Variant report

Variant	rs12248328
Chromosome Location	chr10:6295404-6295405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6293343..6295855-chr10:6296691..6299351,2	MCF-7	breast:
2	chr10:6243908..6246247-chr10:6293103..6296885,3	MCF-7	breast:
3	chr10:6294016..6296122-chr10:6296989..6299359,3	K562	blood:

Variant related genes	Relation type
ENSG00000213994	Chromatin interaction
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57493065	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv521313	chr10:6294804-6295548	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6276800-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:6278600-6297600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:6278800-6312400	Weak transcription	Thymus	Thymus
4	chr10:6279200-6303400	Weak transcription	Primary T cells from cord blood	blood
5	chr10:6281400-6309200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr10:6282200-6300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:6285600-6297600	Weak transcription	Adipose Nuclei	Adipose
8	chr10:6285600-6297800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:6285800-6302000	Weak transcription	Primary B cells from cord blood	blood
10	chr10:6286400-6304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:6286400-6308600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:6286600-6297800	Weak transcription	Lung	lung
13	chr10:6289600-6298600	Weak transcription	Aorta	Aorta
14	chr10:6289600-6299800	Weak transcription	Left Ventricle	heart
15	chr10:6289600-6302000	Weak transcription	Spleen	Spleen
16	chr10:6289800-6302400	Weak transcription	Ovary	ovary
17	chr10:6290200-6296600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:6290400-6297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:6290400-6308800	Weak transcription	Brain Substantia Nigra	brain
20	chr10:6290400-6309000	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:6291600-6295600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:6291600-6295800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr10:6294200-6297600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr10:6295400-6295600	Enhancers	Pancreas	Pancrea
25	chr10:6295400-6297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:6295400-6298000	Weak transcription	Placenta Amnion	Placenta Amnion

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