Variant report

Variant	rs535400602
Chromosome Location	chr12:58130141-58130142
allele	A/C
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	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	chr12:58129701-58130629	K562	blood:	n/a	n/a
6	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
7	CTBP2	chr12:58129316-58131871	H1-hESC	embryonic stem cell:	n/a	n/a
8	ETS1	chr12:58130060-58130429	A549	lung:	n/a	n/a
9	BHLHE40	chr12:58129680-58130524	K562	blood:	n/a	chr12:58129921-58129937 chr12:58129924-58129940
10	UBTF	chr12:58129687-58130593	K562	blood:	n/a	n/a
11	POLR2A	chr12:58129673-58130688	H1-neurons	neurons:	n/a	n/a
12	CTCF	chr12:58129398-58130509	A549	lung:	n/a	chr12:58130211-58130220
13	MYC	chr12:58129654-58130447	K562	blood:	n/a	n/a
14	MAX	chr12:58129733-58130176	A549	lung:	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	HMGN3	chr12:58129725-58130362	K562	blood:	n/a	n/a
20	ELF1	chr12:58129668-58130518	K562	blood:	n/a	chr12:58129998-58130010
21	MAZ	chr12:58129580-58131361	IMR90	lung:	n/a	n/a
22	HA-E2F1	chr12:58129591-58130197	MCF-7	breast:	n/a	chr12:58129888-58129898
23	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
24	MAZ	chr12:58129474-58130493	K562	blood:	n/a	n/a
25	CBX3	chr12:58129610-58130695	K562	blood:	n/a	n/a
26	HDAC2	chr12:58129483-58130297	MCF-7	breast:	n/a	n/a
27	ZBTB7A	chr12:58130049-58130428	K562	blood:	n/a	n/a
28	ZBTB7A	chr12:58129710-58130417	K562	blood:	n/a	n/a
29	NR2F2	chr12:58129583-58131535	K562	blood:	n/a	n/a
30	RAD21	chr12:58129319-58130271	SK-N-SH	brain:	n/a	chr12:58129957-58129969 chr12:58129822-58129836
31	SUZ12	chr12:58130135-58132131	NT2-D1	testis:	n/a	n/a
32	CTCF	chr12:58129312-58130251	SK-N-SH	brain:	n/a	chr12:58130211-58130220

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:

Variant related genes	Relation type
TSPAN31	TF binding region
AGAP2	TF binding region
ENSG00000175203	Chromatin interaction
ENSG00000257342	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000166987	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:111 , 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	chr12:58120200-58130200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:58120400-58131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:58120400-58132400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:58121400-58132800	Strong transcription	Thymus	Thymus
15	chr12:58121600-58130200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:58121800-58130200	Weak transcription	Gastric	stomach
17	chr12:58121800-58132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:58123000-58131400	Strong transcription	Fetal Thymus	thymus
19	chr12:58127800-58133600	Weak transcription	GM12878-XiMat	blood
20	chr12:58128000-58131600	Bivalent Enhancer	Placenta	Placenta
21	chr12:58128400-58130200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:58128600-58130400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:58129000-58130400	Enhancers	Liver	Liver
24	chr12:58129000-58131600	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr12:58129000-58131600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:58129000-58131600	Bivalent Enhancer	Fetal Brain Male	brain
27	chr12:58129000-58131800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr12:58129000-58132200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:58129000-58132400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr12:58129000-58132800	Weak transcription	Dnd41	blood
31	chr12:58129200-58130200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr12:58129200-58130600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:58129200-58131400	Bivalent Enhancer	Brain Substantia Nigra	brain
34	chr12:58129200-58131800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr12:58129200-58132600	Weak transcription	Primary B cells from cord blood	blood
36	chr12:58129200-58132600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:58129400-58130200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:58129400-58130200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:58129400-58130400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr12:58129400-58130600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:58129400-58130600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr12:58129400-58130800	Bivalent Enhancer	Psoas Muscle	Psoas
43	chr12:58129400-58131000	Enhancers	Lung	lung
44	chr12:58129400-58131200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr12:58129400-58131200	Bivalent Enhancer	Fetal Heart	heart
46	chr12:58129400-58131400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr12:58129400-58131400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:58129400-58131600	Genic enhancers	Spleen	Spleen
49	chr12:58129400-58132200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr12:58129400-58133000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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