Variant report

Variant	rs555850463
Chromosome Location	chr10:99474112-99474113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr10:99473736-99474190	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:99473744-99474129	GM12891	blood:	n/a	n/a
3	POLR2A	chr10:99472861-99474882	MCF-7	breast:	n/a	n/a
4	POLR2A	chr10:99473664-99474129	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:99473058-99475334	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr10:99474020-99474170	HRPEpiC	eye:	n/a	n/a
7	SP1	chr10:99473684-99474263	A549	lung:	n/a	n/a
8	CCNT2	chr10:99473507-99474389	K562	blood:	n/a	n/a
9	E2F6	chr10:99473529-99474893	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr10:99473785-99474114	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr10:99473820-99474200	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:99473078-99474878	GM18505	blood:	n/a	n/a
13	POLR2A	chr10:99472984-99475112	ProgFib	skin:	n/a	n/a
14	POLR2A	chr10:99473271-99474214	K562	blood:	n/a	n/a
15	ZKSCAN1	chr10:99473775-99474239	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:99473161-99474873	HEK293	kidney:	n/a	n/a
17	SMC3	chr10:99473805-99475107	Hela-S3	cervix:	n/a	n/a
18	MAX	chr10:99473092-99474975	SK-N-SH	brain:	n/a	n/a
19	MAX	chr10:99472582-99475098	HCT-116	colon:	n/a	n/a
20	MTA3	chr10:99473729-99474112	GM12878	blood:	n/a	n/a
21	YY1	chr10:99473807-99474141	GM12891	blood:	n/a	n/a
22	MAZ	chr10:99473659-99474172	GM12878	blood:	n/a	n/a
23	MAX	chr10:99473648-99474462	A549	lung:	n/a	n/a
24	CHD1	chr10:99473425-99475908	IMR90	lung:	n/a	n/a
25	E2F6	chr10:99473393-99474572	K562	blood:	n/a	n/a
26	HA-E2F1	chr10:99473680-99474836	MCF-7	breast:	n/a	n/a
27	MAX	chr10:99473539-99474117	K562	blood:	n/a	n/a
28	TCF7L2	chr10:99473437-99474954	HCT-116	colon:	n/a	n/a
29	POLR2A	chr10:99473574-99474479	GM12878	blood:	n/a	n/a
30	YY1	chr10:99473431-99474255	ECC-1	luminal epithelium:	n/a	n/a
31	SIN3AK20	chr10:99472978-99474860	PANC-1	pancreas:	n/a	n/a
32	MAX	chr10:99473310-99474905	MCF-7	breast:	n/a	n/a
33	MYC	chr10:99473436-99474841	MCF10A-Er-Src	breast:	n/a	n/a
34	MXI1	chr10:99472608-99474975	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr10:99473050-99474816	Hela-S3	cervix:	n/a	n/a
36	TAF1	chr10:99473666-99474858	MCF-7	breast:	n/a	n/a
37	USF1	chr10:99473651-99474216	ECC-1	luminal epithelium:	n/a	n/a
38	HCFC1	chr10:99473840-99474144	K562	blood:	n/a	n/a
39	MYC	chr10:99473889-99474218	MCF10A-Er-Src	breast:	n/a	n/a
40	TBP	chr10:99473318-99474212	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr10:99473747-99474705	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr10:99473613-99474532	GM12878	blood:	n/a	n/a
43	RELA	chr10:99473825-99474407	GM19193	blood:	n/a	n/a
44	SP1	chr10:99473675-99474661	A549	lung:	n/a	n/a
45	E2F1	chr10:99473031-99474540	Hela-S3	cervix:	n/a	chr10:99473079-99473091
46	TCF12	chr10:99473459-99474552	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr10:99473264-99474877	NB4	blood:	n/a	n/a
48	MAX	chr10:99472952-99474910	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr10:99473189-99474896	U87	brain:	n/a	n/a
50	HDAC2	chr10:99473745-99474532	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99471547..99474270-chr10:99495747..99497533,2	K562	blood:
2	chr10:99472472..99476089-chr10:99494153..99498366,9	MCF-7	breast:
3	chr10:99443080..99453237-chr10:99471420..99478243,12	MCF-7	breast:
4	chr1:145382276..145382904-chr10:99474045..99474834,2	Hela-S3	cervix:
5	chr10:99472128..99477527-chr10:99495091..99498402,11	MCF-7	breast:
6	chr10:99442762..99448311-chr10:99470830..99475549,8	MCF-7	breast:
7	chr10:99473490..99474131-chr17:41444618..41445483,3	Hela-S3	cervix:
8	chr1:40974148..40974666-chr10:99473878..99474717,2	Hela-S3	cervix:
9	chr10:99257277..99258845-chr10:99472952..99474913,2	MCF-7	breast:
10	chr10:99444910..99448624-chr10:99472151..99475238,4	K562	blood:

No data

Variant related genes	Relation type
MARVELD1	TF binding region
ENSG00000119986	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000164002	Chromatin interaction
ENSG00000238287	Chromatin interaction
ENSG00000155256	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000155229	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer 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	66 gene(s)	inside rSNPs	diseases
2	esv3438921	chr10:99472487-99475335	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99472000-99474800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr10:99472600-99474600	Active TSS	Fetal Brain Female	brain
3	chr10:99472600-99474800	Active TSS	Fetal Lung	lung
4	chr10:99472600-99475000	Active TSS	Brain Angular Gyrus	brain
5	chr10:99472600-99475000	Active TSS	Fetal Kidney	kidney
6	chr10:99472800-99474200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:99472800-99474400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr10:99472800-99474400	Active TSS	Colonic Mucosa	Colon
9	chr10:99472800-99474800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:99472800-99474800	Active TSS	Brain Substantia Nigra	brain
11	chr10:99473000-99474600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:99473000-99474600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr10:99473000-99474800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:99473000-99474800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:99473000-99474800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr10:99473000-99474800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:99473000-99474800	Active TSS	Brain Anterior Caudate	brain
18	chr10:99473000-99474800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr10:99473000-99474800	Active TSS	Ovary	ovary
20	chr10:99473000-99474800	Active TSS	HSMM	muscle
21	chr10:99473000-99474800	Active TSS	NHLF	lung
22	chr10:99473000-99474800	Active TSS	Osteobl	bone
23	chr10:99473000-99475000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:99473000-99475000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:99473000-99475000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr10:99473000-99475000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr10:99473000-99475000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:99473000-99475000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr10:99473000-99475000	Active TSS	Colon Smooth Muscle	Colon
30	chr10:99473000-99475000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr10:99473000-99475200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr10:99473000-99475200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr10:99473000-99475200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:99473000-99475200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:99473000-99475200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr10:99473000-99475400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr10:99473000-99475400	Active TSS	Psoas Muscle	Psoas
38	chr10:99473000-99475400	Active TSS	NHDF-Ad	bronchial
39	chr10:99473000-99475600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:99473000-99475800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr10:99473000-99476200	Active TSS	Aorta	Aorta
42	chr10:99473200-99474200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr10:99473200-99474400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr10:99473200-99474400	Active TSS	Brain Cingulate Gyrus	brain
45	chr10:99473200-99474400	Bivalent/Poised TSS	Fetal Thymus	thymus
46	chr10:99473200-99474400	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr10:99473200-99474600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:99473200-99474600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:99473200-99474600	Active TSS	Duodenum Mucosa	Duodenum
50	chr10:99473200-99474600	Active TSS	Fetal Intestine Large	intestine

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