Variant report

Variant	rs74150105
Chromosome Location	chr10:90641740-90641741
allele	C/G
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	POLR2A	chr10:90639586-90641828	Hela-S3	cervix:	n/a	n/a
2	JUND	chr10:90641714-90643165	Hela-S3	cervix:	n/a	chr10:90642202-90642211 chr10:90642504-90642515
3	PBX3	chr10:90640996-90641742	SK-N-SH	brain:	n/a	n/a
4	EP300	chr10:90638590-90642773	SK-N-SH	brain:	n/a	chr10:90639920-90639929 chr10:90638982-90638996 chr10:90640598-90640607 chr10:90639917-90639926
5	POLR2A	chr10:90639019-90642990	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr10:90638998-90642809	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr10:90639244-90642743	U87	brain:	n/a	n/a
8	POLR2A	chr10:90639276-90642610	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr10:90639403-90641833	GM19099	blood:	n/a	n/a
10	POLR2A	chr10:90639244-90642737	U87	brain:	n/a	n/a
11	RCOR1	chr10:90641226-90642667	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr10:90639524-90642618	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr10:90639152-90641954	GM12878	blood:	n/a	n/a
14	MXI1	chr10:90639648-90641861	IMR90	lung:	n/a	n/a
15	POLR2A	chr10:90639517-90641766	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:90639266-90642152	GM18505	blood:	n/a	n/a
17	POLR2A	chr10:90639136-90642144	GM12891	blood:	n/a	n/a
18	POLR2A	chr10:90639548-90642562	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr10:90639345-90642755	SK-N-SH	brain:	n/a	n/a
20	JUND	chr10:90639103-90642869	SK-N-SH	brain:	n/a	chr10:90642202-90642211 chr10:90642504-90642515

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90639301..90642051-chr10:90749823..90751899,2	MCF-7	breast:

Variant related genes	Relation type
STAMBPL1	TF binding region
ENSG00000107796	Chromatin interaction
ENSG00000026103	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11202877	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202878	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11202880	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11202881	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12248501	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12262249	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12264141	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12269097	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17113606	0.93[EUR][1000 genomes]
rs1887025	0.93[EUR][1000 genomes]
rs1926184	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926185	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885377	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57063754	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57261011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7076879	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74147302	0.90[ASN][1000 genomes]
rs7910708	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs952323	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90639000-90642200	Active TSS	Rectal Smooth Muscle	rectum
2	chr10:90639200-90642000	Active TSS	Brain Cingulate Gyrus	brain
3	chr10:90639200-90642000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr10:90639200-90642400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:90639400-90641800	Active TSS	Ovary	ovary
6	chr10:90639400-90642000	Active TSS	Right Atrium	heart
7	chr10:90639400-90642400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr10:90639600-90641800	Active TSS	Colon Smooth Muscle	Colon
9	chr10:90639600-90643000	Active TSS	A549	lung
10	chr10:90639800-90641800	Active TSS	Brain Anterior Caudate	brain
11	chr10:90639800-90641800	Active TSS	Fetal Muscle Leg	muscle
12	chr10:90639800-90642000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr10:90639800-90642000	Active TSS	Fetal Brain Female	brain
14	chr10:90639800-90642000	Active TSS	NHLF	lung
15	chr10:90639800-90642200	Active TSS	Fetal Intestine Large	intestine
16	chr10:90639800-90643200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:90639800-90643200	Active TSS	GM12878-XiMat	blood
18	chr10:90640000-90641800	Active TSS	Primary T cells fromperipheralblood	blood
19	chr10:90640200-90641800	Active TSS	Stomach Smooth Muscle	stomach
20	chr10:90640600-90642400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:90640600-90642400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:90640600-90642400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr10:90640600-90642600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:90640800-90641800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:90640800-90642000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr10:90640800-90642000	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr10:90640800-90642000	Flanking Active TSS	Fetal Thymus	thymus
28	chr10:90640800-90642200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr10:90640800-90642200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr10:90640800-90642200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:90640800-90642200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr10:90640800-90642400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr10:90640800-90642400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr10:90640800-90642400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr10:90640800-90642400	Flanking Active TSS	HMEC	breast
36	chr10:90640800-90642400	Flanking Active TSS	NHEK	skin
37	chr10:90640800-90642400	Flanking Active TSS	Osteobl	bone
38	chr10:90641000-90641800	Active TSS	Fetal Lung	lung
39	chr10:90641000-90641800	Enhancers	Stomach Mucosa	stomach
40	chr10:90641000-90642200	Active TSS	Brain Hippocampus Middle	brain
41	chr10:90641000-90642200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr10:90641000-90642400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr10:90641000-90642600	Flanking Active TSS	NH-A	brain
44	chr10:90641000-90645400	Enhancers	Small Intestine	intestine
45	chr10:90641000-90646400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:90641000-90647200	Weak transcription	Spleen	Spleen
47	chr10:90641000-90653600	Weak transcription	Gastric	stomach
48	chr10:90641200-90641800	Flanking Active TSS	Dnd41	blood
49	chr10:90641200-90642000	Enhancers	Liver	Liver
50	chr10:90641200-90642000	Active TSS	Fetal Brain Male	brain

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