Variant report

Variant	rs12435734
Chromosome Location	chr14:33041821-33041822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33040924..33044247-chr14:33045114..33047639,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10135025	0.82[ASW][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.99[ASN][1000 genomes]
rs12432041	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950701	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1956209	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2144912	0.93[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs8017249	0.82[YRI][hapmap]
rs979494	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12435734	HEATR5A	cis	cerebellum	SCAN
rs12435734	ARHGAP5-AS1	cis	lung	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33034400-33058200	Weak transcription	Psoas Muscle	Psoas
2	chr14:33034800-33042000	Weak transcription	Left Ventricle	heart
3	chr14:33035000-33045600	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:33035000-33045600	Weak transcription	HSMMtube	muscle
5	chr14:33035400-33062600	Weak transcription	Aorta	Aorta
6	chr14:33037000-33045600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:33037200-33042000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:33037200-33042200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:33037600-33045600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:33040600-33042000	Enhancers	Fetal Intestine Large	intestine
11	chr14:33041000-33042400	Enhancers	Colon Smooth Muscle	Colon
12	chr14:33041000-33045800	Weak transcription	Brain Germinal Matrix	brain
13	chr14:33041200-33042200	Enhancers	Brain Substantia Nigra	brain
14	chr14:33041200-33042200	Enhancers	Rectal Smooth Muscle	rectum
15	chr14:33041200-33042400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr14:33041200-33042400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr14:33041200-33042400	Enhancers	Stomach Smooth Muscle	stomach
18	chr14:33041200-33042400	Enhancers	HepG2	liver
19	chr14:33041400-33042200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:33041400-33042200	Flanking Active TSS	GM12878-XiMat	blood
21	chr14:33041400-33042400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:33041600-33042000	Active TSS	Liver	Liver
23	chr14:33041600-33042200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr14:33041600-33042400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:33041600-33042400	Enhancers	Brain Hippocampus Middle	brain
26	chr14:33041600-33042600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:33041600-33042600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:33041600-33042600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:33041600-33042800	Enhancers	Fetal Heart	heart
30	chr14:33041600-33043200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:33041800-33042200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr14:33041800-33042200	Weak transcription	Right Ventricle	heart
33	chr14:33041800-33042400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:33041800-33042400	Flanking Active TSS	Fetal Intestine Small	intestine

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