Variant report

Variant	rs12890397
Chromosome Location	chr14:68130566-68130567
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	FOS	chr14:68130394-68130714	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr14:68130430-68130700	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr14:68130514-68130663	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:68130394-68130713	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr14:68130399-68130713	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr14:68130499-68130699	MCF10A-Er-Src	breast:	n/a	n/a
7	ZC3H11A	chr14:68130526-68130566	K562	blood:	n/a	n/a
8	FOS	chr14:68130507-68130584	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr14:68130500-68130667	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr14:68130460-68130693	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68044161..68046768-chr14:68130542..68132483,2	MCF-7	breast:
2	chr14:68130358..68132613-chr14:68140051..68141823,2	MCF-7	breast:
3	chr14:68128179..68130667-chr14:68160761..68163198,2	MCF-7	breast:
4	chr14:68051840..68054093-chr14:68130309..68132445,2	MCF-7	breast:
5	chr14:68087309..68089150-chr14:68130477..68132954,2	K562	blood:

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1007283	0.82[ASN][1000 genomes]
rs12147055	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12879877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12880440	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12881114	0.85[CEU][hapmap]
rs12881351	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12881994	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12882315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12882423	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12882561	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12882897	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12884644	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12884764	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12884807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12886140	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12887092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12888119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889011	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12889276	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12892204	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12892919	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12893115	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12893900	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12893907	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12894707	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12895014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12895217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12896052	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898042	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17249649	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34970739	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59922989	0.85[AFR][1000 genomes]
rs60782801	0.85[AFR][1000 genomes]
rs7147925	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7410	0.85[CEU][hapmap]
rs8007557	0.89[EUR][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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
2	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:68115600-68130600	Strong transcription	Fetal Intestine Small	intestine
4	chr14:68115600-68135200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:68117000-68139400	Weak transcription	Psoas Muscle	Psoas
6	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68120800-68135400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:68121400-68132600	Weak transcription	Fetal Heart	heart
9	chr14:68123800-68132800	Weak transcription	NHLF	lung
10	chr14:68123800-68139400	Weak transcription	Fetal Brain Male	brain
11	chr14:68124000-68132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:68124000-68132600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:68124000-68132600	Weak transcription	Brain Angular Gyrus	brain
14	chr14:68124000-68133200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:68124000-68133800	Weak transcription	Fetal Kidney	kidney
16	chr14:68124000-68136400	Weak transcription	Pancreas	Pancrea
17	chr14:68124000-68139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:68124000-68140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:68124000-68140200	Weak transcription	Right Ventricle	heart
20	chr14:68124200-68132400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:68124200-68133400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:68124200-68133400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:68124200-68139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:68124400-68132600	Weak transcription	HSMM	muscle
25	chr14:68124400-68132800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:68124400-68133400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:68124400-68133600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:68124400-68133800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:68124400-68135400	Weak transcription	Brain Germinal Matrix	brain
30	chr14:68124400-68136600	Weak transcription	Gastric	stomach
31	chr14:68124400-68138000	Weak transcription	Ovary	ovary
32	chr14:68124400-68139400	Weak transcription	Aorta	Aorta
33	chr14:68124400-68139400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:68124400-68139400	Weak transcription	Spleen	Spleen
35	chr14:68124400-68139600	Weak transcription	Colonic Mucosa	Colon
36	chr14:68124400-68140400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:68124400-68140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:68124600-68132800	Weak transcription	K562	blood
39	chr14:68124800-68138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:68124800-68139200	Weak transcription	Lung	lung
41	chr14:68125000-68133400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:68125000-68139600	Weak transcription	HUVEC	blood vessel
43	chr14:68125800-68132800	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:68125800-68138400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:68125800-68140200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:68126000-68132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:68126000-68139400	Weak transcription	Fetal Brain Female	brain
48	chr14:68126600-68133200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:68126600-68139400	Weak transcription	Fetal Lung	lung
50	chr14:68126600-68139400	Weak transcription	Hela-S3	cervix

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