chr14:81396000-81399800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:81396000-81401000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
21	chr14:81397400-81407200	Weak transcription	Ovary	ovary
22	chr14:81397600-81400000	Enhancers	Primary hematopoietic stem cells	blood
23	chr14:81397800-81400600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr14:81398000-81400600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:81398200-81399800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:81398200-81406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:81398200-81407000	Weak transcription	Primary T cells from cord blood	blood
31	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:81398400-81400000	Enhancers	K562	blood
34	chr14:81398400-81406000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:81398400-81406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:81398600-81400800	Strong transcription	Fetal Thymus	thymus
37	chr14:81398600-81406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:81398800-81406200	Genic enhancers	Dnd41	blood
39	chr14:81398800-81406600	Weak transcription	HMEC	breast
40	chr14:81398800-81407200	Weak transcription	Primary B cells from cord blood	blood
41	chr14:81399000-81399800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:81399000-81400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:81399000-81402400	Weak transcription	NHEK	skin
44	chr14:81399000-81406400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:81399000-81406400	Weak transcription	GM12878-XiMat	blood
46	chr14:81399200-81400200	Enhancers	HSMMtube	muscle
47	chr14:81399200-81400600	Strong transcription	Thymus	Thymus
48	chr14:81399400-81399800	Enhancers	Spleen	Spleen
49	chr14:81399400-81400800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:81399400-81400800	Enhancers	Brain Germinal Matrix	brain

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