Variant report

Variant	rs550724162
Chromosome Location	chr13:96328253-96328254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr13:96328102-96331205	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr13:96327871-96330548	PBDE	blood:	n/a	n/a
3	MTA3	chr13:96328238-96329177	GM12878	blood:	n/a	n/a
4	CREB1	chr13:96328202-96329895	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:96328065-96329699	K562	blood:	n/a	n/a
6	IRF1	chr13:96328182-96329594	K562	blood:	n/a	chr13:96329355-96329369 chr13:96329232-96329246
7	MYC	chr13:96327966-96328748	MCF10A-Er-Src	breast:	n/a	n/a
8	REST	chr13:96328205-96329839	HL-60	blood:	n/a	chr13:96329792-96329805 chr13:96329358-96329371
9	POLR2A	chr13:96327780-96329630	K562	blood:	n/a	n/a
10	NFIC	chr13:96328245-96329612	GM12878	blood:	n/a	n/a
11	SPI1	chr13:96328125-96328873	HL-60	blood:	n/a	n/a
12	POLR2A	chr13:96328090-96329690	HepG2	liver:	n/a	n/a
13	CEBPB	chr13:96328008-96329538	Hela-S3	cervix:	n/a	n/a
14	RUNX3	chr13:96328218-96329736	GM12878	blood:	n/a	n/a
15	MYC	chr13:96328113-96329834	K562	blood:	n/a	chr13:96329358-96329368
16	MAX	chr13:96328224-96329901	HepG2	liver:	n/a	chr13:96329358-96329368
17	PML	chr13:96328216-96328720	K562	blood:	n/a	n/a
18	MTA3	chr13:96328215-96329756	GM12878	blood:	n/a	n/a
19	POLR2A	chr13:96328154-96329939	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr13:96328185-96329982	HL-60	blood:	n/a	n/a
21	POLR2A	chr13:96328188-96330165	GM19099	blood:	n/a	n/a
22	BRCA1	chr13:96327371-96329644	Hela-S3	cervix:	n/a	n/a
23	ZNF384	chr13:96328208-96329194	K562	blood:	n/a	n/a
24	POLR2A	chr13:96327481-96330995	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr13:96328227-96329801	HUVEC	blood vessel:	n/a	n/a
26	FOS	chr13:96328248-96328549	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr13:96328038-96328671	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr13:96327731-96328342	MCF10A-Er-Src	breast:	n/a	chr13:96327935-96327943
29	GATA1	chr13:96327790-96329899	PBDE	blood:	n/a	n/a
30	USF2	chr13:96328121-96328918	Hela-S3	cervix:	n/a	n/a
31	RFX5	chr13:96328069-96329859	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr13:96328039-96330618	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr13:96327989-96329049	MCF10A-Er-Src	breast:	n/a	n/a
34	SPI1	chr13:96328190-96328675	HL-60	blood:	n/a	n/a
35	POLR2A	chr13:96327079-96330590	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr13:96328110-96329620	MCF10A-Er-Src	breast:	n/a	chr13:96329449-96329458 chr13:96329239-96329249
37	MAX	chr13:96328252-96330600	Hela-S3	cervix:	n/a	chr13:96329358-96329368
38	TBP	chr13:96328246-96329629	GM12878	blood:	n/a	n/a
39	TBP	chr13:96328019-96329488	Hela-S3	cervix:	n/a	n/a
40	SMARCB1	chr13:96328136-96330326	Hela-S3	cervix:	n/a	n/a
41	CHD1	chr13:96328199-96329815	GM12878	blood:	n/a	chr13:96329234-96329244

No.	Distal block	Cell Line	Cell type
1	chr13:96328115..96328997-chr3:49058919..49059437,2	Hela-S3	cervix:
2	chr13:96324907..96328412-chr13:96405169..96408703,4	K562	blood:
3	chr13:96327826..96331109-chr13:96365382..96368282,3	MCF-7	breast:
4	chr13:96327692..96330287-chr13:96346205..96350903,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DZIP1-1	chr13:96328106-96329179	XLOC_010698
2	lnc-DZIP1-1	chr13:96325124-96329183	NONHSAT034769

Variant related genes	Relation type
DNAJC3	TF binding region
ENSG00000227714	Chromatin interaction
ENSG00000251901	Chromatin interaction
ENSG00000232373	Chromatin interaction
ENSG00000178057	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	esv3406527	chr13:96328176-96330724	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96323000-96328400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:96324400-96328400	Weak transcription	Esophagus	oesophagus
3	chr13:96324400-96328400	Weak transcription	Lung	lung
4	chr13:96325600-96332400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:96326800-96328400	Weak transcription	Gastric	stomach
6	chr13:96327000-96330600	Active TSS	Duodenum Mucosa	Duodenum
7	chr13:96327000-96330800	Active TSS	Fetal Intestine Large	intestine
8	chr13:96327000-96331000	Active TSS	K562	blood
9	chr13:96327000-96331800	Active TSS	GM12878-XiMat	blood
10	chr13:96327200-96331000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr13:96327400-96331000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr13:96327600-96328400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr13:96327600-96328600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:96327600-96328600	Flanking Active TSS	Dnd41	blood
15	chr13:96327600-96329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:96327600-96329000	Active TSS	Right Atrium	heart
17	chr13:96327600-96329400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:96327600-96330000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr13:96327600-96330400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr13:96327600-96330600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:96327600-96330800	Active TSS	Fetal Intestine Small	intestine
22	chr13:96327600-96331000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:96327600-96331000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:96327600-96331000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr13:96327600-96331000	Active TSS	HMEC	breast
26	chr13:96327600-96331200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr13:96327600-96331400	Active TSS	Right Ventricle	heart
28	chr13:96327800-96328400	Active TSS	HepG2	liver
29	chr13:96327800-96328600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr13:96327800-96328600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr13:96327800-96328600	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr13:96327800-96328600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr13:96327800-96328600	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr13:96327800-96328600	Flanking Active TSS	HUVEC	blood vessel
35	chr13:96327800-96329000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:96327800-96329000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr13:96327800-96329000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr13:96327800-96329400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:96327800-96331000	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr13:96328000-96328400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:96328000-96328400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:96328000-96328400	Active TSS	Primary T cells fromperipheralblood	blood
43	chr13:96328000-96328400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:96328000-96328400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr13:96328000-96328400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr13:96328000-96328400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr13:96328000-96328400	Active TSS	Fetal Muscle Leg	muscle
48	chr13:96328000-96328400	Weak transcription	Small Intestine	intestine
49	chr13:96328000-96328400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr13:96328000-96328600	Flanking Active TSS	Adipose Nuclei	Adipose

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