Variant report

Variant	rs575106833
Chromosome Location	chr12:58130208-58130209
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:58129664-58130618	K562	blood:	n/a	n/a
2	POLR2A	chr12:58129709-58130510	K562	blood:	n/a	n/a
3	RCOR1	chr12:58129312-58130607	K562	blood:	n/a	n/a
4	SIN3A	chr12:58129343-58130824	H1-hESC	embryonic stem cell:	n/a	chr12:58130201-58130214
5	POLR2A	chr12:58130169-58130646	K562	blood:	n/a	n/a
6	POLR2A	chr12:58129701-58130629	K562	blood:	n/a	n/a
7	EGR1	chr12:58129692-58130452	K562	blood:	n/a	chr12:58130000-58130013 chr12:58129888-58129901 chr12:58130237-58130250 chr12:58130336-58130343 chr12:58130018-58130031 chr12:58130275-58130288 chr12:58130275-58130288 chr12:58130274-58130289
8	CTBP2	chr12:58129316-58131871	H1-hESC	embryonic stem cell:	n/a	n/a
9	ETS1	chr12:58130060-58130429	A549	lung:	n/a	n/a
10	BHLHE40	chr12:58129680-58130524	K562	blood:	n/a	chr12:58129921-58129937 chr12:58129924-58129940
11	UBTF	chr12:58129687-58130593	K562	blood:	n/a	n/a
12	POLR2A	chr12:58129673-58130688	H1-neurons	neurons:	n/a	n/a
13	CTCF	chr12:58129398-58130509	A549	lung:	n/a	chr12:58130211-58130220
14	MYC	chr12:58129654-58130447	K562	blood:	n/a	n/a
15	GABPA	chr12:58129734-58130369	K562	blood:	n/a	n/a
16	ZBTB7A	chr12:58129787-58130438	ECC-1	luminal epithelium:	n/a	n/a
17	TCF12	chr12:58129582-58130741	A549	lung:	n/a	chr12:58130440-58130450
18	MAX	chr12:58129600-58130719	A549	lung:	n/a	n/a
19	ZNF143	chr12:58130190-58130496	H1-hESC	embryonic stem cell:	n/a	chr12:58130315-58130325
20	HMGN3	chr12:58129725-58130362	K562	blood:	n/a	n/a
21	ELF1	chr12:58129668-58130518	K562	blood:	n/a	chr12:58129998-58130010
22	MAZ	chr12:58129580-58131361	IMR90	lung:	n/a	n/a
23	POLR2A	chr12:58130169-58130617	K562	blood:	n/a	n/a
24	EGR1	chr12:58129725-58130480	K562	blood:	n/a	chr12:58130000-58130013 chr12:58129888-58129901 chr12:58130237-58130250 chr12:58130336-58130343 chr12:58130018-58130031 chr12:58130275-58130288 chr12:58130275-58130288 chr12:58130274-58130289
25	MAZ	chr12:58129474-58130493	K562	blood:	n/a	n/a
26	CBX3	chr12:58129610-58130695	K562	blood:	n/a	n/a
27	HDAC2	chr12:58129483-58130297	MCF-7	breast:	n/a	n/a
28	CEBPB	chr12:58130159-58130209	K562	blood:	n/a	n/a
29	ZBTB7A	chr12:58130049-58130428	K562	blood:	n/a	n/a
30	ZBTB7A	chr12:58129710-58130417	K562	blood:	n/a	n/a
31	NR2F2	chr12:58129583-58131535	K562	blood:	n/a	n/a
32	RAD21	chr12:58129319-58130271	SK-N-SH	brain:	n/a	chr12:58129957-58129969 chr12:58129822-58129836
33	SUZ12	chr12:58130135-58132131	NT2-D1	testis:	n/a	n/a
34	CTCF	chr12:58129312-58130251	SK-N-SH	brain:	n/a	chr12:58130211-58130220

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58130183-58130233	RPTEC	kidney:	n/a
2	chr12:58130183-58130233	Hepatocyte	liver:	n/a
3	chr12:58130183-58130233	HNPCEpiC	eye:	n/a
4	chr12:58130183-58130233	Jurkat	blood:	n/a
5	chr12:58130183-58130233	PANC-1	pancreas:	n/a
6	chr12:58130183-58130233	HCM	heart:	n/a
7	chr12:58130183-58130233	HCF	heart:	n/a
8	chr12:58130183-58130233	NH-A	brain:	n/a
9	chr12:58130183-58130233	HCT-116	colon:	n/a
10	chr12:58130183-58130233	HMEC	breast:	n/a
11	chr12:58130183-58130233	SAEC	small airway:	n/a
12	chr12:58130183-58130233	NB4	blood:	n/a
13	chr12:58130183-58130233	IMR90	lung:	fetal
14	chr12:58130183-58130233	HUVEC	blood vessel:	n/a
15	chr12:58130183-58130233	Caco-2	colon:	n/a
16	chr12:58130183-58130233	A549	lung:	n/a
17	chr12:58130183-58130233	AoSMC	blood vessel:	n/a
18	chr12:58130183-58130233	U87	brain:	n/a
19	chr12:58130183-58130233	CMK	blood:	n/a
20	chr12:58130183-58130233	AG04449	skin:	fetal
21	chr12:58130183-58130233	GM12892	blood:	n/a
22	chr12:58130183-58130233	GM19239	blood:	n/a
23	chr12:58130183-58130233	HRPEpiC	eye:	n/a
24	chr12:58130183-58130233	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:58130183-58130233	NT2-D1	testis:	n/a
26	chr12:58130183-58130233	HEK293	kidney:	embryo
27	chr12:58130183-58130233	HEEpiC	esophagus:	n/a
28	chr12:58130183-58130233	HepG2	liver:	n/a
29	chr12:58130183-58130233	MCF10A-Er-Src	breast:	n/a
30	chr12:58130183-58130233	MCF-7	breast:	n/a
31	chr12:58130183-58130233	ovcar-3	ovarian:	n/a
32	chr12:58130183-58130233	NHDF-neo	bronchial:	n/a
33	chr12:58130183-58130233	BJ	skin:	n/a
34	chr12:58130183-58130233	SK-N-SH_RA	brain:	n/a
35	chr12:58130183-58130233	HAEpiC	amniotic membrane:	n/a
36	chr12:58130183-58130233	SK-N-MC	brain:	n/a
37	chr12:58130183-58130233	PrEC	prostate:	n/a
38	chr12:58130183-58130233	HL-60	blood:	n/a
39	chr12:58130183-58130233	SK-N-SH	brain:	n/a
40	chr12:58130183-58130233	NHBE	bronchial:	n/a
41	chr12:58130183-58130233	SKMC	muscle:	n/a
42	chr12:58130183-58130233	LNCaP	prostate:	n/a
43	chr12:58130183-58130233	AG04450	lung:	fetal
44	chr12:58130183-58130233	GM12878	blood:	n/a
45	chr12:58130183-58130233	PFSK-1	brain:	n/a
46	chr12:58130183-58130233	HIPEpiC	eye:	n/a
47	chr12:58130183-58130233	AG10803	skin:	n/a
48	chr12:58130183-58130233	BE2_C	brain:	n/a
49	chr12:58130183-58130233	HRCEpiC	kidney:	n/a
50	chr12:58130183-58130233	HRE	kidney:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57915857..57917548-chr12:58128281..58130652,2	MCF-7	breast:
2	chr12:57951614..57954558-chr12:58128271..58131020,2	K562	blood:
3	chr12:58086411..58090647-chr12:58128680..58131579,3	MCF-7	breast:
4	chr12:58016846..58018792-chr12:58129433..58131831,2	K562	blood:
5	chr12:58086094..58088041-chr12:58129129..58130888,2	K562	blood:
6	chr12:57985447..57987407-chr12:58128480..58131325,2	MCF-7	breast:
7	chr12:57934862..57937510-chr12:58129218..58130977,3	K562	blood:
8	chr12:58014906..58016961-chr12:58128240..58131170,2	K562	blood:
9	chr12:57914398..57918240-chr12:58127433..58131340,5	K562	blood:
10	chr12:58112503..58116669-chr12:58128862..58132734,4	K562	blood:
11	chr12:57976837..57977750-chr12:58129328..58130470,7	MCF-7	breast:
12	chr12:57934862..57936382-chr12:58129218..58130903,2	K562	blood:
13	chr12:58014473..58015189-chr12:58129760..58130291,2	MCF-7	breast:
14	chr12:58117957..58120676-chr12:58129042..58131410,3	K562	blood:
15	chr12:57976568..57977825-chr12:58129195..58130317,11	K562	blood:
16	chr12:57909973..57915898-chr12:58127755..58134567,15	K562	blood:

No data

Variant related genes	Relation type
AGAP2	TF binding region
TSPAN31	TF binding region
AGAP2	CpG island
TSPAN31	CpG island
ENSG00000175197	Chromatin interaction
ENSG00000257342	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000255737	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv1851618	chr12:58109302-58131947	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv899122	chr12:58118248-58137563	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	esv3363572	chr12:58129335-58133633	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv826385	chr12:58129908-58133427	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58118400-58132000	Strong transcription	Primary T cells from cord blood	blood
2	chr12:58119200-58132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:58119600-58130400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:58119600-58130400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:58119600-58131200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:58119600-58131400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:58119600-58132400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:58119600-58132800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:58119600-58133000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:58120000-58131400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:58120400-58131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:58120400-58132400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:58121400-58132800	Strong transcription	Thymus	Thymus
14	chr12:58121800-58132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:58123000-58131400	Strong transcription	Fetal Thymus	thymus
16	chr12:58127800-58133600	Weak transcription	GM12878-XiMat	blood
17	chr12:58128000-58131600	Bivalent Enhancer	Placenta	Placenta
18	chr12:58128600-58130400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:58129000-58130400	Enhancers	Liver	Liver
20	chr12:58129000-58131600	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr12:58129000-58131600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:58129000-58131600	Bivalent Enhancer	Fetal Brain Male	brain
23	chr12:58129000-58131800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr12:58129000-58132200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:58129000-58132400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr12:58129000-58132800	Weak transcription	Dnd41	blood
27	chr12:58129200-58130600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:58129200-58131400	Bivalent Enhancer	Brain Substantia Nigra	brain
29	chr12:58129200-58131800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr12:58129200-58132600	Weak transcription	Primary B cells from cord blood	blood
31	chr12:58129200-58132600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:58129400-58130400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr12:58129400-58130600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:58129400-58130600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr12:58129400-58130800	Bivalent Enhancer	Psoas Muscle	Psoas
36	chr12:58129400-58131000	Enhancers	Lung	lung
37	chr12:58129400-58131200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr12:58129400-58131200	Bivalent Enhancer	Fetal Heart	heart
39	chr12:58129400-58131400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr12:58129400-58131400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:58129400-58131600	Genic enhancers	Spleen	Spleen
42	chr12:58129400-58132200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr12:58129400-58133000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:58129600-58130400	Bivalent Enhancer	HUVEC	blood vessel
45	chr12:58129600-58130600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:58129600-58130600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:58129600-58130600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
48	chr12:58129600-58130600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr12:58129600-58130600	Bivalent Enhancer	NHLF	lung
50	chr12:58129600-58131400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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