Variant report

Variant	rs546632514
Chromosome Location	chr13:96742080-96742081
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr13:96741744-96742420	HEK293	kidney:	n/a	n/a
2	POLR2A	chr13:96742050-96742667	MCF-7	breast:	n/a	n/a
3	RAD21	chr13:96741992-96742438	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr13:96742048-96743208	H1-hESC	embryonic stem cell:	n/a	chr13:96742718-96742729
5	ZNF263	chr13:96741220-96743141	HEK293-T-REx	kidney:	n/a	chr13:96742265-96742274 chr13:96742224-96742245
6	POLR2A	chr13:96741910-96742583	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr13:96742047-96742707	MCF-7	breast:	n/a	n/a
8	POLR2A	chr13:96742031-96744213	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:96742056-96742106	HCM	heart:	n/a
2	chr13:96742056-96742106	AG04449	skin:	fetal
3	chr13:96742056-96742106	PFSK-1	brain:	n/a
4	chr13:96742056-96742106	SK-N-SH_RA	brain:	n/a
5	chr13:96742056-96742106	AoSMC	blood vessel:	n/a
6	chr13:96742056-96742106	SK-N-SH	brain:	n/a
7	chr13:96742056-96742106	HEEpiC	esophagus:	n/a
8	chr13:96742056-96742106	NT2-D1	testis:	n/a
9	chr13:96742056-96742106	AG10803	skin:	n/a
10	chr13:96742056-96742106	BJ	skin:	n/a
11	chr13:96742056-96742106	ProgFib	skin:	n/a
12	chr13:96742056-96742106	U87	brain:	n/a
13	chr13:96742056-96742106	BE2_C	brain:	n/a
14	chr13:96742056-96742106	H1-hESC	embryonic stem cell:	embryo
15	chr13:96742056-96742106	NHBE	bronchial:	n/a
16	chr13:96742056-96742106	NH-A	brain:	n/a
17	chr13:96742056-96742106	GM12878	blood:	n/a
18	chr13:96742056-96742106	LNCaP	prostate:	n/a
19	chr13:96742056-96742106	HL-60	blood:	n/a
20	chr13:96742056-96742106	HCT-116	colon:	n/a
21	chr13:96742056-96742106	NHDF-neo	bronchial:	n/a
22	chr13:96742056-96742106	GM12892	blood:	n/a
23	chr13:96742056-96742106	Jurkat	blood:	n/a
24	chr13:96742056-96742106	T-47D	breast:	n/a
25	chr13:96742056-96742106	CMK	blood:	n/a
26	chr13:96742056-96742106	Caco-2	colon:	n/a
27	chr13:96742056-96742106	AG04450	lung:	fetal
28	chr13:96742056-96742106	SKMC	muscle:	n/a
29	chr13:96742056-96742106	MCF-7	breast:	n/a
30	chr13:96742056-96742106	HEK293	kidney:	embryo
31	chr13:96742056-96742106	GM19239	blood:	n/a
32	chr13:96742056-96742106	A549	lung:	n/a
33	chr13:96742056-96742106	K562	blood:	n/a
34	chr13:96742056-96742106	HRCEpiC	kidney:	n/a
35	chr13:96742056-96742106	HCF	heart:	n/a
36	chr13:96742056-96742106	HRE	kidney:	n/a
37	chr13:96742056-96742106	ECC-1	luminal epithelium:	n/a
38	chr13:96742056-96742106	RPTEC	kidney:	n/a
39	chr13:96742056-96742106	HMEC	breast:	n/a
40	chr13:96742056-96742106	ovcar-3	ovarian:	n/a
41	chr13:96742056-96742106	HAEpiC	amniotic membrane:	n/a
42	chr13:96742056-96742106	AG09319	gingival:	n/a
43	chr13:96742056-96742106	HNPCEpiC	eye:	n/a
44	chr13:96742056-96742106	HPAEpiC	pulmonary alveolar:	n/a
45	chr13:96742056-96742106	NB4	blood:	n/a
46	chr13:96742056-96742106	HRPEpiC	eye:	n/a
47	chr13:96742056-96742106	HIPEpiC	eye:	n/a
48	chr13:96742056-96742106	HepG2	liver:	n/a
49	chr13:96742056-96742106	AG09309	skin:	n/a
50	chr13:96742056-96742106	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96705694..96707387-chr13:96740919..96743720,3	MCF-7	breast:

No data

Variant related genes	Relation type
HS6ST3	TF binding region
HS6ST3	CpG island
ENSG00000102595	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869471	chr13:96622327-97223956	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv530390	chr13:96681439-97193029	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv900936	chr13:96697209-97032483	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv1814494	chr13:96739784-96743232	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1837656	chr13:96739784-96743232	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1796846	chr13:96740247-96743122	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1806205	chr13:96740247-96743122	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1794862	chr13:96740247-96743232	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1802553	chr13:96740247-96743232	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1803999	chr13:96740247-96743232	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1811459	chr13:96740247-96743232	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1812205	chr13:96740247-96743232	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1822504	chr13:96740247-96743232	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1834295	chr13:96740247-96743232	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1837055	chr13:96740247-96743232	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1843741	chr13:96740247-96743232	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv1847064	chr13:96740247-96743232	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3512096	chr13:96741726-96744649	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3512098	chr13:96741726-96744649	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv562780	chr13:96741862-96742681	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3404879	chr13:96741976-96744524	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96741600-96742400	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr13:96741600-96742600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr13:96741600-96744200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:96741800-96742200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr13:96741800-96742200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr13:96741800-96742200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
7	chr13:96741800-96742200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr13:96741800-96742200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
9	chr13:96741800-96742400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:96741800-96742400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr13:96741800-96742400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
12	chr13:96741800-96742400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
13	chr13:96741800-96742600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr13:96741800-96742600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:96741800-96742600	Flanking Active TSS	Pancreas	Pancrea
16	chr13:96741800-96742600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
17	chr13:96741800-96743200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:96741800-96743400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr13:96741800-96743400	Bivalent/Poised TSS	Right Ventricle	heart
20	chr13:96741800-96743600	Active TSS	Brain Substantia Nigra	brain
21	chr13:96741800-96744000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:96741800-96744400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr13:96741800-96744400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr13:96741800-96744400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr13:96741800-96744600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr13:96741800-96744600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr13:96741800-96746000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:96742000-96742200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:96742000-96742200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr13:96742000-96742200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
36	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	Liver	Liver
37	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
38	chr13:96742000-96742200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr13:96742000-96742200	Bivalent Enhancer	Esophagus	oesophagus
40	chr13:96742000-96742200	Active TSS	Right Atrium	heart
41	chr13:96742000-96742200	Bivalent Enhancer	GM12878-XiMat	blood
42	chr13:96742000-96742200	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr13:96742000-96742400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:96742000-96742400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:96742000-96742400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:96742000-96742400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr13:96742000-96742400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr13:96742000-96742400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:96742000-96742400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr13:96742000-96742400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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