Variant report

Variant	rs7325012
Chromosome Location	chr13:95360051-95360052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr13:95359989-95360113	HepG2	liver:	n/a	n/a
2	E2F6	chr13:95359597-95360128	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:95359788-95360944	H1-neurons	neurons:	n/a	n/a
4	CEBPB	chr13:95359982-95360283	K562	blood:	n/a	chr13:95360112-95360123
5	E2F6	chr13:95359174-95360317	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr13:95359172-95360248	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr13:95358768-95360299	H1-neurons	neurons:	n/a	n/a
8	CEBPB	chr13:95359962-95360129	HepG2	liver:	n/a	chr13:95360112-95360123
9	FOXA2	chr13:95359782-95360166	A549	lung:	n/a	n/a
10	MAX	chr13:95359395-95360250	H1-hESC	embryonic stem cell:	n/a	n/a
11	KAP1	chr13:95359839-95360515	U2OS	brain:	n/a	n/a
12	CEBPB	chr13:95359916-95360279	H1-hESC	embryonic stem cell:	n/a	chr13:95360112-95360123
13	POLR2A	chr13:95359545-95360165	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr13:95359642-95360182	H1-hESC	embryonic stem cell:	n/a	n/a
15	KAP1	chr13:95359115-95361120	HEK293	kidney:	n/a	n/a
16	MAX	chr13:95359503-95360243	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr13:95359027-95360743	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA2	chr13:95359695-95360731	SH-SY5Y	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95354749..95357417-chr13:95358781..95361227,3	MCF-7	breast:
2	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOX21-1	chr13:95359725-95360750	ENSG00000248922
2	lnc-SOX21-1	chr13:95359725-95360733	NONHSAT034735

No data

Variant related genes	Relation type
SOX21-AS1	TF binding region
LINC00391	TF binding region
ENSG00000227640	Chromatin interaction
ENSG00000238230	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7321649	1.00[AMR][1000 genomes]
rs7331791	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1813549	chr13:95333331-95377127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1824604	chr13:95357807-95365771	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv826750	chr13:95358502-95368070	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95357600-95360800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr13:95358600-95362400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr13:95358800-95360800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr13:95358800-95361000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:95358800-95361000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr13:95358800-95361200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr13:95358800-95361600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:95359000-95360800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr13:95359000-95360800	Active TSS	Brain Substantia Nigra	brain
13	chr13:95359000-95360800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
14	chr13:95359000-95360800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr13:95359000-95362200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:95359200-95360200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr13:95359200-95360400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr13:95359200-95360600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:95359200-95360800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:95359200-95360800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
22	chr13:95359200-95360800	Bivalent/Poised TSS	NH-A	brain
23	chr13:95359200-95361000	Active TSS	Brain Anterior Caudate	brain
24	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:95359400-95360200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:95359400-95360200	Bivalent Enhancer	Fetal Heart	heart
27	chr13:95359400-95360400	Bivalent/Poised TSS	A549	lung
28	chr13:95359400-95360600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr13:95359400-95360800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:95359400-95360800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr13:95359400-95360800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr13:95359400-95361000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr13:95359400-95361000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr13:95359600-95360200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:95359600-95360200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr13:95359600-95360200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:95359600-95360200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr13:95359600-95360200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:95359600-95360200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:95359600-95360200	Bivalent Enhancer	Liver	Liver
41	chr13:95359600-95360200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr13:95359600-95360200	Enhancers	Pancreas	Pancrea
43	chr13:95359600-95360200	Flanking Active TSS	Right Ventricle	heart
44	chr13:95359600-95360200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr13:95359600-95360400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr13:95359600-95360400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr13:95359600-95360600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:95359600-95360600	Bivalent Enhancer	Placenta	Placenta
49	chr13:95359600-95360600	Enhancers	Spleen	Spleen
50	chr13:95359600-95360600	Flanking Bivalent TSS/Enh	NHEK	skin

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