Variant report

Variant	rs10149509
Chromosome Location	chr14:33199041-33199042
allele	C/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	RAD21	chr14:33198999-33199161	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
AKAP6	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1013682	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs1040601	0.88[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1295912	0.83[CEU][hapmap]
rs1296837	0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17099499	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17440692	0.88[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs17440720	0.88[CEU][hapmap]
rs2239646	0.81[CHD][hapmap]
rs2300830	0.83[CHD][hapmap]
rs2300831	0.88[CEU][hapmap];0.87[TSI][hapmap]
rs2300832	0.83[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs2300833	0.82[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300834	0.88[CEU][hapmap]
rs2300837	0.87[CEU][hapmap];0.86[TSI][hapmap]
rs2474642	0.83[CEU][hapmap]
rs3784209	0.88[CHD][hapmap]
rs4981999	0.88[CEU][hapmap]
rs4982001	0.83[CEU][hapmap]
rs4982002	0.83[CEU][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs73266957	0.85[EUR][1000 genomes]
rs8018377	0.94[ASN][1000 genomes]
rs8018424	0.93[ASN][1000 genomes]
rs981524	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832765	chr14:33188170-33367348	Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33192400-33207200	Weak transcription	Left Ventricle	heart
2	chr14:33194600-33202800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:33194600-33225600	Weak transcription	Aorta	Aorta
4	chr14:33194800-33202600	Enhancers	Brain Substantia Nigra	brain
5	chr14:33194800-33222200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:33195000-33199400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:33195000-33200000	Weak transcription	Liver	Liver
8	chr14:33195000-33204600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:33195200-33205600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:33195200-33209200	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:33195800-33202200	Weak transcription	HSMMtube	muscle
12	chr14:33196200-33208000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:33196800-33199200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:33196800-33200400	Enhancers	Brain Hippocampus Middle	brain
15	chr14:33197000-33199200	Enhancers	Brain Angular Gyrus	brain
16	chr14:33197200-33199800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:33197800-33200400	Enhancers	Brain Germinal Matrix	brain
18	chr14:33198200-33201000	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:33198400-33200200	Weak transcription	Fetal Brain Female	brain
20	chr14:33198400-33201600	Weak transcription	Brain Anterior Caudate	brain
21	chr14:33198600-33199600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:33198600-33214800	Weak transcription	Right Ventricle	heart
23	chr14:33198800-33199400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:33198800-33199400	Enhancers	Fetal Heart	heart
25	chr14:33199000-33218000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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