Variant report

Variant	rs2448542
Chromosome Location	chr10:50013747-50013748
allele	C/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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50007868..50011089-chr10:50011494..50014036,4	MCF-7	breast:
2	chr10:50012510..50015290-chr10:50020965..50023375,3	MCF-7	breast:
3	chr10:50011032..50014812-chr10:50025927..50027937,3	K562	blood:
4	chr10:50011096..50015039-chr10:50015649..50020097,7	MCF-7	breast:
5	chr10:50012503..50014685-chr10:50027009..50029930,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK8-7	chr10:50013707-50014132	ucscGeneNc_uc001jhi_1

No data

Variant related genes	Relation type
ENSG00000128815	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2620886	1.00[AMR][1000 genomes]
rs2663036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2683612	1.00[AMR][1000 genomes]
rs2940706	0.85[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50007200-50014600	Weak transcription	NHLF	lung
3	chr10:50007200-50017200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:50008200-50015000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:50009200-50015200	Genic enhancers	Primary B cells from cord blood	blood
6	chr10:50009600-50014800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr10:50009600-50028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:50010800-50014800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr10:50010800-50016000	Enhancers	Fetal Thymus	thymus
10	chr10:50011000-50014000	Enhancers	Fetal Brain Male	brain
11	chr10:50011000-50014600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:50011200-50014800	Enhancers	Brain Germinal Matrix	brain
13	chr10:50011200-50015400	Enhancers	Fetal Muscle Leg	muscle
14	chr10:50011200-50016600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
15	chr10:50011400-50016200	Genic enhancers	Primary monocytes fromperipheralblood	blood
16	chr10:50011600-50013800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:50011600-50016200	Genic enhancers	Monocytes-CD14+_RO01746	blood
18	chr10:50011600-50017000	Enhancers	Fetal Stomach	stomach
19	chr10:50011800-50014600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr10:50012000-50014800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:50012000-50014800	Enhancers	Fetal Lung	lung
22	chr10:50012200-50014200	Enhancers	Brain Cingulate Gyrus	brain
23	chr10:50012200-50014600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:50012400-50014600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr10:50012400-50014600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr10:50012600-50013800	Enhancers	Primary hematopoietic stem cells	blood
27	chr10:50012600-50014600	Enhancers	Fetal Intestine Large	intestine
28	chr10:50012600-50014600	Enhancers	Left Ventricle	heart
29	chr10:50012600-50015000	Enhancers	Fetal Muscle Trunk	muscle
30	chr10:50012800-50013800	Enhancers	Adipose Nuclei	Adipose
31	chr10:50012800-50014000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:50012800-50014000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:50012800-50014400	Enhancers	Fetal Heart	heart
34	chr10:50012800-50014600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:50012800-50014800	Enhancers	Brain Angular Gyrus	brain
36	chr10:50012800-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:50012800-50016800	Enhancers	NHEK	skin
38	chr10:50013000-50013800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr10:50013000-50014200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:50013000-50014200	Enhancers	Right Atrium	heart
41	chr10:50013000-50014600	Enhancers	Fetal Brain Female	brain
42	chr10:50013000-50014600	Enhancers	Fetal Intestine Small	intestine
43	chr10:50013000-50014800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr10:50013000-50014800	Enhancers	Lung	lung
45	chr10:50013000-50014800	Genic enhancers	Spleen	Spleen
46	chr10:50013000-50015000	Enhancers	Brain Anterior Caudate	brain
47	chr10:50013000-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:50013200-50014000	Enhancers	Brain Substantia Nigra	brain
49	chr10:50013200-50014000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:50013200-50014200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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