Variant report

Variant	rs1275683
Chromosome Location	chr14:69806055-69806056
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69805502..69808106-chr14:69810708..69812563,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1147463	0.88[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs1147465	0.86[ASN][1000 genomes]
rs1275678	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1275679	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1275681	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275684	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275685	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275687	0.84[ASN][1000 genomes]
rs1275691	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs12879377	0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12894211	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1290036	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv456334	chr14:69793624-69831037	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564966	chr14:69793624-69831037	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1275683	TMEM121	trans	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69788800-69810400	Weak transcription	NHDF-Ad	bronchial
2	chr14:69791000-69817400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69792200-69812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:69793400-69818800	Weak transcription	Spleen	Spleen
5	chr14:69793400-69821200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:69793400-69822600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:69793600-69806200	Weak transcription	Fetal Intestine Large	intestine
8	chr14:69798200-69809400	Weak transcription	Pancreas	Pancrea
9	chr14:69798800-69806200	Weak transcription	Left Ventricle	heart
10	chr14:69800800-69807400	Weak transcription	Fetal Stomach	stomach
11	chr14:69800800-69815200	Weak transcription	Brain Germinal Matrix	brain
12	chr14:69800800-69821800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:69801200-69812000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:69801600-69807800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:69803400-69807800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:69803400-69809800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:69803400-69820800	Weak transcription	Esophagus	oesophagus
18	chr14:69804200-69809000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:69804200-69812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:69804400-69806200	Strong transcription	Fetal Muscle Leg	muscle
21	chr14:69804600-69808600	Strong transcription	Right Ventricle	heart
22	chr14:69805200-69807000	Strong transcription	Fetal Brain Female	brain
23	chr14:69805200-69809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:69805400-69806400	Strong transcription	Fetal Intestine Small	intestine
25	chr14:69805400-69806600	Strong transcription	Brain Anterior Caudate	brain
26	chr14:69805400-69807600	Weak transcription	Lung	lung
27	chr14:69805600-69807000	Strong transcription	Brain Cingulate Gyrus	brain
28	chr14:69805800-69806600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr14:69805800-69806800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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