Variant report

Variant	rs74150104
Chromosome Location	chr10:90639029-90639030
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	EP300	chr10:90638590-90642773	SK-N-SH	brain:	n/a	chr10:90639920-90639929 chr10:90638982-90638996 chr10:90640598-90640607 chr10:90639917-90639926
2	POLR2A	chr10:90639019-90642990	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr10:90638998-90642809	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90634887..90637855-chr10:90638729..90640945,2	MCF-7	breast:

Variant related genes	Relation type
STAMBPL1	TF binding region
ENSG00000234256	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12245525	0.86[ASN][1000 genomes]
rs12245668	0.86[ASN][1000 genomes]
rs12247227	1.00[EUR][1000 genomes]
rs12254451	0.86[ASN][1000 genomes]
rs12261664	1.00[EUR][1000 genomes]
rs12263461	0.86[ASN][1000 genomes]
rs1441742	0.87[AFR][1000 genomes]
rs17113812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145761	0.87[ASN][1000 genomes]
rs7077019	0.86[ASN][1000 genomes]
rs7090604	0.86[ASN][1000 genomes]
rs7098246	0.87[ASN][1000 genomes]
rs74147302	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74150103	1.00[EUR][1000 genomes]
rs7899463	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911566	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913997	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90635000-90639200	Weak transcription	Fetal Heart	heart
2	chr10:90635000-90639400	Weak transcription	Ovary	ovary
3	chr10:90636800-90639200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr10:90637200-90639200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr10:90637400-90639200	Enhancers	Primary T cells from cord blood	blood
6	chr10:90637400-90639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:90637600-90639600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:90638000-90639200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:90638000-90639200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:90638000-90639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:90638000-90639400	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:90638000-90639400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr10:90638000-90639400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr10:90638000-90639600	Enhancers	Fetal Thymus	thymus
15	chr10:90638200-90639200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr10:90638200-90639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:90638200-90639200	Enhancers	GM12878-XiMat	blood
18	chr10:90638200-90639400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr10:90638200-90639400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr10:90638200-90639400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr10:90638200-90639400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr10:90638200-90639400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr10:90638200-90639400	Enhancers	Fetal Intestine Large	intestine
24	chr10:90638200-90639400	Enhancers	Fetal Muscle Leg	muscle
25	chr10:90638200-90639800	Flanking Active TSS	Dnd41	blood
26	chr10:90638400-90639200	Enhancers	Adipose Nuclei	Adipose
27	chr10:90638400-90639400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:90638400-90639400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:90638400-90639400	Enhancers	HSMM	muscle
30	chr10:90638600-90639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:90638600-90639400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:90638600-90639400	Enhancers	Fetal Intestine Small	intestine
33	chr10:90638800-90639200	Enhancers	Brain Cingulate Gyrus	brain
34	chr10:90639000-90639200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:90639000-90639200	Enhancers	Brain Anterior Caudate	brain
36	chr10:90639000-90639200	Enhancers	Brain Hippocampus Middle	brain
37	chr10:90639000-90639200	Enhancers	Duodenum Mucosa	Duodenum
38	chr10:90639000-90639200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr10:90639000-90639200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr10:90639000-90639200	Enhancers	A549	lung
41	chr10:90639000-90639400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:90639000-90639400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr10:90639000-90639400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:90639000-90639400	Enhancers	Brain Angular Gyrus	brain
45	chr10:90639000-90639400	Enhancers	NHDF-Ad	bronchial
46	chr10:90639000-90639400	Enhancers	Osteobl	bone
47	chr10:90639000-90639600	Enhancers	Primary B cells from peripheral blood	blood
48	chr10:90639000-90639600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr10:90639000-90639600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr10:90639000-90639800	Flanking Active TSS	Hela-S3	cervix

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