Variant report

Variant	rs8012632
Chromosome Location	chr14:33242349-33242350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33237236..33239475-chr14:33240396..33242556,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10143512	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs12890485	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs17091663	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2300843	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs977966	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8012632	FAM177A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33205200-33254600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:33225200-33257600	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:33225400-33242800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:33226200-33257000	Weak transcription	Left Ventricle	heart
5	chr14:33227200-33242800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:33229200-33242600	Weak transcription	HSMMtube	muscle
7	chr14:33232200-33242800	Weak transcription	Aorta	Aorta
8	chr14:33239200-33278600	Weak transcription	Right Ventricle	heart
9	chr14:33239800-33242600	Weak transcription	Fetal Brain Female	brain
10	chr14:33240600-33242600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:33240800-33242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:33241000-33253600	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:33241000-33268000	Weak transcription	Psoas Muscle	Psoas
14	chr14:33241200-33242800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:33241200-33259600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:33241400-33243200	Weak transcription	Brain Anterior Caudate	brain
17	chr14:33241600-33242800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:33241800-33243200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:33241800-33244600	Weak transcription	Liver	Liver
20	chr14:33241800-33253800	Weak transcription	Brain Substantia Nigra	brain
21	chr14:33241800-33256200	Weak transcription	Brain Germinal Matrix	brain
22	chr14:33241800-33259800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:33242000-33242800	Enhancers	Brain Angular Gyrus	brain
24	chr14:33242200-33253200	Weak transcription	Fetal Heart	heart
25	chr14:33242200-33258000	Weak transcription	Brain Hippocampus Middle	brain

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