Variant report

Variant	rs182896046
Chromosome Location	chr10:99473361-99473362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99472861-99474882	MCF-7	breast:	n/a	n/a
2	YY1	chr10:99473138-99473679	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:99472884-99473639	HCT-116	colon:	n/a	n/a
4	GABPA	chr10:99473040-99473407	H1-hESC	embryonic stem cell:	n/a	chr10:99473155-99473164
5	POLR2A	chr10:99473058-99475334	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:99473078-99474878	GM18505	blood:	n/a	n/a
7	POLR2A	chr10:99472984-99475112	ProgFib	skin:	n/a	n/a
8	POLR2A	chr10:99473271-99474214	K562	blood:	n/a	n/a
9	POLR2A	chr10:99473161-99474873	HEK293	kidney:	n/a	n/a
10	SIN3AK20	chr10:99473120-99473462	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr10:99473092-99474975	SK-N-SH	brain:	n/a	n/a
12	MAX	chr10:99472582-99475098	HCT-116	colon:	n/a	n/a
13	SIN3AK20	chr10:99472978-99474860	PANC-1	pancreas:	n/a	n/a
14	MAX	chr10:99473310-99474905	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:99473033-99473569	SK-N-MC	brain:	n/a	n/a
16	CEBPB	chr10:99473135-99473367	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr10:99472608-99474975	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr10:99473050-99474816	Hela-S3	cervix:	n/a	n/a
19	TBP	chr10:99473318-99474212	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr10:99473065-99473623	Hela-S3	cervix:	n/a	n/a
21	E2F1	chr10:99473031-99474540	Hela-S3	cervix:	n/a	chr10:99473079-99473091
22	POLR2A	chr10:99473264-99474877	NB4	blood:	n/a	n/a
23	MAX	chr10:99472952-99474910	Hela-S3	cervix:	n/a	n/a
24	YY1	chr10:99472980-99473566	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:99473189-99474896	U87	brain:	n/a	n/a
26	E2F6	chr10:99472968-99473626	A549	lung:	n/a	chr10:99473079-99473091
27	HA-E2F1	chr10:99473021-99474637	Hela-S3	cervix:	n/a	chr10:99473079-99473091
28	MAX	chr10:99472699-99475009	A549	lung:	n/a	n/a
29	TAF1	chr10:99473088-99473577	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr10:99473117-99474478	GM15510	blood:	n/a	n/a
31	EGR1	chr10:99473198-99473789	K562	blood:	n/a	chr10:99473603-99473617
32	POLR2A	chr10:99473134-99474581	H1-neurons	neurons:	n/a	n/a
33	YY1	chr10:99473167-99474309	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr10:99473069-99474795	A549	lung:	n/a	n/a
35	POLR2A	chr10:99472988-99475081	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr10:99472732-99475279	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr10:99472978-99473604	PANC-1	pancreas:	n/a	n/a
38	MAX	chr10:99473052-99475143	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr10:99473189-99474887	U87	brain:	n/a	n/a
40	SMC3	chr10:99473190-99473510	Hela-S3	cervix:	n/a	n/a
41	TAF1	chr10:99473163-99473555	A549	lung:	n/a	n/a
42	POLR2A	chr10:99473001-99475185	Hela-S3	cervix:	n/a	n/a
43	MAX	chr10:99472992-99474892	A549	lung:	n/a	n/a
44	POLR2A	chr10:99472694-99475894	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr10:99473111-99475410	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr10:99472651-99475266	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr10:99472952-99475026	U87	brain:	n/a	n/a
48	POLR2A	chr10:99473053-99474523	A549	lung:	n/a	n/a
49	ZNF143	chr10:99473190-99473534	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr10:99472897-99474890	HCT-116	colon:	n/a	n/a

No data

(count:9 , 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	chr10:99472128..99477527-chr10:99495091..99498402,11	MCF-7	breast:
5	chr10:99442762..99448311-chr10:99470830..99475549,8	MCF-7	breast:
6	chr10:99257277..99258845-chr10:99472952..99474913,2	MCF-7	breast:
7	chr10:99473151..99473931-chr16:89557220..89557802,2	Hela-S3	cervix:
8	chr10:99444910..99448624-chr10:99472151..99475238,4	K562	blood:
9	chr10:99446266..99448824-chr10:99470047..99473651,4	K562	blood:

No data

Variant related genes	Relation type
MARVELD1	TF binding region
ENSG00000165886	Chromatin interaction
ENSG00000197912	Chromatin interaction
ENSG00000119986	Chromatin interaction
ENSG00000155256	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99472000-99473400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr10:99472000-99474800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr10:99472600-99473400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:99472600-99473400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:99472600-99473800	Enhancers	GM12878-XiMat	blood
6	chr10:99472600-99474600	Active TSS	Fetal Brain Female	brain
7	chr10:99472600-99474800	Active TSS	Fetal Lung	lung
8	chr10:99472600-99475000	Active TSS	Brain Angular Gyrus	brain
9	chr10:99472600-99475000	Active TSS	Fetal Kidney	kidney
10	chr10:99472800-99473400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:99472800-99473400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:99472800-99473400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:99472800-99473400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:99472800-99473400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:99472800-99473400	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr10:99472800-99473400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr10:99472800-99473400	Enhancers	Fetal Brain Male	brain
18	chr10:99472800-99473400	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr10:99472800-99473400	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr10:99472800-99473400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr10:99472800-99473400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr10:99472800-99473400	Flanking Active TSS	Dnd41	blood
23	chr10:99472800-99473400	Flanking Active TSS	HMEC	breast
24	chr10:99472800-99473400	Enhancers	K562	blood
25	chr10:99472800-99473400	Flanking Active TSS	NH-A	brain
26	chr10:99472800-99474000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr10:99472800-99474000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:99472800-99474200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:99472800-99474400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr10:99472800-99474400	Active TSS	Colonic Mucosa	Colon
31	chr10:99472800-99474800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:99472800-99474800	Active TSS	Brain Substantia Nigra	brain
33	chr10:99473000-99473400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr10:99473000-99473400	Enhancers	Primary B cells from cord blood	blood
35	chr10:99473000-99473400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr10:99473000-99473400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:99473000-99473400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr10:99473000-99473400	Flanking Active TSS	Placenta	Placenta
39	chr10:99473000-99473400	Flanking Active TSS	Left Ventricle	heart
40	chr10:99473000-99473400	Flanking Active TSS	Lung	lung
41	chr10:99473000-99473400	Flanking Active TSS	Pancreas	Pancrea
42	chr10:99473000-99473400	Flanking Active TSS	Right Ventricle	heart
43	chr10:99473000-99473400	Enhancers	Small Intestine	intestine
44	chr10:99473000-99473600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr10:99473000-99473800	Flanking Bivalent TSS/Enh	Thymus	Thymus
46	chr10:99473000-99474000	Transcr. at gene 5' and 3'	Right Atrium	heart
47	chr10:99473000-99474600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:99473000-99474600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr10:99473000-99474800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr10:99473000-99474800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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