Variant report

Variant	rs12435927
Chromosome Location	chr14:68127970-68127971
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	PBX3	chr14:68127948-68128044	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68106693..68108221-chr14:68127792..68129526,2	MCF-7	breast:
2	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272253	TF binding region
VTI1B	TF binding region
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10136206	0.80[JPT][hapmap]
rs10483802	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100925	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431676	0.94[YRI][hapmap];0.83[AMR][1000 genomes]
rs12432546	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434923	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12435352	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12435531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12436474	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12437263	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12587408	0.84[ASN][1000 genomes]
rs12590038	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12590620	0.80[ASN][1000 genomes]
rs15493	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17249444	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs17249563	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836863	0.88[ASN][1000 genomes]
rs1804799	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009590	0.92[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3759768	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56981676	0.80[ASN][1000 genomes]
rs59421018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60851053	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718213	1.00[CEU][hapmap]
rs742868	0.81[YRI][hapmap]
rs8010798	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013234	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs910315	0.92[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
3	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:68112000-68129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:68112000-68129800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:68112200-68128000	Strong transcription	Dnd41	blood
7	chr14:68112200-68128200	Strong transcription	Primary T cells from cord blood	blood
8	chr14:68112200-68128200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:68112200-68129200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:68112400-68128000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:68112400-68128400	Strong transcription	Liver	Liver
12	chr14:68112400-68129400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:68112400-68129800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:68112400-68130000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:68112400-68130000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:68112800-68128200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:68112800-68128200	Strong transcription	Left Ventricle	heart
18	chr14:68113600-68128000	Strong transcription	Fetal Intestine Large	intestine
19	chr14:68114200-68128000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr14:68114600-68128600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:68114800-68129800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:68115200-68128400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:68115600-68129000	Strong transcription	Fetal Stomach	stomach
24	chr14:68115600-68130600	Strong transcription	Fetal Intestine Small	intestine
25	chr14:68115600-68135200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:68117000-68139400	Weak transcription	Psoas Muscle	Psoas
27	chr14:68118400-68129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:68119200-68128600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:68120800-68135400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:68121000-68128600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:68121000-68128600	Strong transcription	Adipose Nuclei	Adipose
33	chr14:68121200-68128200	Strong transcription	Fetal Muscle Leg	muscle
34	chr14:68121400-68129200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:68121400-68132600	Weak transcription	Fetal Heart	heart
36	chr14:68122000-68128600	Strong transcription	GM12878-XiMat	blood
37	chr14:68123800-68132800	Weak transcription	NHLF	lung
38	chr14:68123800-68139400	Weak transcription	Fetal Brain Male	brain
39	chr14:68124000-68132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:68124000-68132600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:68124000-68132600	Weak transcription	Brain Angular Gyrus	brain
42	chr14:68124000-68133200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:68124000-68133800	Weak transcription	Fetal Kidney	kidney
44	chr14:68124000-68136400	Weak transcription	Pancreas	Pancrea
45	chr14:68124000-68139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:68124000-68140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:68124000-68140200	Weak transcription	Right Ventricle	heart
48	chr14:68124200-68129600	Weak transcription	HMEC	breast
49	chr14:68124200-68132400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:68124200-68133400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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