Variant report

Variant	rs74088369
Chromosome Location	chr12:39769360-39769361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39768164..39770883-chr12:39771123..39773923,3	K562	blood:
2	chr12:39766807..39768997-chr12:39769052..39771333,2	MCF-7	breast:
3	chr12:39762097..39763744-chr12:39766808..39769516,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55756650	1.00[AFR][1000 genomes]
rs56114183	1.00[AFR][1000 genomes]
rs56224231	1.00[AFR][1000 genomes]
rs57847806	1.00[AFR][1000 genomes]
rs74086512	1.00[AFR][1000 genomes]
rs74086516	1.00[AFR][1000 genomes]
rs74086528	1.00[AFR][1000 genomes]
rs74086539	1.00[AFR][1000 genomes]
rs74088350	1.00[AFR][1000 genomes]
rs74088351	1.00[AFR][1000 genomes]
rs74088356	1.00[AFR][1000 genomes]
rs74088360	1.00[AFR][1000 genomes]
rs74088362	1.00[AFR][1000 genomes]
rs74088365	1.00[AFR][1000 genomes]
rs74088368	1.00[AFR][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	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
2	chr12:39721000-39770600	Weak transcription	Gastric	stomach
3	chr12:39727000-39779200	Weak transcription	Aorta	Aorta
4	chr12:39745000-39778600	Weak transcription	Pancreas	Pancrea
5	chr12:39751400-39770400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:39751600-39771800	Weak transcription	Brain Anterior Caudate	brain
7	chr12:39757000-39784600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:39758600-39770600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
10	chr12:39762800-39771200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:39763000-39781400	Weak transcription	A549	lung
12	chr12:39764000-39781000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:39765800-39772200	Weak transcription	Left Ventricle	heart
14	chr12:39766600-39769800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:39767400-39770800	Weak transcription	Right Ventricle	heart
16	chr12:39767400-39784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:39767600-39769400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:39767600-39791400	Weak transcription	GM12878-XiMat	blood
19	chr12:39767800-39771000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:39767800-39784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:39768000-39776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:39769000-39769400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:39769000-39769400	Enhancers	Ovary	ovary
24	chr12:39769000-39769800	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:39769200-39769400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:39769200-39769400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:39769200-39769400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:39769200-39769400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:39769200-39769400	Enhancers	Fetal Heart	heart
30	chr12:39769200-39769600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:39769200-39769800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:39769200-39771800	Weak transcription	Brain Angular Gyrus	brain

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