Variant report

Variant	rs116133290
Chromosome Location	chr13:95253614-95253615
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	TEAD4	chr13:95253603-95254330	K562	blood:	n/a	n/a
2	MAX	chr13:95253535-95254741	H1-hESC	embryonic stem cell:	n/a	chr13:95254118-95254127
3	MAX	chr13:95253513-95254791	A549	lung:	n/a	chr13:95253532-95253542 chr13:95254118-95254127
4	POLR2A	chr13:95253594-95254683	U87	brain:	n/a	n/a
5	CBX3	chr13:95253512-95254519	K562	blood:	n/a	n/a
6	MXI1	chr13:95253560-95254781	IMR90	lung:	n/a	n/a
7	E2F6	chr13:95253565-95254228	K562	blood:	n/a	chr13:95254130-95254140 chr13:95254137-95254147 chr13:95253880-95253891 chr13:95254098-95254107
8	MAX	chr13:95253531-95254484	MCF-7	breast:	n/a	chr13:95253532-95253542 chr13:95254118-95254127
9	NFIC	chr13:95253493-95254161	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr13:95253605-95254665	Raji	blood:	n/a	n/a
11	TCF12	chr13:95253559-95254775	ECC-1	luminal epithelium:	n/a	chr13:95254567-95254574 chr13:95254074-95254084
12	MXI1	chr13:95253591-95255182	SK-N-SH	brain:	n/a	n/a
13	MAX	chr13:95253378-95254759	ECC-1	luminal epithelium:	n/a	chr13:95253532-95253542 chr13:95254118-95254127 chr13:95253492-95253502
14	MAX	chr13:95253612-95254600	A549	lung:	n/a	chr13:95254118-95254127
15	MAX	chr13:95253543-95254686	HCT-116	colon:	n/a	chr13:95254118-95254127
16	JUN	chr13:95253041-95254653	K562	blood:	n/a	chr13:95253498-95253507 chr13:95253495-95253504 chr13:95254099-95254108 chr13:95253496-95253505 chr13:95253494-95253503 chr13:95253497-95253506 chr13:95253492-95253501
17	REST	chr13:95253547-95254812	H1-neurons	neurons:	n/a	n/a
18	E2F6	chr13:95253255-95254708	H1-hESC	embryonic stem cell:	n/a	chr13:95254335-95254344 chr13:95254130-95254140 chr13:95253532-95253541 chr13:95254137-95254147 chr13:95253880-95253891 chr13:95254335-95254347 chr13:95254098-95254107
19	POU2F2	chr13:95253593-95254076	GM12878	blood:	n/a	n/a
20	E2F6	chr13:95253505-95254722	A549	lung:	n/a	chr13:95254335-95254344 chr13:95254130-95254140 chr13:95253532-95253541 chr13:95254137-95254147 chr13:95253880-95253891 chr13:95254335-95254347 chr13:95254098-95254107
21	PML	chr13:95253556-95254788	GM12878	blood:	n/a	chr13:95253611-95253619
22	MAX	chr13:95253486-95254635	H1-hESC	embryonic stem cell:	n/a	chr13:95253532-95253542 chr13:95254118-95254127 chr13:95253492-95253502
23	TEAD4	chr13:95253518-95254263	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr13:95253464-95254624	HEK293	kidney:	n/a	n/a
25	NRF1	chr13:95253515-95254474	SK-N-SH	brain:	n/a	chr13:95253846-95253860 chr13:95254335-95254344 chr13:95253837-95253851 chr13:95253532-95253541 chr13:95253845-95253856 chr13:95253846-95253857 chr13:95253843-95253857
26	MAX	chr13:95253611-95254600	K562	blood:	n/a	chr13:95254118-95254127
27	MAX	chr13:95253382-95254891	A549	lung:	n/a	chr13:95253532-95253542 chr13:95254118-95254127 chr13:95253492-95253502
28	POLR2A	chr13:95253571-95254824	SK-N-SH	brain:	n/a	n/a
29	E2F6	chr13:95253560-95254614	K562	blood:	n/a	chr13:95254335-95254344 chr13:95254130-95254140 chr13:95254137-95254147 chr13:95253880-95253891 chr13:95254335-95254347 chr13:95254098-95254107
30	E2F6	chr13:95253559-95254402	A549	lung:	n/a	chr13:95254335-95254344 chr13:95254130-95254140 chr13:95254137-95254147 chr13:95253880-95253891 chr13:95254335-95254347 chr13:95254098-95254107
31	MAX	chr13:95253537-95254708	K562	blood:	n/a	chr13:95254118-95254127
32	MAX	chr13:95253533-95254738	MCF-7	breast:	n/a	chr13:95254118-95254127
33	MAX	chr13:95253412-95254820	H1-hESC	embryonic stem cell:	n/a	chr13:95253532-95253542 chr13:95254118-95254127 chr13:95253492-95253502
34	MAX	chr13:95253406-95254814	HCT-116	colon:	n/a	chr13:95253532-95253542 chr13:95254118-95254127 chr13:95253492-95253502
35	MAX	chr13:95253351-95254843	ECC-1	luminal epithelium:	n/a	chr13:95253532-95253542 chr13:95254118-95254127 chr13:95253492-95253502
36	SP1	chr13:95253614-95254473	A549	lung:	n/a	chr13:95254335-95254344 chr13:95254097-95254106 chr13:95253993-95254004 chr13:95254097-95254107 chr13:95254340-95254349 chr13:95254336-95254345 chr13:95254336-95254345 chr13:95254331-95254345 chr13:95254097-95254111 chr13:95254096-95254108 chr13:95254098-95254107 chr13:95254334-95254346
37	POLR2A	chr13:95253569-95254746	HL-60	blood:	n/a	n/a
38	POLR2A	chr13:95253588-95254755	U87	brain:	n/a	n/a
39	RUNX3	chr13:95253470-95254789	GM12878	blood:	n/a	n/a
40	TCF12	chr13:95253538-95254225	A549	lung:	n/a	chr13:95254074-95254084
41	RCOR1	chr13:95253429-95255170	IMR90	lung:	n/a	n/a
42	E2F6	chr13:95253606-95254562	Hela-S3	cervix:	n/a	chr13:95254335-95254344 chr13:95254130-95254140 chr13:95254137-95254147 chr13:95253880-95253891 chr13:95254335-95254347 chr13:95254098-95254107
43	NFATC1	chr13:95253607-95254003	GM12878	blood:	n/a	n/a
44	GABPA	chr13:95253599-95254326	HL-60	blood:	n/a	chr13:95253846-95253860 chr13:95253837-95253851 chr13:95253846-95253857 chr13:95253843-95253857
45	HA-E2F1	chr13:95253602-95254704	MCF-7	breast:	n/a	chr13:95254335-95254344 chr13:95254130-95254140 chr13:95254137-95254147 chr13:95254335-95254347 chr13:95254098-95254107
46	RUNX3	chr13:95253528-95254747	GM12878	blood:	n/a	n/a
47	E2F6	chr13:95253123-95254820	H1-hESC	embryonic stem cell:	n/a	chr13:95254335-95254344 chr13:95254130-95254140 chr13:95253532-95253541 chr13:95254137-95254147 chr13:95253880-95253891 chr13:95254335-95254347 chr13:95254098-95254107
48	MAX	chr13:95253569-95254821	NB4	blood:	n/a	chr13:95254118-95254127
49	STAT3	chr13:95253612-95253933	GM12878	blood:	n/a	n/a
50	FOXM1	chr13:95253601-95254051	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:95247274..95249727-chr13:95251841..95255221,4	MCF-7	breast:
2	chr13:95245952..95249992-chr13:95252491..95255739,5	K562	blood:
3	chr13:95246267..95250128-chr13:95251933..95256020,6	MCF-7	breast:

Variant related genes	Relation type
GPR180	TF binding region
ENSG00000088451	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	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
4	esv19608	chr13:95253055-95253914	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv821089	chr13:95253055-95253914	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95249000-95253800	Weak transcription	Spleen	Spleen
2	chr13:95253000-95255600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:95253200-95253800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:95253200-95253800	Enhancers	Fetal Heart	heart
5	chr13:95253200-95254000	Enhancers	Placenta	Placenta
6	chr13:95253200-95254000	Weak transcription	HepG2	liver
7	chr13:95253200-95254600	Active TSS	Stomach Smooth Muscle	stomach
8	chr13:95253200-95254800	Active TSS	Brain Hippocampus Middle	brain
9	chr13:95253200-95255200	Active TSS	Brain Angular Gyrus	brain
10	chr13:95253200-95255800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:95253400-95253800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:95253400-95254000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:95253400-95254200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:95253400-95254800	Active TSS	Colon Smooth Muscle	Colon
15	chr13:95253400-95254800	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr13:95253400-95255000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr13:95253400-95255000	Active TSS	Brain Substantia Nigra	brain
18	chr13:95253400-95255200	Active TSS	Fetal Kidney	kidney
19	chr13:95253600-95253800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:95253600-95253800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:95253600-95253800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:95253600-95253800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr13:95253600-95253800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:95253600-95253800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr13:95253600-95253800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr13:95253600-95253800	Enhancers	Primary hematopoietic stem cells	blood
27	chr13:95253600-95253800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr13:95253600-95253800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:95253600-95253800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr13:95253600-95253800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr13:95253600-95253800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr13:95253600-95253800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:95253600-95253800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:95253600-95253800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr13:95253600-95253800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr13:95253600-95253800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:95253600-95253800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr13:95253600-95253800	Flanking Active TSS	Colonic Mucosa	Colon
39	chr13:95253600-95253800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr13:95253600-95253800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr13:95253600-95253800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr13:95253600-95253800	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr13:95253600-95253800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr13:95253600-95253800	Flanking Active TSS	Thymus	Thymus
45	chr13:95253600-95253800	Flanking Active TSS	HMEC	breast
46	chr13:95253600-95253800	Enhancers	HUVEC	blood vessel
47	chr13:95253600-95253800	Flanking Active TSS	NH-A	brain
48	chr13:95253600-95253800	Flanking Active TSS	Osteobl	bone
49	chr13:95253600-95254000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr13:95253600-95254000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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