Variant report

Variant	rs2457215
Chromosome Location	chr10:50020173-50020174
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50018526..50021577-chr10:50026027..50031410,4	MCF-7	breast:
2	chr10:50000720..50003091-chr10:50019887..50021986,2	MCF-7	breast:
3	chr10:50009310..50017840-chr10:50018505..50026491,17	MCF-7	breast:
4	chr10:50019507..50021681-chr10:50026930..50029178,2	K562	blood:

Variant related genes	Relation type
ENSG00000128815	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1871607	1.00[AMR][1000 genomes]
rs2663039	1.00[AMR][1000 genomes]
rs2663042	1.00[AMR][1000 genomes]
rs2663065	1.00[AMR][1000 genomes]
rs2671693	1.00[AMR][1000 genomes]
rs2940711	0.81[AFR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50009600-50028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:50013200-50023800	Strong transcription	GM12878-XiMat	blood
4	chr10:50013600-50028200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:50014200-50030000	Weak transcription	Right Atrium	heart
7	chr10:50014600-50020800	Strong transcription	Primary hematopoietic stem cells	blood
8	chr10:50014600-50021800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:50014800-50020600	Weak transcription	Adipose Nuclei	Adipose
10	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:50015000-50023000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr10:50015200-50063400	Strong transcription	Primary B cells from cord blood	blood
14	chr10:50015600-50023200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:50015600-50029800	Weak transcription	Gastric	stomach
16	chr10:50016200-50063000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr10:50016200-50063000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr10:50016600-50022800	Strong transcription	Spleen	Spleen
19	chr10:50016600-50062400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:50017000-50022600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:50017600-50023600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:50017800-50022000	Weak transcription	Lung	lung
23	chr10:50018400-50021200	Enhancers	Fetal Muscle Trunk	muscle
24	chr10:50018800-50020400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:50019000-50020200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:50019000-50020200	Enhancers	NHEK	skin
27	chr10:50019200-50020200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:50019200-50020200	Enhancers	HMEC	breast
29	chr10:50019400-50029000	Weak transcription	Primary T cells from cord blood	blood
30	chr10:50019800-50020600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:50020000-50020400	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:50020000-50020400	Weak transcription	Left Ventricle	heart
33	chr10:50020000-50052000	Weak transcription	Rectal Mucosa Donor 29	rectum

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