Variant report

Variant	rs562636182
Chromosome Location	chr10:99092534-99092535
allele	-/GGA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99092397-99092905	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr10:99092357-99093886	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr10:99092280-99092943	MCF10A-Er-Src	breast:	n/a	chr10:99092719-99092730
4	CHD1	chr10:99092051-99093819	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:99092404-99095093	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr10:99092471-99093876	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr10:99092523-99092551	Hela-S3	cervix:	n/a	n/a
8	ESRRA	chr10:99091641-99094073	GM12878	blood:	n/a	n/a
9	CUX1	chr10:99092282-99092957	K562	blood:	n/a	n/a
10	MXI1	chr10:99092405-99095483	SK-N-SH	brain:	n/a	n/a
11	MAFK	chr10:99092497-99092972	K562	blood:	n/a	n/a
12	CTCF	chr10:99092221-99093601	K562	blood:	n/a	n/a
13	POLR2A	chr10:99092523-99093095	PANC-1	pancreas:	n/a	n/a
14	CHD1	chr10:99091626-99095332	IMR90	lung:	n/a	chr10:99094876-99094886
15	RAD21	chr10:99092210-99093016	HepG2	liver:	n/a	n/a
16	CTCF	chr10:99092279-99093464	IMR90	lung:	n/a	n/a
17	POLR2A	chr10:99092411-99093004	U87	brain:	n/a	n/a
18	POLR2A	chr10:99092489-99095101	K562	blood:	n/a	n/a
19	REST	chr10:99092403-99095120	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr10:99092290-99095050	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr10:99092244-99093477	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr10:99092458-99094930	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:99091687-99093824	HepG2	liver:	n/a	n/a
24	ZNF263	chr10:99092344-99094810	HEK293-T-REx	kidney:	n/a	chr10:99094297-99094318
25	POLR2A	chr10:99092404-99093018	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr10:99092461-99093083	K562	blood:	n/a	n/a
27	MAZ	chr10:99092440-99095226	IMR90	lung:	n/a	n/a
28	SMARCC1	chr10:99092479-99093852	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr10:99092267-99093644	IMR90	lung:	n/a	n/a
30	POLR2A	chr10:99092349-99093020	K562	blood:	n/a	n/a
31	SIN3A	chr10:99092459-99094949	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr10:99092392-99094098	HL-60	blood:	n/a	n/a
33	SRF	chr10:99092376-99093048	MCF-7	breast:	n/a	n/a
34	SMARCC2	chr10:99092520-99093552	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr10:99092377-99095232	IMR90	lung:	n/a	n/a
36	HCFC1	chr10:99092500-99095172	Hela-S3	cervix:	n/a	n/a
37	SMC3	chr10:99092423-99093590	Hela-S3	cervix:	n/a	n/a
38	MYBL2	chr10:99092487-99093138	HepG2	liver:	n/a	n/a
39	MYBL2	chr10:99092415-99093444	HepG2	liver:	n/a	n/a
40	MYC	chr10:99092278-99095046	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99089670..99092667-chr10:99113757..99116464,3	MCF-7	breast:
2	chr10:99037958..99038944-chr10:99092338..99093941,8	MCF-7	breast:
3	chr10:99050912..99053751-chr10:99091766..99095025,5	MCF-7	breast:
4	chr10:99092209..99093116-chr9:74980011..74980874,2	Hela-S3	cervix:
5	chr10:99048545..99053546-chr10:99092341..99096465,6	K562	blood:
6	chr10:99090785..99094308-chr10:99157737..99162145,4	MCF-7	breast:
7	chr10:99091261..99093952-chr10:99104801..99106882,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225850	TF binding region
ENSG00000107372	Chromatin interaction
ENSG00000269891	Chromatin interaction
ENSG00000231970	Chromatin interaction
ENSG00000213390	Chromatin interaction
ENSG00000052749	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv825533	chr10:99070570-99115599	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv825534	chr10:99081505-99115599	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv15055	chr10:99091979-99092632	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99081200-99092600	Weak transcription	Aorta	Aorta
2	chr10:99081800-99092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:99086800-99093200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
4	chr10:99088400-99093400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
5	chr10:99090600-99092600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:99090800-99095000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr10:99091000-99092600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr10:99091000-99092600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:99091000-99092600	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr10:99091000-99092800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:99091000-99092800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:99091200-99093200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:99091200-99093600	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr10:99091200-99093800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr10:99091400-99093000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:99091400-99093400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:99091400-99093600	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr10:99091400-99093800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:99091400-99095000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:99091400-99095200	Active TSS	Brain Anterior Caudate	brain
21	chr10:99091400-99095400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:99091400-99095400	Active TSS	K562	blood
23	chr10:99091400-99095800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:99091400-99095800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr10:99091600-99092600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr10:99091600-99093000	Active TSS	HSMM	muscle
27	chr10:99091600-99093400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr10:99091600-99093400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr10:99091600-99093600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:99091600-99093800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr10:99091600-99094400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr10:99091600-99095400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr10:99091800-99092600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr10:99091800-99092800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:99091800-99092800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr10:99091800-99092800	Active TSS	Fetal Kidney	kidney
37	chr10:99091800-99093000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:99091800-99093200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr10:99091800-99093200	Flanking Active TSS	Fetal Brain Male	brain
40	chr10:99091800-99093400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr10:99091800-99093400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:99091800-99093400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr10:99091800-99093400	Flanking Active TSS	Thymus	Thymus
44	chr10:99091800-99093600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:99091800-99093600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr10:99091800-99093600	Flanking Active TSS	NHEK	skin
47	chr10:99091800-99093800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:99091800-99093800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr10:99091800-99093800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:99091800-99095000	Active TSS	Small Intestine	intestine

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