Variant report

Variant	rs7330874
Chromosome Location	chr13:96330075-96330076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	ZMIZ1	chr13:96329994-96330095	K562	blood:	n/a	n/a
4	POLR2A	chr13:96328315-96330194	NB4	blood:	n/a	n/a
5	POLR2A	chr13:96330057-96330086	K562	blood:	n/a	n/a
6	POLR2A	chr13:96328269-96330465	GM12891	blood:	n/a	n/a
7	UBTF	chr13:96328690-96330213	K562	blood:	n/a	n/a
8	SIN3A	chr13:96330046-96330483	GM12878	blood:	n/a	n/a
9	MYC	chr13:96328275-96330568	NB4	blood:	n/a	chr13:96329358-96329368
10	RUNX3	chr13:96328348-96330569	GM12878	blood:	n/a	chr13:96330200-96330209 chr13:96330200-96330209
11	E2F6	chr13:96328396-96330211	K562	blood:	n/a	chr13:96329449-96329458 chr13:96329239-96329249 chr13:96329842-96329851
12	WRNIP1	chr13:96329952-96330401	GM12878	blood:	n/a	n/a
13	MXI1	chr13:96328302-96330598	GM12878	blood:	n/a	n/a
14	POLR2A	chr13:96330068-96330525	K562	blood:	n/a	n/a
15	MXI1	chr13:96328339-96330086	HepG2	liver:	n/a	n/a
16	SIN3A	chr13:96328335-96330554	H1-hESC	embryonic stem cell:	n/a	n/a
17	HA-E2F1	chr13:96328762-96330125	MCF-7	breast:	n/a	chr13:96329449-96329458 chr13:96329239-96329249 chr13:96329842-96329851
18	MAZ	chr13:96328849-96330630	GM12878	blood:	n/a	chr13:96329358-96329368
19	IKZF1	chr13:96330028-96330355	GM12878	blood:	n/a	n/a
20	MAX	chr13:96328728-96330148	H1-hESC	embryonic stem cell:	n/a	chr13:96329358-96329368
21	MAX	chr13:96328393-96330224	HCT-116	colon:	n/a	chr13:96329358-96329368
22	POLR2A	chr13:96328280-96330829	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:96328494-96330105	GM10847	blood:	n/a	n/a
24	CCNT2	chr13:96328855-96330324	K562	blood:	n/a	n/a
25	MXI1	chr13:96328260-96330830	IMR90	lung:	n/a	n/a
26	MAX	chr13:96329928-96330118	GM12878	blood:	n/a	n/a
27	POLR2A	chr13:96328188-96330165	GM19099	blood:	n/a	n/a
28	POLR2A	chr13:96328367-96330103	HL-60	blood:	n/a	n/a
29	CHD1	chr13:96329293-96330667	IMR90	lung:	n/a	n/a
30	POLR2A	chr13:96327481-96330995	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr13:96328364-96330260	GM19193	blood:	n/a	n/a
32	UBTF	chr13:96328270-96330553	K562	blood:	n/a	n/a
33	MAZ	chr13:96328362-96330954	IMR90	lung:	n/a	chr13:96329358-96329368
34	POLR2A	chr13:96328390-96330496	K562	blood:	n/a	n/a
35	POLR2A	chr13:96328279-96330392	HepG2	liver:	n/a	n/a
36	POLR2A	chr13:96328316-96330144	Raji	blood:	n/a	n/a
37	GTF2F1	chr13:96329919-96330575	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr13:96328039-96330618	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr13:96328551-96330137	K562	blood:	n/a	chr13:96329358-96329368
40	POLR2A	chr13:96328332-96330087	GM12878	blood:	n/a	n/a
41	POLR2A	chr13:96327079-96330590	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr13:96328252-96330600	Hela-S3	cervix:	n/a	chr13:96329358-96329368
43	POLR2A	chr13:96328415-96330091	GM18951	blood:	n/a	n/a
44	POLR2A	chr13:96329911-96330424	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr13:96328280-96330086	GM18505	blood:	n/a	n/a
46	MXI1	chr13:96328340-96330536	Hela-S3	cervix:	n/a	n/a
47	MYC	chr13:96328442-96330474	K562	blood:	n/a	chr13:96329358-96329368
48	MAX	chr13:96328300-96330660	NB4	blood:	n/a	chr13:96329358-96329368
49	RUNX3	chr13:96329892-96330530	GM12878	blood:	n/a	chr13:96330200-96330209 chr13:96330200-96330209
50	SMARCB1	chr13:96328136-96330326	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:96330052-96330102	NHBE	bronchial:	n/a
2	chr13:96330052-96330102	ProgFib	skin:	n/a
3	chr13:96330052-96330102	HRE	kidney:	n/a
4	chr13:96330052-96330102	CMK	blood:	n/a
5	chr13:96330052-96330102	PFSK-1	brain:	n/a
6	chr13:96330052-96330102	RPTEC	kidney:	n/a
7	chr13:96330052-96330102	BJ	skin:	n/a
8	chr13:96330052-96330102	ovcar-3	ovarian:	n/a
9	chr13:96330052-96330102	HRPEpiC	eye:	n/a
10	chr13:96330052-96330102	Caco-2	colon:	n/a
11	chr13:96330052-96330102	IMR90	lung:	fetal
12	chr13:96330052-96330102	HUVEC	blood vessel:	n/a
13	chr13:96330052-96330102	HPAEpiC	pulmonary alveolar:	n/a
14	chr13:96330052-96330102	NB4	blood:	n/a
15	chr13:96330052-96330102	HL-60	blood:	n/a
16	chr13:96330052-96330102	MCF10A-Er-Src	breast:	n/a
17	chr13:96330052-96330102	NT2-D1	testis:	n/a
18	chr13:96330052-96330102	AG09319	gingival:	n/a
19	chr13:96330052-96330102	BE2_C	brain:	n/a
20	chr13:96330052-96330102	HIPEpiC	eye:	n/a
21	chr13:96330052-96330102	MCF-7	breast:	n/a
22	chr13:96330052-96330102	AG04449	skin:	fetal
23	chr13:96330052-96330102	AG10803	skin:	n/a
24	chr13:96330052-96330102	NHDF-neo	bronchial:	n/a
25	chr13:96330052-96330102	K562	blood:	n/a
26	chr13:96330052-96330102	GM12891	blood:	n/a
27	chr13:96330052-96330102	SK-N-SH_RA	brain:	n/a
28	chr13:96330052-96330102	HCM	heart:	n/a
29	chr13:96330052-96330102	GM19239	blood:	n/a
30	chr13:96330052-96330102	HCPEpiC	choroid plexus:	n/a
31	chr13:96330052-96330102	A549	lung:	n/a
32	chr13:96330052-96330102	H1-hESC	embryonic stem cell:	embryo
33	chr13:96330052-96330102	PrEC	prostate:	n/a
34	chr13:96330052-96330102	GM12892	blood:	n/a
35	chr13:96330052-96330102	U87	brain:	n/a
36	chr13:96330052-96330102	Hela-S3	cervix:	n/a
37	chr13:96330052-96330102	HEEpiC	esophagus:	n/a
38	chr13:96330052-96330102	Hepatocyte	liver:	n/a
39	chr13:96330052-96330102	AG09309	skin:	n/a
40	chr13:96330052-96330102	HCT-116	colon:	n/a
41	chr13:96330052-96330102	HAEpiC	amniotic membrane:	n/a
42	chr13:96330052-96330102	HMEC	breast:	n/a
43	chr13:96330052-96330102	T-47D	breast:	n/a
44	chr13:96330052-96330102	GM12878	blood:	n/a
45	chr13:96330052-96330102	GM06990	blood:	n/a
46	chr13:96330052-96330102	HepG2	liver:	n/a
47	chr13:96330052-96330102	HRCEpiC	kidney:	n/a
48	chr13:96330052-96330102	Jurkat	blood:	n/a
49	chr13:96330052-96330102	SKMC	muscle:	n/a
50	chr13:96330052-96330102	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr13:96329213..96330784-chr13:96346091..96348298,2	MCF-7	breast:
2	chr13:96327826..96331109-chr13:96365382..96368282,3	MCF-7	breast:
3	chr13:96327692..96330287-chr13:96346205..96350903,4	K562	blood:

No data

Variant related genes	Relation type
DNAJC3-AS1	TF binding region
DNAJC3-AS1	CpG island
ENSG00000227714	Chromatin interaction
ENSG00000251901	Chromatin interaction
ENSG00000232373	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34152079	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55742846	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6492818	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	chr13:96327600-96330400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr13:96327600-96330600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:96327600-96330800	Active TSS	Fetal Intestine Small	intestine
11	chr13:96327600-96331000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:96327600-96331000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:96327600-96331000	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr13:96327600-96331000	Active TSS	HMEC	breast
15	chr13:96327600-96331200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr13:96327600-96331400	Active TSS	Right Ventricle	heart
17	chr13:96327800-96331000	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr13:96328000-96330200	Active TSS	Brain Anterior Caudate	brain
19	chr13:96328000-96330200	Active TSS	Fetal Brain Female	brain
20	chr13:96328000-96330400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:96328000-96330600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr13:96328000-96330600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:96328000-96330600	Active TSS	Psoas Muscle	Psoas
24	chr13:96328000-96330600	Active TSS	Stomach Smooth Muscle	stomach
25	chr13:96328000-96330800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr13:96328000-96330800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr13:96328000-96330800	Active TSS	NHEK	skin
28	chr13:96328000-96331000	Active TSS	Colon Smooth Muscle	Colon
29	chr13:96328000-96331000	Active TSS	A549	lung
30	chr13:96328000-96331000	Active TSS	Hela-S3	cervix
31	chr13:96328000-96331000	Active TSS	HSMMtube	muscle
32	chr13:96328000-96331200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:96328000-96331200	Active TSS	Colonic Mucosa	Colon
34	chr13:96328000-96331200	Active TSS	Ovary	ovary
35	chr13:96328000-96332000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr13:96328200-96330200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:96328200-96330200	Active TSS	Thymus	Thymus
38	chr13:96328200-96330400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:96328200-96330400	Active TSS	Liver	Liver
40	chr13:96328200-96330600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:96328200-96330600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:96328200-96330600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr13:96328200-96330600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:96328200-96330600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:96328200-96330600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr13:96328200-96330600	Active TSS	Stomach Mucosa	stomach
47	chr13:96328200-96330800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:96328200-96330800	Active TSS	Fetal Stomach	stomach
49	chr13:96328200-96331000	Active TSS	Brain Substantia Nigra	brain
50	chr13:96328200-96331000	Active TSS	NHLF	lung

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