Variant report

Variant	rs17157771
Chromosome Location	chr10:45916226-45916227
allele	A/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	POLR2A	chr10:45915918-45916260	GM12878	blood:	n/a	n/a
2	PAX5	chr10:45915860-45916251	GM12891	blood:	n/a	chr10:45916026-45916035
3	MXI1	chr10:45915900-45916312	GM12878	blood:	n/a	n/a
4	ESR1	chr10:45915822-45916366	ECC-1	luminal epithelium:	n/a	n/a
5	STAT1	chr10:45915814-45916279	GM12878	blood:	n/a	chr10:45916026-45916037
6	BCLAF1	chr10:45915782-45916361	GM12878	blood:	n/a	chr10:45916026-45916035
7	POLR2A	chr10:45913251-45917890	GM19099	blood:	n/a	n/a
8	PAX5	chr10:45915898-45916248	GM12878	blood:	n/a	chr10:45916026-45916035
9	POLR2A	chr10:45913144-45917408	GM18526	blood:	n/a	n/a
10	MAX	chr10:45915852-45916432	ECC-1	luminal epithelium:	n/a	chr10:45916395-45916404
11	POLR2A	chr10:45915895-45916238	GM12878	blood:	n/a	n/a
12	FOXM1	chr10:45915810-45916433	ECC-1	luminal epithelium:	n/a	n/a
13	BHLHE40	chr10:45915744-45916314	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:45913468-45917233	PBDE	blood:	n/a	n/a
15	NFATC1	chr10:45914954-45916265	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:45915768-45916327	GM12892	blood:	n/a	n/a
17	TCF12	chr10:45915859-45916271	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:45915896-45916627	HL-60	blood:	n/a	n/a
19	ESR1	chr10:45915909-45916342	ECC-1	luminal epithelium:	n/a	n/a
20	WRNIP1	chr10:45915880-45916493	GM12878	blood:	n/a	n/a
21	STAT5A	chr10:45915738-45916781	GM12878	blood:	n/a	chr10:45916026-45916037
22	TEAD4	chr10:45915806-45916457	ECC-1	luminal epithelium:	n/a	n/a
23	RAD21	chr10:45915836-45916472	ECC-1	luminal epithelium:	n/a	chr10:45916010-45916022
24	CTCF	chr10:45916026-45916237	GM12878	blood:	n/a	chr10:45916145-45916153
25	POLR2A	chr10:45915812-45916388	GM12891	blood:	n/a	n/a
26	RAD21	chr10:45915959-45916321	ECC-1	luminal epithelium:	n/a	chr10:45916010-45916022
27	SMC3	chr10:45915916-45916339	Hela-S3	cervix:	n/a	n/a
28	FOS	chr10:45915953-45916253	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr10:45913854-45916454	GM12892	blood:	n/a	n/a
30	USF1	chr10:45915962-45916380	ECC-1	luminal epithelium:	n/a	n/a
31	SPI1	chr10:45915900-45916293	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:45915920-45916266	HUVEC	blood vessel:	n/a	n/a
33	NFIC	chr10:45915724-45916762	ECC-1	luminal epithelium:	n/a	chr10:45916144-45916172
34	POLR2A	chr10:45913219-45917686	GM18951	blood:	n/a	n/a
35	POU2F2	chr10:45915874-45916233	GM12878	blood:	n/a	n/a
36	IRF4	chr10:45915848-45916368	GM12878	blood:	n/a	chr10:45916024-45916038
37	MAX	chr10:45915804-45916438	ECC-1	luminal epithelium:	n/a	chr10:45916395-45916404
38	SPI1	chr10:45915958-45916259	GM12891	blood:	n/a	n/a
39	RUNX3	chr10:45915779-45916346	GM12878	blood:	n/a	n/a
40	TEAD4	chr10:45915881-45916419	ECC-1	luminal epithelium:	n/a	n/a
41	MEF2A	chr10:45915692-45916275	GM12878	blood:	n/a	n/a
42	TCF12	chr10:45915799-45916601	ECC-1	luminal epithelium:	n/a	chr10:45916536-45916546
43	STAT5A	chr10:45915657-45916382	GM12878	blood:	n/a	chr10:45916026-45916037
44	MYC	chr10:45915680-45916312	MCF10A-Er-Src	breast:	n/a	n/a
45	TBL1XR1	chr10:45915697-45916939	GM12878	blood:	n/a	n/a
46	YY1	chr10:45915883-45916374	GM12878	blood:	n/a	n/a
47	TCF12	chr10:45915733-45916521	ECC-1	luminal epithelium:	n/a	n/a
48	ZEB1	chr10:45915917-45916643	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:45915765-45916324	GM12891	blood:	n/a	n/a
50	POLR2A	chr10:45914043-45916918	GM15510	blood:	n/a	n/a

Variant related genes	Relation type
ALOX5	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1080264	0.91[YRI][hapmap]
rs28395866	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780902	0.97[EUR][1000 genomes]
rs55661611	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077173	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7080977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73283191	0.97[EUR][1000 genomes]
rs73283196	0.97[EUR][1000 genomes]
rs73283198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv895110	chr10:45912771-45953767	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45913600-45917000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr10:45913600-45917000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr10:45913800-45916400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr10:45913800-45916800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr10:45913800-45917200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:45914000-45916400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr10:45914000-45916600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr10:45914000-45916600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:45914000-45917400	Enhancers	Fetal Brain Male	brain
10	chr10:45914600-45918800	Enhancers	Dnd41	blood
11	chr10:45914800-45916400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr10:45914800-45916400	Enhancers	Fetal Heart	heart
13	chr10:45914800-45916400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr10:45914800-45916600	Enhancers	Gastric	stomach
15	chr10:45915000-45916800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:45915000-45917200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:45915200-45916600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr10:45915200-45916800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr10:45915200-45917000	Flanking Active TSS	GM12878-XiMat	blood
20	chr10:45915200-45918600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:45915200-45919200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr10:45915400-45916400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:45915400-45916400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:45915400-45916400	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr10:45915400-45916400	Enhancers	HUVEC	blood vessel
26	chr10:45915400-45916600	Enhancers	Left Ventricle	heart
27	chr10:45915400-45916600	Enhancers	Right Ventricle	heart
28	chr10:45915400-45916800	Enhancers	Lung	lung
29	chr10:45915400-45916800	Enhancers	Spleen	Spleen
30	chr10:45915400-45917000	Enhancers	Placenta	Placenta
31	chr10:45915600-45916400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:45915600-45916400	Enhancers	Liver	Liver
33	chr10:45915600-45916400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr10:45915600-45916400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr10:45915600-45916600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:45915600-45916600	Enhancers	Brain Angular Gyrus	brain
37	chr10:45915600-45916600	Enhancers	Fetal Lung	lung
38	chr10:45915600-45916800	Enhancers	Brain Cingulate Gyrus	brain
39	chr10:45915600-45916800	Enhancers	Fetal Brain Female	brain
40	chr10:45915600-45916800	Enhancers	HSMM	muscle
41	chr10:45915600-45917000	Enhancers	Right Atrium	heart
42	chr10:45915600-45917200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr10:45915600-45917200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:45915600-45917200	Enhancers	Fetal Stomach	stomach
45	chr10:45915600-45917400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:45915600-45917800	Enhancers	Adipose Nuclei	Adipose
47	chr10:45915600-45918400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr10:45915600-45918600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr10:45915600-45923200	Enhancers	Fetal Thymus	thymus
50	chr10:45915800-45916400	Flanking Active TSS	Brain Anterior Caudate	brain

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