Variant report

Variant	rs12254905
Chromosome Location	chr10:6233889-6233890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6232151..6234453-chr10:6235448..6237690,4	MCF-7	breast:
2	chr10:6227537..6229676-chr10:6232750..6234634,2	MCF-7	breast:
3	chr10:6225709..6229406-chr10:6233017..6236048,4	K562	blood:
4	chr10:6205467..6207907-chr10:6231128..6234046,3	MCF-7	breast:
5	chr10:6213667..6215175-chr10:6232475..6234152,2	MCF-7	breast:
6	chr10:6203753..6210403-chr10:6228380..6234446,7	MCF-7	breast:
7	chr10:6219224..6221919-chr10:6233756..6235338,2	K562	blood:
8	chr10:6225709..6229798-chr10:6232088..6236048,5	K562	blood:
9	chr10:6216149..6218572-chr10:6231742..6235431,4	MCF-7	breast:

No data

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12252826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57019996	0.90[EUR][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	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv894831	chr10:6215257-6236332	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
2	chr10:6214200-6239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr10:6215000-6237200	Weak transcription	Primary B cells from cord blood	blood
4	chr10:6216200-6237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:6219000-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:6219200-6236400	Weak transcription	Primary T cells from cord blood	blood
7	chr10:6219200-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:6219200-6242200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:6219200-6242400	Weak transcription	NHEK	skin
10	chr10:6220400-6242600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr10:6220800-6237200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:6222800-6242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:6224600-6242000	Weak transcription	A549	lung
14	chr10:6224800-6236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:6224800-6242200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:6225000-6234000	Weak transcription	Colonic Mucosa	Colon
17	chr10:6225400-6237200	Weak transcription	Thymus	Thymus
18	chr10:6225600-6234400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:6228600-6234000	Weak transcription	NH-A	brain
20	chr10:6228600-6237200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:6228600-6242400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:6228800-6236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:6230400-6242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:6230400-6242200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:6230800-6242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr10:6231200-6236400	Weak transcription	HUVEC	blood vessel
27	chr10:6231200-6242600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:6232200-6234000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:6232400-6235200	Enhancers	Right Ventricle	heart
30	chr10:6232400-6238600	Enhancers	Fetal Muscle Leg	muscle
31	chr10:6232400-6240000	Enhancers	Adipose Nuclei	Adipose
32	chr10:6232800-6234000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr10:6232800-6234600	Enhancers	Fetal Muscle Trunk	muscle
34	chr10:6232800-6235600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:6233200-6234200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr10:6233200-6234200	Enhancers	Psoas Muscle	Psoas
37	chr10:6233200-6234600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr10:6233200-6234800	Enhancers	Fetal Heart	heart
39	chr10:6233200-6234800	Enhancers	Fetal Stomach	stomach
40	chr10:6233200-6234800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr10:6233200-6235000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:6233200-6235000	Enhancers	Ovary	ovary
43	chr10:6233200-6235000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr10:6233200-6235000	Enhancers	NHLF	lung
45	chr10:6233200-6235200	Enhancers	Liver	Liver
46	chr10:6233200-6235200	Enhancers	Rectal Smooth Muscle	rectum
47	chr10:6233200-6235200	Enhancers	Spleen	Spleen
48	chr10:6233200-6237200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:6233200-6237800	Enhancers	Lung	lung
50	chr10:6233200-6242200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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