Variant report

Variant	rs377473603
Chromosome Location	chr12:124119658-124119659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124117806-124119812	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:124118989-124119782	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:124117702-124120166	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:124117851-124119795	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:124119470-124119752	K562	blood:	n/a	n/a
6	WRNIP1	chr12:124118026-124119703	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:124118990-124119943	H1-hESC	embryonic stem cell:	n/a	n/a
8	RUNX3	chr12:124119467-124119673	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:124117595-124119732	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:124117775-124119926	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:124117744-124119687	K562	blood:	n/a	n/a
12	POLR2A	chr12:124119007-124119858	GM12891	blood:	n/a	n/a
13	POLR2A	chr12:124117798-124119823	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr12:124117567-124119816	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr12:124119508-124119773	ECC-1	luminal epithelium:	n/a	n/a
16	HCFC1	chr12:124117557-124119744	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:124117751-124119836	GM12892	blood:	n/a	n/a
18	POLR2A	chr12:124118777-124119858	GM12892	blood:	n/a	n/a
19	POLR2A	chr12:124119633-124119767	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:124118927-124119768	K562	blood:	n/a	n/a
21	POLR2A	chr12:124117822-124119952	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr12:124117681-124120549	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:124119415-124119752	K562	blood:	n/a	n/a
24	POLR2A	chr12:124119592-124119801	GM12891	blood:	n/a	n/a
25	POLR2A	chr12:124119616-124119765	GM12878	blood:	n/a	n/a
26	HEY1	chr12:124117778-124119934	K562	blood:	n/a	chr12:124118165-124118180
27	POLR2A	chr12:124118984-124119817	GM12891	blood:	n/a	n/a
28	POLR2A	chr12:124117769-124119805	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:124117923-124119814	K562	blood:	n/a	n/a
30	POLR2A	chr12:124117809-124119792	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124119657-124119707	HCPEpiC	choroid plexus:	n/a
2	chr12:124119657-124119707	IMR90	lung:	fetal
3	chr12:124119657-124119707	MCF10A-Er-Src	breast:	n/a
4	chr12:124119657-124119707	PrEC	prostate:	n/a
5	chr12:124119657-124119707	NHDF-neo	bronchial:	n/a
6	chr12:124119657-124119707	NH-A	brain:	n/a
7	chr12:124119657-124119707	HCF	heart:	n/a
8	chr12:124119657-124119707	HRCEpiC	kidney:	n/a
9	chr12:124119657-124119707	PANC-1	pancreas:	n/a
10	chr12:124119657-124119707	SK-N-SH	brain:	n/a
11	chr12:124119657-124119707	HRE	kidney:	n/a
12	chr12:124119657-124119707	SKMC	muscle:	n/a
13	chr12:124119657-124119707	GM12878	blood:	n/a
14	chr12:124119657-124119707	GM12891	blood:	n/a
15	chr12:124119657-124119707	HNPCEpiC	eye:	n/a
16	chr12:124119657-124119707	RPTEC	kidney:	n/a
17	chr12:124119657-124119707	Hepatocyte	liver:	n/a
18	chr12:124119657-124119707	HUVEC	blood vessel:	n/a
19	chr12:124119657-124119707	H1-hESC	embryonic stem cell:	embryo
20	chr12:124119657-124119707	AG09319	gingival:	n/a
21	chr12:124119657-124119707	NB4	blood:	n/a
22	chr12:124119657-124119707	GM19239	blood:	n/a
23	chr12:124119657-124119707	HEEpiC	esophagus:	n/a
24	chr12:124119657-124119707	SAEC	small airway:	n/a
25	chr12:124119657-124119707	ovcar-3	ovarian:	n/a
26	chr12:124119657-124119707	HMEC	breast:	n/a
27	chr12:124119657-124119707	CMK	blood:	n/a
28	chr12:124119657-124119707	AG09309	skin:	n/a
29	chr12:124119657-124119707	HCT-116	colon:	n/a
30	chr12:124119657-124119707	HepG2	liver:	n/a
31	chr12:124119657-124119707	BE2_C	brain:	n/a
32	chr12:124119657-124119707	AoSMC	blood vessel:	n/a
33	chr12:124119657-124119707	LNCaP	prostate:	n/a
34	chr12:124119657-124119707	GM12892	blood:	n/a
35	chr12:124119657-124119707	BJ	skin:	n/a
36	chr12:124119657-124119707	A549	lung:	n/a
37	chr12:124119657-124119707	HEK293	kidney:	embryo
38	chr12:124119657-124119707	SK-N-SH_RA	brain:	n/a
39	chr12:124119657-124119707	ProgFib	skin:	n/a
40	chr12:124119657-124119707	Caco-2	colon:	n/a
41	chr12:124119657-124119707	SK-N-MC	brain:	n/a
42	chr12:124119657-124119707	AG04449	skin:	fetal
43	chr12:124119657-124119707	MCF-7	breast:	n/a
44	chr12:124119657-124119707	HIPEpiC	eye:	n/a
45	chr12:124119657-124119707	HAEpiC	amniotic membrane:	n/a
46	chr12:124119657-124119707	AG04450	lung:	fetal
47	chr12:124119657-124119707	Hela-S3	cervix:	n/a
48	chr12:124119657-124119707	GM06990	blood:	n/a
49	chr12:124119657-124119707	HRPEpiC	eye:	n/a
50	chr12:124119657-124119707	HL-60	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
2	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
3	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
4	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
5	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
6	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
7	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
8	chr12:124105722..124107597-chr12:124119086..124122015,4	K562	blood:
9	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
10	chr12:123875063..123876805-chr12:124118427..124120711,2	K562	blood:
11	chr12:124118119..124120182-chr12:124196891..124198426,2	K562	blood:
12	chr12:123866683..123868660-chr12:124118535..124120956,2	K562	blood:
13	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
14	chr12:124119318..124121767-chr12:124194183..124197056,2	MCF-7	breast:
15	chr1:183896810..183898310-chr12:124119036..124121731,2	K562	blood:
16	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
17	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
18	chr12:124086664..124088557-chr12:124117448..124120033,4	K562	blood:
19	chr12:123847883..123849879-chr12:124118467..124120545,3	K562	blood:
20	chr12:124119450..124122240-chr12:124131405..124134508,3	MCF-7	breast:

No data

Variant related genes	Relation type
GTF2H3	TF binding region
EIF2B1	TF binding region
GTF2H3	CpG island
EIF2B1	CpG island
ENSG00000111364	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000119242	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	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124117400-124119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:124118400-124119800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:124118600-124119800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:124118800-124119800	Enhancers	Small Intestine	intestine
5	chr12:124118800-124119800	Enhancers	Spleen	Spleen
6	chr12:124119000-124119800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:124119000-124119800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:124119000-124119800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:124119000-124119800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:124119000-124119800	Enhancers	Left Ventricle	heart
11	chr12:124119000-124119800	Flanking Active TSS	Dnd41	blood
12	chr12:124119000-124119800	Flanking Active TSS	Hela-S3	cervix
13	chr12:124119200-124119800	Enhancers	Primary B cells from cord blood	blood
14	chr12:124119200-124119800	Enhancers	Primary T cells from cord blood	blood
15	chr12:124119200-124119800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:124119200-124119800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:124119200-124119800	Enhancers	Liver	Liver
18	chr12:124119200-124119800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:124119200-124119800	Flanking Active TSS	A549	lung
20	chr12:124119200-124119800	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:124119200-124119800	Transcr. at gene 5' and 3'	K562	blood
22	chr12:124119200-124119800	Flanking Active TSS	NHDF-Ad	bronchial
23	chr12:124119200-124119800	Flanking Active TSS	NHEK	skin
24	chr12:124119200-124124400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:124119200-124129800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:124119200-124129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:124119200-124130000	Weak transcription	Pancreas	Pancrea
28	chr12:124119200-124130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:124119200-124130200	Weak transcription	Right Ventricle	heart
30	chr12:124119200-124141000	Weak transcription	Aorta	Aorta
31	chr12:124119200-124155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:124119400-124119800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr12:124119400-124119800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:124119400-124119800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:124119400-124119800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:124119400-124119800	Enhancers	Adipose Nuclei	Adipose
37	chr12:124119400-124119800	Enhancers	Brain Anterior Caudate	brain
38	chr12:124119400-124119800	Enhancers	Brain Germinal Matrix	brain
39	chr12:124119400-124119800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:124119400-124119800	Enhancers	Fetal Lung	lung
41	chr12:124119400-124119800	Enhancers	Fetal Muscle Leg	muscle
42	chr12:124119400-124119800	Enhancers	Psoas Muscle	Psoas
43	chr12:124119400-124119800	Flanking Active TSS	HepG2	liver
44	chr12:124119400-124123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:124119400-124123800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:124119400-124124000	Weak transcription	Esophagus	oesophagus
47	chr12:124119400-124124400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:124119400-124124400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:124119400-124124600	Weak transcription	Fetal Intestine Large	intestine
50	chr12:124119400-124124600	Weak transcription	Rectal Mucosa Donor 31	rectum

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