Variant report

Variant	rs143592547
Chromosome Location	chr12:49760327-49760328
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr12:49760157-49761591	K562	blood:	n/a	n/a
2	POLR2A	chr12:49760239-49761806	Hela-S3	cervix:	n/a	n/a
3	SIX5	chr12:49760108-49761102	A549	lung:	n/a	n/a
4	GABPA	chr12:49760197-49760776	K562	blood:	n/a	chr12:49760597-49760606 chr12:49760347-49760356
5	ELF1	chr12:49760204-49761409	MCF-7	breast:	n/a	chr12:49760356-49760368 chr12:49761322-49761334
6	NFIC	chr12:49760014-49761408	GM12878	blood:	n/a	n/a
7	MAX	chr12:49760130-49761428	H1-hESC	embryonic stem cell:	n/a	n/a
8	HEY1	chr12:49760125-49761424	HepG2	liver:	n/a	chr12:49760898-49760913 chr12:49760971-49760986 chr12:49760518-49760533
9	POLR2A	chr12:49760135-49761883	GM12878	blood:	n/a	n/a
10	TAF1	chr12:49760226-49761429	K562	blood:	n/a	n/a
11	GATA3	chr12:49760022-49761395	MCF-7	breast:	n/a	chr12:49761286-49761296
12	ELF1	chr12:49760312-49760724	HepG2	liver:	n/a	chr12:49760356-49760368
13	POLR2A	chr12:49760150-49761454	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:49759832-49761928	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr12:49760100-49761469	HCT-116	colon:	n/a	n/a
16	TBP	chr12:49760202-49761231	Hela-S3	cervix:	n/a	n/a
17	TCF12	chr12:49759904-49761442	A549	lung:	n/a	n/a
18	ZBTB7A	chr12:49759978-49761950	ECC-1	luminal epithelium:	n/a	chr12:49760348-49760357 chr12:49760266-49760277
19	MAX	chr12:49760186-49761374	SK-N-SH	brain:	n/a	n/a
20	YY1	chr12:49760263-49761440	A549	lung:	n/a	n/a
21	POLR2A	chr12:49760216-49761561	MCF-7	breast:	n/a	n/a
22	POLR2A	chr12:49760092-49761646	HUVEC	blood vessel:	n/a	n/a
23	MYC	chr12:49760237-49761682	K562	blood:	n/a	n/a
24	POLR2A	chr12:49759876-49761869	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr12:49760303-49761416	GM12891	blood:	n/a	n/a
26	CTCF	chr12:49760180-49760330	BE2_C	brain:	n/a	n/a
27	E2F6	chr12:49760071-49761083	H1-hESC	embryonic stem cell:	n/a	chr12:49760347-49760356 chr12:49761071-49761080 chr12:49761008-49761018 chr12:49761026-49761035 chr12:49760342-49760354 chr12:49760596-49760606
28	YY1	chr12:49760176-49761357	GM12892	blood:	n/a	n/a
29	SIN3A	chr12:49760085-49761782	H1-hESC	embryonic stem cell:	n/a	chr12:49760195-49760209 chr12:49760196-49760205
30	MAX	chr12:49760046-49761398	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr12:49760305-49761514	HUVEC	blood vessel:	n/a	n/a
32	RUNX3	chr12:49759998-49762249	GM12878	blood:	n/a	n/a
33	REST	chr12:49760214-49761399	HL-60	blood:	n/a	chr12:49761322-49761335 chr12:49760355-49760368
34	CCNT2	chr12:49760244-49761501	K562	blood:	n/a	chr12:49760770-49760779 chr12:49761121-49761130
35	POLR2A	chr12:49760138-49761522	HepG2	liver:	n/a	n/a
36	BCLAF1	chr12:49760124-49761159	GM12878	blood:	n/a	chr12:49760690-49760703
37	POLR2A	chr12:49760184-49761716	GM18526	blood:	n/a	n/a
38	POLR2A	chr12:49759988-49761715	ECC-1	luminal epithelium:	n/a	n/a
39	ELF1	chr12:49760212-49760782	K562	blood:	n/a	chr12:49760356-49760368
40	NR2F2	chr12:49759935-49761333	K562	blood:	n/a	n/a
41	CTCF	chr12:49760300-49760450	BE2_C	brain:	n/a	n/a
42	POLR2A	chr12:49760186-49761749	GM19193	blood:	n/a	n/a
43	POLR2A	chr12:49760265-49761496	NB4	blood:	n/a	n/a
44	POLR2A	chr12:49760183-49761400	MCF10A-Er-Src	breast:	n/a	n/a
45	REST	chr12:49760244-49760851	K562	blood:	n/a	chr12:49760355-49760368
46	GTF2B	chr12:49760291-49761195	K562	blood:	n/a	n/a
47	MAX	chr12:49760147-49761378	H1-hESC	embryonic stem cell:	n/a	n/a
48	SIN3AK20	chr12:49760216-49760553	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:49759981-49761955	GM12878	blood:	n/a	n/a
50	GTF2F1	chr12:49760187-49761332	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49716623..49719210-chr12:49759055..49761901,3	MCF-7	breast:
2	chr12:49656837..49661590-chr12:49759665..49765017,7	K562	blood:
3	chr12:49657571..49662873-chr12:49757027..49762131,10	K562	blood:
4	chr12:49740569..49744952-chr12:49759719..49761508,3	K562	blood:
5	chr12:49390072..49392510-chr12:49759241..49762093,2	K562	blood:
6	chr12:49759499..49761453-chr12:49953026..49955590,2	MCF-7	breast:
7	chr12:49759487..49762377-chr12:49960316..49963479,6	K562	blood:
8	chr12:49760226..49761054-chr6:26020583..26021188,2	Hela-S3	cervix:
9	chr12:49759658..49762377-chr12:49960316..49963047,2	K562	blood:
10	chr12:49758876..49762155-chr12:49906533..49909731,5	MCF-7	breast:
11	chr12:6579825..6580446-chr12:49760124..49760909,2	Hela-S3	cervix:
12	chr12:49717382..49719680-chr12:49758980..49761177,3	K562	blood:
13	chr12:49758243..49761237-chr12:50135535..50137212,2	MCF-7	breast:
14	chr12:49757911..49761864-chr12:50015854..50019350,3	K562	blood:
15	chr12:49759630..49760473-chr12:49907526..49908336,2	MCF-7	breast:
16	chr12:49759096..49761213-chr12:49881834..49884299,3	K562	blood:
17	chr12:49759519..49761735-chr12:49853453..49856491,3	K562	blood:
18	chr12:49758102..49760925-chr12:49950793..49953218,2	MCF-7	breast:
19	chr12:49759638..49761406-chr12:49937675..49939250,2	MCF-7	breast:
20	chr12:49759045..49761163-chr12:50015602..50018404,2	MCF-7	breast:
21	chr12:49759192..49762198-chr12:50016828..50018696,3	MCF-7	breast:
22	chr12:49745336..49748188-chr12:49759488..49762139,2	K562	blood:
23	chr12:49759029..49763168-chr12:49779946..49784312,5	MCF-7	breast:
24	chr12:49729980..49733163-chr12:49759007..49762779,4	K562	blood:
25	chr12:49760076..49762481-chr12:49958970..49962083,4	MCF-7	breast:
26	chr12:49760156..49760721-chr2:157198454..157199445,2	Hela-S3	cervix:
27	chr12:49757995..49761023-chr12:49883452..49885795,3	MCF-7	breast:
28	chr12:49740075..49745225-chr12:49756992..49761732,8	K562	blood:
29	chr12:49759421..49761447-chr17:56735493..56738018,2	MCF-7	breast:
30	chr12:49759353..49761548-chr12:49931777..49934189,4	K562	blood:
31	chr12:49759353..49762276-chr12:49930939..49933731,4	K562	blood:
32	chr12:49759570..49762166-chr12:49852805..49855688,2	MCF-7	breast:
33	chr12:49739131..49745064-chr12:49758784..49762517,10	MCF-7	breast:
34	chr12:49740264..49744957-chr12:49759411..49762039,7	MCF-7	breast:
35	chr12:49730111..49734791-chr12:49758969..49762593,4	MCF-7	breast:

No data

Variant related genes	Relation type
SPATS2	TF binding region
ENSG00000187778	Chromatin interaction
ENSG00000153234	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000135519	Chromatin interaction
ENSG00000178401	Chromatin interaction
ENSG00000139190	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000257954	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000257913	Chromatin interaction
ENSG00000258334	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv3423651	chr12:49760110-49762658	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49759200-49760400	Flanking Active TSS	NHEK	skin
2	chr12:49759600-49760400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49759600-49760400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:49759600-49760400	Flanking Active TSS	K562	blood
5	chr12:49759600-49760600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:49759600-49762000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:49759600-49762000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:49759600-49762200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:49759600-49762600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:49759600-49762600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:49759600-49763000	Active TSS	A549	lung
12	chr12:49759800-49760400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:49759800-49760400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr12:49759800-49760400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:49759800-49760400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:49759800-49760400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr12:49759800-49760400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:49759800-49761000	Enhancers	Fetal Brain Male	brain
19	chr12:49759800-49761600	Active TSS	Placenta	Placenta
20	chr12:49759800-49761600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr12:49759800-49761600	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:49759800-49761800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr12:49759800-49761800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:49759800-49761800	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr12:49759800-49761800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:49759800-49761800	Active TSS	Hela-S3	cervix
27	chr12:49759800-49762000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:49759800-49762000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr12:49759800-49762000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:49759800-49762000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:49759800-49762200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:49759800-49762200	Active TSS	Colonic Mucosa	Colon
33	chr12:49759800-49762200	Active TSS	Fetal Intestine Large	intestine
34	chr12:49759800-49762400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:49759800-49762600	Active TSS	HSMM	muscle
36	chr12:49759800-49763200	Active TSS	GM12878-XiMat	blood
37	chr12:49759800-49764000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:49760000-49760400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:49760000-49760400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:49760000-49760400	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr12:49760000-49760400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr12:49760000-49760400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr12:49760000-49760400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:49760000-49760400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:49760000-49760400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:49760000-49760400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr12:49760000-49760400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:49760000-49760400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:49760000-49760400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr12:49760000-49760400	Flanking Active TSS	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links