Variant report

Variant	rs11611042
Chromosome Location	chr12:39797147-39797148
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39793686..39797447-chr12:39835348..39837306,4	MCF-7	breast:
2	chr12:39792266..39793961-chr12:39796104..39798981,2	MCF-7	breast:
3	chr12:39796736..39799159-chr12:39806907..39808655,2	K562	blood:
4	chr12:39786015..39787955-chr12:39796804..39799333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10243	1.00[CEU][hapmap]
rs35717937	1.00[CHB][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	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
2	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
2	chr12:39781400-39800200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:39785000-39829200	Weak transcription	K562	blood
4	chr12:39789000-39799400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:39789200-39800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
7	chr12:39791800-39797800	Enhancers	Fetal Heart	heart
8	chr12:39791800-39799600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:39792600-39798000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:39793600-39799800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
12	chr12:39795400-39803000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:39795600-39799600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:39795600-39799800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:39795600-39800200	Weak transcription	Ovary	ovary
17	chr12:39796200-39805600	Weak transcription	Liver	Liver
18	chr12:39796400-39798200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:39796400-39798200	Enhancers	NHEK	skin
20	chr12:39796600-39797200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:39796600-39797200	Enhancers	Brain Anterior Caudate	brain
22	chr12:39796600-39797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:39796600-39797800	Weak transcription	Left Ventricle	heart
24	chr12:39796800-39797200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:39796800-39797200	Enhancers	A549	lung
26	chr12:39796800-39797200	Enhancers	NHDF-Ad	bronchial
27	chr12:39796800-39797600	Enhancers	HMEC	breast
28	chr12:39796800-39798200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:39797000-39797200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:39797000-39797400	Weak transcription	GM12878-XiMat	blood
31	chr12:39797000-39800200	Weak transcription	Brain Substantia Nigra	brain

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