Variant report

Variant	rs7320388
Chromosome Location	chr13:51796468-51796469
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	CTCF	chr13:51796380-51796530	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr13:51796242-51796613	GM19238	blood:	n/a	n/a
3	PAX5	chr13:51796139-51796683	GM12892	blood:	n/a	n/a
4	MYC	chr13:51795975-51796593	NB4	blood:	n/a	chr13:51796175-51796185
5	CTCF	chr13:51796358-51796560	GM19240	blood:	n/a	n/a
6	CTCF	chr13:51796400-51796550	AG04449	skin:	n/a	n/a
7	RAD21	chr13:51796343-51796592	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr13:51796136-51796677	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr13:51796440-51796590	GM12875	blood:	n/a	n/a
10	CTCF	chr13:51796420-51796570	GM12864	blood:	n/a	n/a
11	CTCF	chr13:51796420-51796570	K562	blood:	n/a	n/a
12	CTCF	chr13:51796368-51796579	GM10266	blood:	n/a	n/a
13	CTCF	chr13:51796400-51796550	GM12870	blood:	n/a	n/a
14	CTCF	chr13:51796380-51796530	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr13:51796203-51796573	Gliobla	brain:	n/a	n/a
16	MAZ	chr13:51796296-51796572	K562	blood:	n/a	n/a
17	TBP	chr13:51796459-51797038	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr13:51796353-51796592	MCF-7	breast:	n/a	n/a
19	RAD21	chr13:51796308-51796674	SK-N-SH_RA	brain:	n/a	n/a
20	MAZ	chr13:51796102-51796961	IMR90	lung:	n/a	chr13:51796175-51796185
21	CTCF	chr13:51796400-51796550	HMF	breast:	n/a	n/a
22	CTCF	chr13:51796387-51796560	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr13:51796380-51796530	Hela-S3	cervix:	n/a	n/a
24	ZNF263	chr13:51795947-51797402	HEK293-T-REx	kidney:	n/a	chr13:51796069-51796078 chr13:51797021-51797030 chr13:51796761-51796770
25	PAX5	chr13:51796252-51796585	GM12878	blood:	n/a	n/a
26	CREB1	chr13:51796185-51796795	A549	lung:	n/a	n/a
27	CTCF	chr13:51796380-51796530	WERI-Rb-1	eye:	n/a	n/a
28	POLR2A	chr13:51796121-51796709	A549	lung:	n/a	n/a
29	MYC	chr13:51796026-51796511	MCF-7	breast:	n/a	chr13:51796175-51796185
30	MAX	chr13:51795936-51796601	HCT-116	colon:	n/a	chr13:51796175-51796185
31	POLR2A	chr13:51796174-51796747	HEK293	kidney:	n/a	n/a
32	CTCF	chr13:51796169-51797100	MCF-7	breast:	n/a	chr13:51797054-51797072 chr13:51796882-51796891
33	CTCF	chr13:51796304-51796678	IMR90	lung:	n/a	n/a
34	NRF1	chr13:51795775-51796758	SK-N-SH	brain:	n/a	chr13:51796174-51796183
35	CTCF	chr13:51796420-51796570	GM06990	blood:	n/a	n/a
36	CTCF	chr13:51796398-51796588	T-47D	breast:	n/a	n/a
37	MAX	chr13:51795812-51796692	A549	lung:	n/a	chr13:51796175-51796185
38	CTCF	chr13:51796352-51796575	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr13:51796350-51796707	K562	blood:	n/a	n/a
40	CTCF	chr13:51796420-51796570	NHLF	lung:	n/a	n/a
41	SP4	chr13:51796416-51796656	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr13:51796440-51796590	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr13:51796382-51796569	GM10248	blood:	n/a	n/a
44	CTCF	chr13:51796380-51796530	AG09309	skin:	n/a	n/a
45	CTCF	chr13:51796340-51796490	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr13:51796440-51796590	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr13:51796367-51796597	HepG2	liver:	n/a	n/a
48	TAF1	chr13:51796412-51796750	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr13:51796295-51796700	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr13:51796361-51796595	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINE3-4	chr13:51795151-51798286	ncRnaDb_ncrna_FR376720_3

Variant related genes	Relation type
FAM124A	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3332869	chr13:51795701-51797799	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51795600-51797200	Active TSS	A549	lung
2	chr13:51795800-51796600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:51795800-51796800	Active TSS	Stomach Smooth Muscle	stomach
4	chr13:51795800-51796800	Bivalent/Poised TSS	NHEK	skin
5	chr13:51795800-51797000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:51795800-51797000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:51795800-51797000	Bivalent/Poised TSS	GM12878-XiMat	blood
8	chr13:51795800-51797200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:51795800-51797400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:51795800-51797400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr13:51795800-51797400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr13:51795800-51797400	Bivalent/Poised TSS	Thymus	Thymus
13	chr13:51795800-51797600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr13:51795800-51797600	Active TSS	Brain Anterior Caudate	brain
15	chr13:51795800-51797600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr13:51795800-51797800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr13:51795800-51797800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr13:51795800-51798000	Active TSS	Fetal Brain Female	brain
19	chr13:51795800-51798400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr13:51795800-51798600	Active TSS	Brain Cingulate Gyrus	brain
21	chr13:51795800-51798800	Active TSS	Brain Hippocampus Middle	brain
22	chr13:51795800-51799000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr13:51796000-51796800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:51796000-51796800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
25	chr13:51796000-51796800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:51796000-51796800	Active TSS	Placenta Amnion	Placenta Amnion
27	chr13:51796000-51797000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:51796000-51797000	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr13:51796000-51797000	Active TSS	Fetal Lung	lung
30	chr13:51796000-51797000	Active TSS	Lung	lung
31	chr13:51796000-51797200	Active TSS	Gastric	stomach
32	chr13:51796000-51797200	Bivalent/Poised TSS	HSMM	muscle
33	chr13:51796000-51797200	Bivalent/Poised TSS	NH-A	brain
34	chr13:51796000-51797400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:51796000-51797400	Active TSS	Aorta	Aorta
36	chr13:51796000-51797400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:51796000-51797400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr13:51796000-51797400	Active TSS	Fetal Kidney	kidney
39	chr13:51796000-51797800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:51796000-51797800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr13:51796000-51797800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr13:51796000-51797800	Active TSS	Left Ventricle	heart
43	chr13:51796000-51797800	Active TSS	Psoas Muscle	Psoas
44	chr13:51796000-51798000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:51796000-51798000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr13:51796000-51798000	Active TSS	Colon Smooth Muscle	Colon
47	chr13:51796000-51798000	Active TSS	Rectal Smooth Muscle	rectum
48	chr13:51796000-51798600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr13:51796000-51798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr13:51796000-51798800	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links