Variant report

Variant	esv15055
Chromosome Location	chr10:99091979-99092632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:99092103-99092432	K562	blood:	n/a	n/a
2	BACH1	chr10:99091775-99092235	K562	blood:	n/a	n/a
3	CHD1	chr10:99091626-99095332	IMR90	lung:	n/a	chr10:99094876-99094886
4	CHD1	chr10:99092051-99093819	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr10:99092221-99092223	K562	blood:	n/a	n/a
6	CTCF	chr10:99092279-99093464	IMR90	lung:	n/a	n/a
7	CTCF	chr10:99092617-99092946	K562	blood:	n/a	n/a
8	CTCF	chr10:99092613-99093047	HepG2	liver:	n/a	n/a
9	CTCF	chr10:99092200-99092350	AG04450	lung:	n/a	n/a
10	CTCF	chr10:99092221-99093601	K562	blood:	n/a	n/a
11	CUX1	chr10:99092282-99092957	K562	blood:	n/a	n/a
12	ELF1	chr10:99092603-99092945	HepG2	liver:	n/a	n/a
13	ELF1	chr10:99092588-99092958	K562	blood:	n/a	n/a
14	ELF1	chr10:99092573-99092939	HepG2	liver:	n/a	n/a
15	ESRRA	chr10:99091641-99094073	GM12878	blood:	n/a	n/a
16	FOS	chr10:99092536-99093303	HUVEC	blood vessel:	n/a	n/a
17	GTF2F1	chr10:99092598-99093442	Hela-S3	cervix:	n/a	n/a
18	HCFC1	chr10:99092500-99095172	Hela-S3	cervix:	n/a	n/a
19	HEY1	chr10:99092547-99092997	HepG2	liver:	n/a	n/a
20	IKZF1	chr10:99092552-99093433	GM12878	blood:	n/a	n/a
21	JUND	chr10:99092336-99092503	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr10:99092592-99093700	K562	blood:	n/a	n/a
23	MAFK	chr10:99092497-99092972	K562	blood:	n/a	n/a
24	MAX	chr10:99092536-99095123	NB4	blood:	n/a	n/a
25	MAX	chr10:99092580-99094084	HepG2	liver:	n/a	n/a
26	MAZ	chr10:99092440-99095226	IMR90	lung:	n/a	n/a
27	MXI1	chr10:99092377-99095232	IMR90	lung:	n/a	n/a
28	MXI1	chr10:99092405-99095483	SK-N-SH	brain:	n/a	n/a
29	MXI1	chr10:99092585-99092973	Hela-S3	cervix:	n/a	n/a
30	MYBL2	chr10:99092487-99093138	HepG2	liver:	n/a	n/a
31	MYBL2	chr10:99092415-99093444	HepG2	liver:	n/a	n/a
32	MYC	chr10:99092278-99095046	K562	blood:	n/a	n/a
33	MYC	chr10:99092570-99092951	MCF10A-Er-Src	breast:	n/a	n/a
34	NFIC	chr10:99092543-99093029	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:99092566-99093008	IMR90	lung:	n/a	n/a
36	POLR2A	chr10:99092523-99093095	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr10:99091645-99092141	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr10:99092576-99092886	HepG2	liver:	n/a	n/a
39	POLR2A	chr10:99092584-99093077	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr10:99092290-99095050	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr10:99092404-99093018	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr10:99092411-99093004	U87	brain:	n/a	n/a
43	POLR2A	chr10:99092555-99092912	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr10:99092397-99092905	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr10:99092392-99094098	HL-60	blood:	n/a	n/a
46	POLR2A	chr10:99091820-99092002	A549	lung:	n/a	n/a
47	POLR2A	chr10:99092357-99093886	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:99092523-99092551	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr10:99092461-99093083	K562	blood:	n/a	n/a
50	POLR2A	chr10:99091605-99092063	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRAT1-2	chr10:99092554-99093019	l_354_chr10:99084502-99093019_testes

No data

Variant related genes	Relation type
ENSG00000225850	TF binding region
ENSG00000269891	chromatin interactions
ENSG00000231970	chromatin interactions
ENSG00000213390	chromatin interactions
ENSG00000107372	chromatin interactions
ENSG00000052749	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73328806	chr10:99091996-99091997	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537881920	chr10:99092089-99092090	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs139686848	chr10:99092133-99092134	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs534841488	chr10:99092150-99092151	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs553381406	chr10:99092161-99092162	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs551821155	chr10:99092165-99092166	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs11331137	chr10:99092166-99092167	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs398014549	chr10:99092167-99092168	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs61863769	chr10:99092170-99092171	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs114360854	chr10:99092238-99092239	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs557697800	chr10:99092371-99092372	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs3740518	chr10:99092372-99092373	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs183772151	chr10:99092411-99092412	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs561366225	chr10:99092464-99092465	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs573655731	chr10:99092519-99092520	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs562636182	chr10:99092534-99092535	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs3740519	chr10:99092540-99092541	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs915196	chr10:99092586-99092587	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs202172728	chr10:99092604-99092605	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99081200-99092600	Weak transcription	Aorta	Aorta
2	chr10:99081800-99092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:99081800-99092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:99086800-99093200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
5	chr10:99088400-99093400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
6	chr10:99089000-99092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:99089200-99092400	Weak transcription	GM12878-XiMat	blood
8	chr10:99089400-99092000	Enhancers	Left Ventricle	heart
9	chr10:99089800-99092200	Enhancers	Gastric	stomach
10	chr10:99090000-99092000	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
11	chr10:99090000-99092400	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr10:99090600-99092600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:99090800-99092000	Enhancers	Spleen	Spleen
14	chr10:99090800-99092400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:99090800-99095000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr10:99091000-99092000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr10:99091000-99092200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
18	chr10:99091000-99092200	Enhancers	Brain Substantia Nigra	brain
19	chr10:99091000-99092200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr10:99091000-99092200	Flanking Active TSS	Hela-S3	cervix
21	chr10:99091000-99092400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr10:99091000-99092400	Enhancers	Dnd41	blood
23	chr10:99091000-99092600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr10:99091000-99092600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:99091000-99092600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr10:99091000-99092800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:99091000-99092800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:99091200-99092000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:99091200-99092000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr10:99091200-99092000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:99091200-99092000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:99091200-99092000	Flanking Active TSS	Liver	Liver
33	chr10:99091200-99092000	Genic enhancers	Esophagus	oesophagus
34	chr10:99091200-99092000	Enhancers	Placenta	Placenta
35	chr10:99091200-99092000	Enhancers	Psoas Muscle	Psoas
36	chr10:99091200-99092200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:99091200-99092200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:99091200-99092200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:99091200-99092200	Enhancers	Fetal Muscle Trunk	muscle
40	chr10:99091200-99092400	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:99091200-99092400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr10:99091200-99092400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr10:99091200-99093200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr10:99091200-99093600	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr10:99091200-99093800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr10:99091400-99092000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:99091400-99092000	Flanking Active TSS	Fetal Brain Female	brain
48	chr10:99091400-99092000	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr10:99091400-99092200	Enhancers	Fetal Lung	lung
50	chr10:99091400-99092200	Enhancers	Fetal Thymus	thymus

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