Variant report

Variant	rs201775274
Chromosome Location	chr13:52025263-52025264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr13:52025211-52025876	K562	blood:	n/a	n/a
2	POLR2A	chr13:52023042-52028956	GM12878	blood:	n/a	n/a
3	CHD1	chr13:52024742-52028646	IMR90	lung:	n/a	n/a
4	POLR2A	chr13:52025258-52028416	K562	blood:	n/a	n/a
5	POLR2A	chr13:52024109-52028486	GM18505	blood:	n/a	n/a
6	POLR2A	chr13:52025194-52025831	GM12891	blood:	n/a	n/a
7	POLR2A	chr13:52023653-52028418	HepG2	liver:	n/a	n/a
8	MTA3	chr13:52025208-52028795	GM12878	blood:	n/a	n/a
9	MAZ	chr13:52025242-52028542	IMR90	lung:	n/a	chr13:52027243-52027256 chr13:52027244-52027255 chr13:52027245-52027254 chr13:52027244-52027255 chr13:52027240-52027259
10	IRF1	chr13:52025252-52026232	K562	blood:	n/a	chr13:52025338-52025348 chr13:52025396-52025410 chr13:52025397-52025409 chr13:52025334-52025348
11	POLR2A	chr13:52024356-52028620	GM12878	blood:	n/a	n/a
12	POLR2A	chr13:52024960-52027314	K562	blood:	n/a	n/a
13	STAT5A	chr13:52025163-52025888	GM12878	blood:	n/a	n/a
14	POLR2A	chr13:52025232-52027326	GM12891	blood:	n/a	n/a
15	POLR2A	chr13:52024349-52028618	GM12878	blood:	n/a	n/a
16	POLR2A	chr13:52025199-52028610	GM12892	blood:	n/a	n/a
17	POLR2A	chr13:52025146-52028380	K562	blood:	n/a	n/a
18	POLR2A	chr13:52025131-52028505	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr13:52025187-52026383	SK-N-MC	brain:	n/a	n/a
20	MYC	chr13:52025189-52025831	MCF10A-Er-Src	breast:	n/a	n/a
21	MXI1	chr13:52024891-52028769	SK-N-SH	brain:	n/a	n/a
22	HCFC1	chr13:52025143-52028183	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr13:52022300-52029025	GM12878	blood:	n/a	n/a
24	POLR2A	chr13:52023377-52029022	IMR90	lung:	n/a	n/a
25	POLR2A	chr13:52025229-52029224	MCF10A-Er-Src	breast:	n/a	n/a
26	CEBPB	chr13:52025258-52025288	K562	blood:	n/a	n/a
27	POLR2A	chr13:52025200-52029013	K562	blood:	n/a	n/a
28	POLR2A	chr13:52025212-52028532	GM12892	blood:	n/a	n/a
29	POLR2A	chr13:52023273-52029011	GM12891	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52022728..52028464-chr13:52376436..52381467,17	K562	blood:
2	chr13:52023047..52029598-chr13:52376243..52380914,21	K562	blood:
3	chr13:52022475..52029228-chr13:52156654..52162250,29	K562	blood:
4	chr13:51933288..51938259-chr13:52024808..52026901,4	K562	blood:
5	chr13:52022170..52025698-chr13:52211557..52214174,3	MCF-7	breast:
6	chr13:52025248..52027565-chr13:52113097..52117557,5	K562	blood:
7	chr13:52024953..52028665-chr13:52311565..52316008,5	MCF-7	breast:
8	chr13:52025241..52027687-chr13:52171016..52174536,3	MCF-7	breast:
9	chr13:52024267..52031024-chr13:52038927..52044194,9	MCF-7	breast:
10	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
11	chr13:52023587..52026212-chr20:45985508..45987866,2	MCF-7	breast:
12	chr13:52022285..52029211-chr13:52148229..52167071,88	MCF-7	breast:
13	chr13:51994030..51996463-chr13:52024763..52027853,3	MCF-7	breast:
14	chr13:52025027..52027980-chr2:128047526..128049328,2	MCF-7	breast:
15	chr13:52024284..52029908-chr13:52069886..52073128,6	K562	blood:
16	chr13:52024964..52027210-chr3:57581929..57583601,2	MCF-7	breast:
17	chr13:52025248..52026911-chr13:52113097..52115719,3	K562	blood:
18	chr13:52025134..52027888-chr13:53029090..53030597,2	MCF-7	breast:
19	chr13:52023038..52025684-chr13:52169375..52171570,2	K562	blood:
20	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:
21	chr13:52022276..52028052-chr13:52350866..52359408,15	MCF-7	breast:
22	chr13:52023374..52025771-chr13:52171326..52173571,2	MCF-7	breast:
23	chr13:52024743..52028940-chr13:52112359..52118516,11	MCF-7	breast:
24	chr13:52024180..52026043-chr13:52139073..52141757,2	K562	blood:
25	chr13:52023359..52028039-chr13:52370142..52379804,19	MCF-7	breast:
26	chr13:52015950..52029988-chr13:52150583..52166755,85	MCF-7	breast:

No data

Variant related genes	Relation type
RPS4XP16	TF binding region
INTS6-AS1	TF binding region
ENSG00000102786	Chromatin interaction
ENSG00000252141	Chromatin interaction
ENSG00000224451	Chromatin interaction
ENSG00000229906	Chromatin interaction
ENSG00000168374	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000270101	Chromatin interaction
ENSG00000139668	Chromatin interaction
ENSG00000231856	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000136108	Chromatin interaction
ENSG00000163161	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000206920	Chromatin interaction
ENSG00000272146	Chromatin interaction
ENSG00000243900	Chromatin interaction
ENSG00000269965	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3421830	chr13:52024776-52027324	Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51992400-52025400	Weak transcription	Esophagus	oesophagus
2	chr13:51995600-52025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:52012200-52025400	Weak transcription	Left Ventricle	heart
4	chr13:52013600-52025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:52017000-52025400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:52019600-52025400	Weak transcription	Fetal Brain Male	brain
7	chr13:52023600-52025400	Weak transcription	Pancreas	Pancrea
8	chr13:52023800-52025400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:52023800-52025600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:52024200-52025600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr13:52024200-52025600	Enhancers	Fetal Heart	heart
12	chr13:52024400-52028200	Active TSS	Thymus	Thymus
13	chr13:52024600-52025400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
14	chr13:52024600-52025600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
15	chr13:52024600-52025600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr13:52024600-52025600	Transcr. at gene 5' and 3'	HepG2	liver
17	chr13:52024600-52025600	Transcr. at gene 5' and 3'	Osteobl	bone
18	chr13:52024800-52025400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
19	chr13:52024800-52025400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr13:52024800-52025400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:52024800-52025600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr13:52024800-52025600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr13:52024800-52025800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:52024800-52026600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:52024800-52027200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:52025000-52025400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:52025000-52025400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
28	chr13:52025000-52025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:52025000-52025400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:52025000-52025400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr13:52025000-52025400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:52025000-52025400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:52025000-52025400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr13:52025000-52025400	Enhancers	Fetal Stomach	stomach
35	chr13:52025000-52025400	Flanking Active TSS	NHEK	skin
36	chr13:52025000-52025600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:52025000-52025600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
38	chr13:52025000-52025600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
39	chr13:52025000-52025600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr13:52025000-52025600	Flanking Active TSS	Fetal Lung	lung
41	chr13:52025000-52025600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr13:52025000-52025600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr13:52025000-52025800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr13:52025000-52025800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr13:52025000-52025800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr13:52025000-52025800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:52025000-52025800	Active TSS	Right Atrium	heart
48	chr13:52025000-52028000	Active TSS	Hela-S3	cervix
49	chr13:52025000-52028000	Active TSS	HMEC	breast
50	chr13:52025000-52028200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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