Variant report

Variant	rs540222327
Chromosome Location	chr13:96328908-96328909
allele	A/G
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	POLR2A	chr13:96328335-96330029	GM18526	blood:	n/a	n/a
2	REST	chr13:96328754-96329704	H1-neurons	neurons:	n/a	chr13:96329358-96329371
3	SPI1	chr13:96328874-96329859	HL-60	blood:	n/a	chr13:96329375-96329382
4	POLR2A	chr13:96328328-96329699	GM12878	blood:	n/a	n/a
5	POLR2A	chr13:96328334-96329690	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr13:96328771-96329503	K562	blood:	n/a	n/a
7	POU2F2	chr13:96328807-96329739	GM12878	blood:	n/a	chr13:96329362-96329374
8	MXI1	chr13:96328102-96331205	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr13:96327871-96330548	PBDE	blood:	n/a	n/a
10	SP1	chr13:96328788-96329617	A549	lung:	n/a	chr13:96329232-96329243 chr13:96329358-96329368 chr13:96329234-96329243 chr13:96329358-96329367 chr13:96329234-96329243 chr13:96329232-96329244 chr13:96329358-96329368 chr13:96329232-96329244 chr13:96329359-96329368 chr13:96329229-96329243 chr13:96329357-96329369 chr13:96329357-96329369 chr13:96329233-96329242
11	POLR2A	chr13:96328287-96330029	K562	blood:	n/a	n/a
12	MAX	chr13:96328443-96329873	HCT-116	colon:	n/a	chr13:96329358-96329368
13	BACH1	chr13:96328366-96329095	H1-hESC	embryonic stem cell:	n/a	n/a
14	MTA3	chr13:96328238-96329177	GM12878	blood:	n/a	n/a
15	CREB1	chr13:96328202-96329895	HepG2	liver:	n/a	n/a
16	POLR2A	chr13:96328065-96329699	K562	blood:	n/a	n/a
17	POLR2A	chr13:96328855-96329648	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr13:96328315-96330194	NB4	blood:	n/a	n/a
19	IRF1	chr13:96328182-96329594	K562	blood:	n/a	chr13:96329355-96329369 chr13:96329232-96329246
20	E2F6	chr13:96328742-96329740	A549	lung:	n/a	chr13:96329449-96329458 chr13:96329239-96329249
21	MAFK	chr13:96328802-96329116	HepG2	liver:	n/a	n/a
22	REST	chr13:96328205-96329839	HL-60	blood:	n/a	chr13:96329792-96329805 chr13:96329358-96329371
23	POLR2A	chr13:96328823-96329864	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr13:96328695-96329808	MCF-7	breast:	n/a	n/a
25	ZKSCAN1	chr13:96328372-96329916	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr13:96327780-96329630	K562	blood:	n/a	n/a
27	POLR2A	chr13:96328269-96330465	GM12891	blood:	n/a	n/a
28	CHD2	chr13:96328430-96329733	GM12878	blood:	n/a	chr13:96329234-96329244
29	WRNIP1	chr13:96328365-96329089	GM12878	blood:	n/a	n/a
30	POLR2A	chr13:96328328-96329653	K562	blood:	n/a	n/a
31	IRF1	chr13:96328759-96329636	K562	blood:	n/a	chr13:96329355-96329369 chr13:96329615-96329624 chr13:96329232-96329246
32	RELA	chr13:96328398-96329610	GM19099	blood:	n/a	n/a
33	RCOR1	chr13:96328716-96329519	K562	blood:	n/a	n/a
34	UBTF	chr13:96328690-96330213	K562	blood:	n/a	n/a
35	CTCF	chr13:96328740-96329030	HRE	kidney:	n/a	n/a
36	POLR2A	chr13:96328734-96329963	MCF-7	breast:	n/a	n/a
37	TAL1	chr13:96328366-96329217	K562	blood:	n/a	n/a
38	REST	chr13:96328809-96329676	HepG2	liver:	n/a	chr13:96329358-96329371
39	POLR2A	chr13:96328408-96329267	HepG2	liver:	n/a	n/a
40	CTCF	chr13:96328802-96328923	K562	blood:	n/a	n/a
41	BCLAF1	chr13:96328727-96329765	GM12878	blood:	n/a	chr13:96329241-96329254 chr13:96329237-96329250 chr13:96329321-96329334 chr13:96329326-96329335 chr13:96329424-96329437 chr13:96329239-96329248 chr13:96329712-96329725 chr13:96329186-96329199
42	KAP1	chr13:96328402-96329102	U2OS	brain:	n/a	n/a
43	TAF7	chr13:96328631-96329729	H1-hESC	embryonic stem cell:	n/a	n/a
44	ELK1	chr13:96328902-96329201	GM12878	blood:	n/a	n/a
45	MYC	chr13:96328275-96330568	NB4	blood:	n/a	chr13:96329358-96329368
46	POLR2A	chr13:96328740-96329823	HUVEC	blood vessel:	n/a	n/a
47	ARID3A	chr13:96328413-96329579	HepG2	liver:	n/a	n/a
48	POLR2A	chr13:96328789-96329699	A549	lung:	n/a	n/a
49	RUNX3	chr13:96328348-96330569	GM12878	blood:	n/a	chr13:96330200-96330209 chr13:96330200-96330209
50	POLR2A	chr13:96328340-96329714	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:96328888-96328938	GM12892	blood:	n/a
2	chr13:96328888-96328938	AG04450	lung:	fetal
3	chr13:96328888-96328938	HCT-116	colon:	n/a
4	chr13:96328888-96328938	AG09319	gingival:	n/a
5	chr13:96328888-96328938	RPTEC	kidney:	n/a
6	chr13:96328888-96328938	Jurkat	blood:	n/a
7	chr13:96328888-96328938	SKMC	muscle:	n/a
8	chr13:96328888-96328938	HL-60	blood:	n/a
9	chr13:96328888-96328938	CMK	blood:	n/a
10	chr13:96328888-96328938	HRCEpiC	kidney:	n/a
11	chr13:96328888-96328938	HMEC	breast:	n/a
12	chr13:96328888-96328938	PANC-1	pancreas:	n/a
13	chr13:96328888-96328938	HUVEC	blood vessel:	n/a
14	chr13:96328888-96328938	HRE	kidney:	n/a
15	chr13:96328888-96328938	GM12878	blood:	n/a
16	chr13:96328888-96328938	BJ	skin:	n/a
17	chr13:96328888-96328938	AG09309	skin:	n/a
18	chr13:96328888-96328938	PFSK-1	brain:	n/a
19	chr13:96328888-96328938	IMR90	lung:	fetal
20	chr13:96328888-96328938	A549	lung:	n/a
21	chr13:96328888-96328938	ovcar-3	ovarian:	n/a
22	chr13:96328888-96328938	NT2-D1	testis:	n/a
23	chr13:96328888-96328938	H1-hESC	embryonic stem cell:	embryo
24	chr13:96328888-96328938	SK-N-MC	brain:	n/a
25	chr13:96328888-96328938	NHBE	bronchial:	n/a
26	chr13:96328888-96328938	NHDF-neo	bronchial:	n/a
27	chr13:96328888-96328938	HAEpiC	amniotic membrane:	n/a
28	chr13:96328888-96328938	SK-N-SH_RA	brain:	n/a
29	chr13:96328888-96328938	PrEC	prostate:	n/a
30	chr13:96328888-96328938	U87	brain:	n/a
31	chr13:96328888-96328938	HEK293	kidney:	embryo
32	chr13:96328888-96328938	HCM	heart:	n/a
33	chr13:96328888-96328938	GM12891	blood:	n/a
34	chr13:96328888-96328938	Hepatocyte	liver:	n/a
35	chr13:96328888-96328938	GM19239	blood:	n/a
36	chr13:96328888-96328938	AoSMC	blood vessel:	n/a
37	chr13:96328888-96328938	AG04449	skin:	fetal
38	chr13:96328888-96328938	GM06990	blood:	n/a
39	chr13:96328888-96328938	HepG2	liver:	n/a
40	chr13:96328888-96328938	HNPCEpiC	eye:	n/a
41	chr13:96328888-96328938	MCF10A-Er-Src	breast:	n/a
42	chr13:96328888-96328938	NH-A	brain:	n/a
43	chr13:96328888-96328938	HCF	heart:	n/a
44	chr13:96328888-96328938	NB4	blood:	n/a
45	chr13:96328888-96328938	BE2_C	brain:	n/a
46	chr13:96328888-96328938	Caco-2	colon:	n/a
47	chr13:96328888-96328938	SAEC	small airway:	n/a
48	chr13:96328888-96328938	AG10803	skin:	n/a
49	chr13:96328888-96328938	MCF-7	breast:	n/a
50	chr13:96328888-96328938	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65190165..65191035-chr13:96328786..96329458,2	Hela-S3	cervix:
2	chr13:96328115..96328997-chr3:49058919..49059437,2	Hela-S3	cervix:
3	chr13:96328903..96329487-chr15:42565285..42566134,2	Hela-S3	cervix:
4	chr13:96328782..96329500-chr7:138793896..138794495,2	Hela-S3	cervix:
5	chr13:96328593..96329106-chr6:36561666..36562621,2	Hela-S3	cervix:
6	chr13:96327826..96331109-chr13:96365382..96368282,3	MCF-7	breast:
7	chr13:96328671..96329561-chr2:64680996..64681548,2	Hela-S3	cervix:
8	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
3	lnc-DZIP1-1	chr13:96328750-96329048	ENSG00000247400.3

Variant related genes	Relation type
DNAJC3	TF binding region
DNAJC3	CpG island
ENSG00000112081	Chromatin interaction
ENSG00000119862	Chromatin interaction
ENSG00000232373	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000251901	Chromatin interaction
ENSG00000105939	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000227714	Chromatin interaction
ENSG00000245532	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96325600-96332400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:96327000-96330600	Active TSS	Duodenum Mucosa	Duodenum
3	chr13:96327000-96330800	Active TSS	Fetal Intestine Large	intestine
4	chr13:96327000-96331000	Active TSS	K562	blood
5	chr13:96327000-96331800	Active TSS	GM12878-XiMat	blood
6	chr13:96327200-96331000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr13:96327400-96331000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:96327600-96329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:96327600-96329000	Active TSS	Right Atrium	heart
10	chr13:96327600-96329400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:96327600-96330000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr13:96327600-96330400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr13:96327600-96330600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:96327600-96330800	Active TSS	Fetal Intestine Small	intestine
15	chr13:96327600-96331000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:96327600-96331000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:96327600-96331000	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr13:96327600-96331000	Active TSS	HMEC	breast
19	chr13:96327600-96331200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr13:96327600-96331400	Active TSS	Right Ventricle	heart
21	chr13:96327800-96329000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:96327800-96329000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr13:96327800-96329000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr13:96327800-96329400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:96327800-96331000	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr13:96328000-96329000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr13:96328000-96329000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr13:96328000-96329000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr13:96328000-96329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:96328000-96330200	Active TSS	Brain Anterior Caudate	brain
31	chr13:96328000-96330200	Active TSS	Fetal Brain Female	brain
32	chr13:96328000-96330400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:96328000-96330600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr13:96328000-96330600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr13:96328000-96330600	Active TSS	Psoas Muscle	Psoas
36	chr13:96328000-96330600	Active TSS	Stomach Smooth Muscle	stomach
37	chr13:96328000-96330800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr13:96328000-96330800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr13:96328000-96330800	Active TSS	NHEK	skin
40	chr13:96328000-96331000	Active TSS	Colon Smooth Muscle	Colon
41	chr13:96328000-96331000	Active TSS	A549	lung
42	chr13:96328000-96331000	Active TSS	Hela-S3	cervix
43	chr13:96328000-96331000	Active TSS	HSMMtube	muscle
44	chr13:96328000-96331200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:96328000-96331200	Active TSS	Colonic Mucosa	Colon
46	chr13:96328000-96331200	Active TSS	Ovary	ovary
47	chr13:96328000-96332000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr13:96328200-96329000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr13:96328200-96329000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr13:96328200-96329400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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