Variant report

Variant	rs11847643
Chromosome Location	chr14:32798349-32798350
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	REST	chr14:32797986-32800744	H1-neurons	neurons:	n/a	n/a
2	EP300	chr14:32798255-32798632	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr14:32798279-32798815	H1-neurons	neurons:	n/a	n/a
4	MXI1	chr14:32797971-32801177	SK-N-SH	brain:	n/a	chr14:32798460-32798475 chr14:32798462-32798477
5	REST	chr14:32798116-32799211	H1-neurons	neurons:	n/a	n/a
6	TAF1	chr14:32798253-32798843	H1-neurons	neurons:	n/a	n/a
7	MAX	chr14:32798349-32798614	H1-hESC	embryonic stem cell:	n/a	chr14:32798462-32798471 chr14:32798466-32798475
8	POLR2A	chr14:32798262-32798667	SK-N-SH	brain:	n/a	n/a
9	RFX5	chr14:32797327-32801016	SK-N-SH	brain:	n/a	chr14:32798461-32798476 chr14:32798464-32798478 chr14:32798463-32798478 chr14:32798461-32798476 chr14:32798466-32798475 chr14:32798461-32798476 chr14:32798460-32798477
10	POLR2A	chr14:32798231-32799161	H1-neurons	neurons:	n/a	n/a
11	TAF1	chr14:32798256-32798836	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
AKAP6	TF binding region

rs_ID	r²[population]
rs10133184	1.00[MEX][hapmap]
rs10140712	1.00[MEX][hapmap]
rs17091615	1.00[AMR][1000 genomes]
rs17098817	1.00[MEX][hapmap]
rs17099064	1.00[MEX][hapmap]
rs1958369	1.00[AMR][1000 genomes]
rs2383283	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs3784169	1.00[MEX][hapmap]
rs7141680	1.00[AMR][1000 genomes]
rs7342555	1.00[MEX][hapmap]
rs8014960	1.00[MEX][hapmap]

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32788800-32811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:32790800-32799800	Weak transcription	Fetal Heart	heart
3	chr14:32796600-32802400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:32797000-32798400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:32797000-32798600	Enhancers	Left Ventricle	heart
6	chr14:32797000-32799600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:32797200-32798400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:32797200-32798400	Weak transcription	Ovary	ovary
9	chr14:32797200-32831600	Weak transcription	Right Atrium	heart
10	chr14:32797400-32798400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:32797400-32800600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:32797600-32801600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:32797800-32798400	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr14:32797800-32798600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:32797800-32803400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:32798000-32799800	Weak transcription	K562	blood
17	chr14:32798000-32801400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:32798200-32801000	Active TSS	Fetal Brain Female	brain
19	chr14:32798200-32801200	Active TSS	Brain Angular Gyrus	brain
20	chr14:32798200-32801200	Active TSS	Brain Anterior Caudate	brain
21	chr14:32798200-32801200	Active TSS	Brain Substantia Nigra	brain
22	chr14:32798200-32801400	Active TSS	Brain Cingulate Gyrus	brain
23	chr14:32798200-32801400	Active TSS	Fetal Brain Male	brain
24	chr14:32798200-32801600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:32798200-32801800	Active TSS	Brain Hippocampus Middle	brain
26	chr14:32798200-32801800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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