Variant report

Variant	rs12895185
Chromosome Location	chr14:70123650-70123651
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	BACH1	chr14:70123621-70123821	K562	blood:	n/a	n/a
2	RCOR1	chr14:70123450-70124040	K562	blood:	n/a	n/a
3	POLR2A	chr14:70123094-70123856	K562	blood:	n/a	n/a
4	RCOR1	chr14:70123441-70123872	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70121974..70124991-chr14:70161364..70163471,3	K562	blood:
2	chr14:70110578..70113027-chr14:70121882..70124631,2	K562	blood:

Variant related genes	Relation type
KIAA0247	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1109652	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12435686	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589913	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12590789	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1275824	0.81[CHB][hapmap]
rs1275828	0.83[CHB][hapmap]
rs2152373	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2224541	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4899308	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4902747	0.87[ASN][1000 genomes]
rs6573897	0.89[ASN][1000 genomes]
rs6573902	0.84[ASN][1000 genomes]
rs7146578	0.89[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs8008410	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs875424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943275	0.81[ASN][1000 genomes]
rs945311	0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
4	chr14:70114000-70125000	Enhancers	Fetal Intestine Large	intestine
5	chr14:70114000-70126400	Enhancers	Left Ventricle	heart
6	chr14:70116000-70125800	Enhancers	Pancreas	Pancrea
7	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
8	chr14:70117800-70124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70117800-70127800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:70118000-70124400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:70118000-70124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:70118000-70124600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:70118000-70126600	Weak transcription	Brain Angular Gyrus	brain
14	chr14:70118200-70124400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:70118200-70124400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70118200-70124400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:70118200-70124600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:70118200-70124600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:70118400-70124600	Weak transcription	Aorta	Aorta
20	chr14:70118400-70124600	Weak transcription	HSMM	muscle
21	chr14:70118600-70124200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:70118800-70123800	Enhancers	Lung	lung
23	chr14:70118800-70124400	Weak transcription	HSMMtube	muscle
24	chr14:70118800-70124800	Weak transcription	Fetal Lung	lung
25	chr14:70118800-70124800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:70119000-70124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:70119000-70124400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:70119000-70129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:70119600-70125200	Weak transcription	Primary T cells from cord blood	blood
30	chr14:70120000-70124400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:70120000-70124600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:70120000-70124800	Enhancers	Fetal Intestine Small	intestine
33	chr14:70120200-70124400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:70120200-70124400	Weak transcription	Fetal Stomach	stomach
35	chr14:70120200-70124400	Weak transcription	NH-A	brain
36	chr14:70120200-70124600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:70120200-70124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:70120200-70124600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:70120200-70125000	Weak transcription	HUVEC	blood vessel
40	chr14:70120200-70126000	Weak transcription	NHLF	lung
41	chr14:70120400-70124400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:70120400-70124400	Weak transcription	Fetal Heart	heart
43	chr14:70120400-70124400	Weak transcription	Osteobl	bone
44	chr14:70120400-70124600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:70120400-70124600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:70120800-70129200	Weak transcription	Fetal Kidney	kidney
47	chr14:70121000-70124400	Weak transcription	Adipose Nuclei	Adipose
48	chr14:70121000-70124600	Weak transcription	Brain Anterior Caudate	brain
49	chr14:70121000-70124600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:70121000-70124600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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