Variant report

Variant	rs11101499
Chromosome Location	chr10:50008208-50008209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr10:50008162-50008960	HL-60	blood:	n/a	n/a
2	GABPA	chr10:50008159-50008680	K562	blood:	n/a	n/a
3	GABPA	chr10:50008180-50008771	HL-60	blood:	n/a	n/a
4	SPI1	chr10:50008198-50008769	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50001268..50003610-chr10:50006671..50009349,2	MCF-7	breast:

Variant related genes	Relation type
WDFY4	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10857636	0.86[EUR][1000 genomes]
rs10857637	0.86[EUR][1000 genomes]
rs10857638	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10857639	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10857645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10857648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10857649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11101475	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11101487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11101488	1.00[EUR][1000 genomes]
rs11101505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11815762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11816499	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11816771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12257841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1871604	0.82[EUR][1000 genomes]
rs2683611	0.82[EUR][1000 genomes]
rs2940706	1.00[EUR][1000 genomes]
rs41282003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838860	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61838861	1.00[EUR][1000 genomes]
rs61838862	1.00[EUR][1000 genomes]
rs61838863	1.00[AMR][1000 genomes];1.00[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50000000-50008400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:50000400-50008400	Weak transcription	Colonic Mucosa	Colon
3	chr10:50001000-50012800	Weak transcription	Right Ventricle	heart
4	chr10:50001200-50009400	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:50002600-50008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:50002800-50008400	Weak transcription	Liver	Liver
7	chr10:50003000-50008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:50003000-50008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:50003000-50009400	Weak transcription	Left Ventricle	heart
10	chr10:50003200-50008400	Weak transcription	HMEC	breast
11	chr10:50004000-50011000	Weak transcription	Lung	lung
12	chr10:50005200-50008400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:50005200-50008400	Weak transcription	Spleen	Spleen
14	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:50005400-50011000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:50006000-50008400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr10:50006600-50010400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:50006600-50010800	Genic enhancers	GM12878-XiMat	blood
19	chr10:50007000-50009000	Enhancers	Primary B cells from peripheral blood	blood
20	chr10:50007000-50012800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:50007200-50008400	Weak transcription	Adipose Nuclei	Adipose
22	chr10:50007200-50008400	Weak transcription	NHEK	skin
23	chr10:50007200-50014600	Weak transcription	NHLF	lung
24	chr10:50007200-50017200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:50007600-50008400	Enhancers	Primary B cells from cord blood	blood
26	chr10:50007600-50013000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr10:50007800-50008600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr10:50008000-50009600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:50008200-50008400	Weak transcription	Right Atrium	heart
30	chr10:50008200-50009000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr10:50008200-50009200	Flanking Active TSS	Dnd41	blood
32	chr10:50008200-50009600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:50008200-50009600	Enhancers	HUVEC	blood vessel
34	chr10:50008200-50009600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr10:50008200-50009800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:50008200-50009800	Enhancers	Fetal Thymus	thymus
37	chr10:50008200-50010000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr10:50008200-50010400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr10:50008200-50012400	Enhancers	Primary T cells from cord blood	blood
40	chr10:50008200-50012600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr10:50008200-50013600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:50008200-50015000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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