Variant report

Variant	rs373701223
Chromosome Location	chr12:58133025-58133026
allele	C/T
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	MAZ	chr12:58132667-58133058	K562	blood:	n/a	chr12:58132910-58132920
2	RFX5	chr12:58132693-58133033	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:58132662-58133069	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr12:58132670-58133050	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:58132258-58133084	H1-neurons	neurons:	n/a	n/a
6	ZBTB7A	chr12:58132628-58133032	K562	blood:	n/a	n/a
7	ZBTB7A	chr12:58132436-58133121	ECC-1	luminal epithelium:	n/a	chr12:58133067-58133075
8	MAZ	chr12:58132741-58133038	HepG2	liver:	n/a	chr12:58132910-58132920
9	SP1	chr12:58132750-58133029	K562	blood:	n/a	n/a
10	CHD2	chr12:58132699-58133135	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr12:58132559-58133063	H1-hESC	embryonic stem cell:	n/a	chr12:58132651-58132660 chr12:58132650-58132662 chr12:58132650-58132662 chr12:58132652-58132661
12	CHD1	chr12:58132621-58133184	IMR90	lung:	n/a	n/a
13	REST	chr12:58132249-58133249	H1-neurons	neurons:	n/a	chr12:58132526-58132539 chr12:58132267-58132281
14	JUND	chr12:58132669-58133175	SK-N-SH	brain:	n/a	n/a
15	JUND	chr12:58132609-58133168	SK-N-SH	brain:	n/a	n/a
16	TEAD4	chr12:58132660-58133049	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr12:58132597-58133048	MCF-7	breast:	n/a	n/a
18	JUND	chr12:58132613-58133097	A549	lung:	n/a	n/a
19	JUND	chr12:58132717-58133155	A549	lung:	n/a	n/a
20	MAZ	chr12:58132546-58133038	IMR90	lung:	n/a	chr12:58132587-58132597 chr12:58132910-58132920
21	RFX5	chr12:58132334-58133513	SK-N-SH	brain:	n/a	chr12:58133399-58133413 chr12:58133395-58133412 chr12:58133396-58133411 chr12:58133401-58133410 chr12:58133396-58133411 chr12:58133396-58133411
22	SP1	chr12:58132595-58133099	K562	blood:	n/a	chr12:58133082-58133095 chr12:58132651-58132660 chr12:58132650-58132662 chr12:58132650-58132662 chr12:58132652-58132661
23	YY1	chr12:58132621-58133043	SK-N-SH_RA	brain:	n/a	n/a
24	SP1	chr12:58132532-58133224	A549	lung:	n/a	chr12:58133082-58133095 chr12:58132651-58132660 chr12:58132650-58132662 chr12:58132650-58132662 chr12:58132652-58132661
25	SP4	chr12:58132640-58133053	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr12:58132678-58133062	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3A	chr12:58132717-58133066	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr12:58132666-58133044	SK-N-SH	brain:	n/a	chr12:58132910-58132920
29	SP1	chr12:58132494-58133273	A549	lung:	n/a	chr12:58133082-58133095 chr12:58132651-58132660 chr12:58132650-58132662 chr12:58132650-58132662 chr12:58132652-58132661
30	TCF12	chr12:58132550-58133185	A549	lung:	n/a	n/a
31	SP1	chr12:58132721-58133094	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUN	chr12:58132720-58133052	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58133008-58133058	ProgFib	skin:	n/a
2	chr12:58133008-58133058	PANC-1	pancreas:	n/a
3	chr12:58133008-58133058	IMR90	lung:	fetal
4	chr12:58133008-58133058	Hepatocyte	liver:	n/a
5	chr12:58133008-58133058	HCM	heart:	n/a
6	chr12:58133008-58133058	BE2_C	brain:	n/a
7	chr12:58133008-58133058	Hela-S3	cervix:	n/a
8	chr12:58133008-58133058	H1-hESC	embryonic stem cell:	embryo
9	chr12:58133008-58133058	PrEC	prostate:	n/a
10	chr12:58133008-58133058	AG09319	gingival:	n/a
11	chr12:58133008-58133058	HRE	kidney:	n/a
12	chr12:58133008-58133058	SAEC	small airway:	n/a
13	chr12:58133008-58133058	HPAEpiC	pulmonary alveolar:	n/a
14	chr12:58133008-58133058	HIPEpiC	eye:	n/a
15	chr12:58133008-58133058	AG04450	lung:	fetal
16	chr12:58133008-58133058	NB4	blood:	n/a
17	chr12:58133008-58133058	SK-N-MC	brain:	n/a
18	chr12:58133008-58133058	HRCEpiC	kidney:	n/a
19	chr12:58133008-58133058	HCT-116	colon:	n/a
20	chr12:58133008-58133058	BJ	skin:	n/a
21	chr12:58133008-58133058	CMK	blood:	n/a
22	chr12:58133008-58133058	SK-N-SH	brain:	n/a
23	chr12:58133008-58133058	SKMC	muscle:	n/a
24	chr12:58133008-58133058	RPTEC	kidney:	n/a
25	chr12:58133008-58133058	T-47D	breast:	n/a
26	chr12:58133008-58133058	HCPEpiC	choroid plexus:	n/a
27	chr12:58133008-58133058	LNCaP	prostate:	n/a
28	chr12:58133008-58133058	GM12892	blood:	n/a
29	chr12:58133008-58133058	MCF10A-Er-Src	breast:	n/a
30	chr12:58133008-58133058	HRPEpiC	eye:	n/a
31	chr12:58133008-58133058	Caco-2	colon:	n/a
32	chr12:58133008-58133058	SK-N-SH_RA	brain:	n/a
33	chr12:58133008-58133058	MCF-7	breast:	n/a
34	chr12:58133008-58133058	HepG2	liver:	n/a
35	chr12:58133008-58133058	HEK293	kidney:	embryo
36	chr12:58133008-58133058	GM12878	blood:	n/a
37	chr12:58133008-58133058	HEEpiC	esophagus:	n/a
38	chr12:58133008-58133058	HUVEC	blood vessel:	n/a
39	chr12:58133008-58133058	NT2-D1	testis:	n/a
40	chr12:58133008-58133058	U87	brain:	n/a
41	chr12:58133008-58133058	K562	blood:	n/a
42	chr12:58133008-58133058	HNPCEpiC	eye:	n/a
43	chr12:58133008-58133058	HMEC	breast:	n/a
44	chr12:58133008-58133058	AoSMC	blood vessel:	n/a
45	chr12:58133008-58133058	AG04449	skin:	fetal
46	chr12:58133008-58133058	A549	lung:	n/a
47	chr12:58133008-58133058	AG10803	skin:	n/a
48	chr12:58133008-58133058	GM19239	blood:	n/a
49	chr12:58133008-58133058	NH-A	brain:	n/a
50	chr12:58133008-58133058	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57914271..57916098-chr12:58131440..58134732,4	K562	blood:
2	chr12:57916381..57918711-chr12:58131475..58134282,2	MCF-7	breast:
3	chr12:57909973..57915898-chr12:58127755..58134567,15	K562	blood:

Variant related genes	Relation type
TSPAN31	TF binding region
AGAP2	TF binding region
TSPAN31	CpG island
AGAP2	CpG island
ENSG00000175197	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000166987	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv3408774	chr12:58130710-58133658	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv3429081	chr12:58131185-58133683	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58127800-58133600	Weak transcription	GM12878-XiMat	blood
2	chr12:58129600-58133200	Enhancers	Pancreas	Pancrea
3	chr12:58130200-58134200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:58130600-58133200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr12:58130800-58133200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:58131200-58133600	Active TSS	Brain Angular Gyrus	brain
7	chr12:58131200-58134400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:58131200-58138000	Weak transcription	K562	blood
9	chr12:58131400-58133200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr12:58131600-58133200	Active TSS	Right Atrium	heart
11	chr12:58131600-58133600	Bivalent/Poised TSS	Left Ventricle	heart
12	chr12:58131600-58134600	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:58131800-58133200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:58131800-58138000	Weak transcription	Lung	lung
15	chr12:58132000-58134800	Weak transcription	Spleen	Spleen
16	chr12:58132200-58133400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
17	chr12:58132200-58138800	Weak transcription	Gastric	stomach
18	chr12:58132400-58133200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:58132400-58133200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr12:58132400-58133600	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr12:58132400-58133600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:58132400-58133800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:58132400-58134200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:58132400-58134400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:58132600-58133200	Genic enhancers	Primary T cells from cord blood	blood
26	chr12:58132600-58133400	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr12:58132600-58133600	Enhancers	Primary B cells from cord blood	blood
28	chr12:58132600-58133600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:58132600-58133600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:58132600-58134200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:58132600-58134200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:58132800-58133200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:58132800-58133200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:58132800-58133200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:58132800-58133200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr12:58132800-58133200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
37	chr12:58132800-58133200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:58132800-58133200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr12:58132800-58133400	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr12:58132800-58133400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr12:58132800-58133400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr12:58132800-58133600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:58132800-58133600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:58132800-58133600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr12:58132800-58133800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:58132800-58133800	Bivalent Enhancer	Fetal Brain Male	brain
47	chr12:58132800-58133800	Genic enhancers	Thymus	Thymus
48	chr12:58132800-58133800	Genic enhancers	Dnd41	blood
49	chr12:58132800-58134000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
50	chr12:58132800-58134000	Bivalent Enhancer	Fetal Stomach	stomach

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