Variant report

Variant	rs576468829
Chromosome Location	chr10:5904752-5904753
allele	A/C
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	EBF1	chr10:5904188-5905055	GM12878	blood:	n/a	n/a
2	ATF2	chr10:5904094-5905203	GM12878	blood:	n/a	n/a
3	BATF	chr10:5904206-5904991	GM12878	blood:	n/a	n/a
4	STAT5A	chr10:5904184-5904877	GM12878	blood:	n/a	chr10:5904823-5904835 chr10:5904828-5904840
5	RUNX3	chr10:5904062-5905077	GM12878	blood:	n/a	n/a
6	RELA	chr10:5904190-5905122	GM12891	blood:	n/a	n/a
7	MEF2C	chr10:5904074-5904934	GM12878	blood:	n/a	n/a
8	TBP	chr10:5904189-5904904	GM12878	blood:	n/a	n/a
9	ZNF384	chr10:5904184-5904791	GM12878	blood:	n/a	n/a
10	RELA	chr10:5904218-5905194	GM10847	blood:	n/a	n/a
11	POU2F2	chr10:5904207-5904830	GM12891	blood:	n/a	n/a
12	USF2	chr10:5904390-5904991	GM12878	blood:	n/a	n/a
13	MAZ	chr10:5904247-5904893	GM12878	blood:	n/a	n/a
14	EBF1	chr10:5904140-5904870	GM12878	blood:	n/a	n/a
15	ZNF143	chr10:5904255-5905177	GM12878	blood:	n/a	n/a
16	CEBPB	chr10:5904056-5904980	GM12878	blood:	n/a	n/a
17	FOXM1	chr10:5904117-5904966	GM12878	blood:	n/a	n/a
18	NFIC	chr10:5903990-5904999	GM12878	blood:	n/a	n/a
19	BATF	chr10:5904143-5905100	GM12878	blood:	n/a	n/a
20	SP1	chr10:5904172-5904840	GM12878	blood:	n/a	n/a
21	YY1	chr10:5904185-5904881	GM12878	blood:	n/a	n/a
22	RELA	chr10:5904222-5905078	GM19099	blood:	n/a	n/a
23	RELA	chr10:5904198-5905142	GM18951	blood:	n/a	n/a
24	ELF1	chr10:5904152-5904932	GM12878	blood:	n/a	n/a
25	FOXM1	chr10:5904097-5905137	GM12878	blood:	n/a	n/a
26	PAX5	chr10:5904291-5904869	GM12891	blood:	n/a	chr10:5904556-5904575
27	CHD1	chr10:5904267-5904867	GM12878	blood:	n/a	n/a
28	CUX1	chr10:5904260-5904824	GM12878	blood:	n/a	n/a
29	RXRA	chr10:5904158-5904796	GM12878	blood:	n/a	n/a
30	STAT5A	chr10:5904140-5905167	GM12878	blood:	n/a	chr10:5904823-5904835 chr10:5904828-5904840
31	BHLHE40	chr10:5904170-5904892	GM12878	blood:	n/a	n/a
32	CTCF	chr10:5904483-5905254	GM12878	blood:	n/a	n/a
33	IRF4	chr10:5904074-5904873	GM12878	blood:	n/a	n/a
34	POU2F2	chr10:5904157-5904890	GM12891	blood:	n/a	n/a
35	RUNX3	chr10:5904114-5905194	GM12878	blood:	n/a	n/a
36	RFX5	chr10:5904289-5904941	GM12878	blood:	n/a	n/a
37	EBF1	chr10:5904081-5905014	GM12878	blood:	n/a	n/a
38	POU2F2	chr10:5904073-5904817	GM12878	blood:	n/a	n/a
39	CEBPB	chr10:5904286-5904770	GM12878	blood:	n/a	n/a
40	MAX	chr10:5904303-5905159	GM12878	blood:	n/a	n/a
41	MTA3	chr10:5904091-5905002	GM12878	blood:	n/a	n/a
42	CREB1	chr10:5904117-5905044	GM12878	blood:	n/a	n/a
43	CREB1	chr10:5904075-5905144	GM12878	blood:	n/a	n/a
44	MEF2A	chr10:5904076-5904873	GM12878	blood:	n/a	n/a
45	RELA	chr10:5904212-5905148	GM12892	blood:	n/a	n/a
46	TCF12	chr10:5904154-5904859	GM12878	blood:	n/a	n/a
47	IRF4	chr10:5904079-5905017	GM12878	blood:	n/a	n/a
48	BCL11A	chr10:5904162-5905104	GM12878	blood:	n/a	n/a
49	JUND	chr10:5904109-5905287	GM12878	blood:	n/a	n/a
50	WRNIP1	chr10:5904206-5905242	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5903402..5905306-chr10:5930976..5933543,3	MCF-7	breast:
2	chr10:5853575..5857221-chr10:5900529..5905112,5	MCF-7	breast:
3	chr10:5904346..5907644-chr10:5928919..5931742,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240180	TF binding region
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000134452	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv466722	chr10:5893268-5916201	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv549904	chr10:5893268-5916201	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv437655	chr10:5900973-5910361	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv520941	chr10:5903518-5904918	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv519773	chr10:5904300-5905231	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5894600-5908600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:5894600-5908600	Weak transcription	K562	blood
3	chr10:5894600-5916800	Weak transcription	Spleen	Spleen
4	chr10:5896200-5912200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:5896400-5918200	Weak transcription	Fetal Lung	lung
6	chr10:5899800-5905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:5900000-5916600	Weak transcription	Pancreas	Pancrea
8	chr10:5900400-5916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:5900600-5916200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:5900800-5910600	Weak transcription	Brain Germinal Matrix	brain
11	chr10:5901000-5916600	Weak transcription	Gastric	stomach
12	chr10:5901200-5918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:5901400-5905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:5901400-5915200	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:5901600-5912600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:5901600-5915600	Weak transcription	Brain Anterior Caudate	brain
17	chr10:5901800-5910800	Weak transcription	Fetal Brain Female	brain
18	chr10:5902000-5904800	Enhancers	Placenta	Placenta
19	chr10:5902200-5905000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:5902200-5912600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:5902400-5905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:5902400-5908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:5902400-5918200	Weak transcription	Primary T cells from cord blood	blood
24	chr10:5902600-5910200	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:5902800-5916200	Weak transcription	Fetal Intestine Large	intestine
26	chr10:5902800-5916600	Weak transcription	Brain Substantia Nigra	brain
27	chr10:5902800-5918000	Weak transcription	Lung	lung
28	chr10:5903000-5905200	Enhancers	HepG2	liver
29	chr10:5903000-5912400	Weak transcription	Fetal Heart	heart
30	chr10:5903000-5915400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:5903400-5911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:5903400-5918200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:5903400-5925000	Weak transcription	Fetal Kidney	kidney
34	chr10:5903600-5904800	Enhancers	Hela-S3	cervix
35	chr10:5903600-5904800	Enhancers	NHLF	lung
36	chr10:5903600-5916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:5903800-5905400	Enhancers	Primary B cells from peripheral blood	blood
38	chr10:5903800-5907200	Strong transcription	Fetal Stomach	stomach
39	chr10:5903800-5913600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:5903800-5916000	Weak transcription	NHEK	skin
41	chr10:5903800-5916400	Weak transcription	A549	lung
42	chr10:5903800-5918200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:5904000-5905400	Flanking Active TSS	GM12878-XiMat	blood
44	chr10:5904000-5906000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:5904200-5904800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:5904200-5904800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:5904200-5905000	Strong transcription	Brain Angular Gyrus	brain
48	chr10:5904200-5905000	Strong transcription	Ovary	ovary
49	chr10:5904200-5905200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:5904200-5906000	Strong transcription	Fetal Intestine Small	intestine

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