Variant report

Variant	rs12829682
Chromosome Location	chr12:49319036-49319037
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	chr12:49318443-49319168	H1-hESC	embryonic stem cell:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
2	ELF1	chr12:49318291-49319474	GM12878	blood:	n/a	n/a
3	CTCF	chr12:49318900-49319050	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:49318295-49319719	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:49318876-49319438	Hela-S3	cervix:	n/a	n/a
6	RUNX3	chr12:49318943-49319509	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:49318179-49319816	GM12892	blood:	n/a	n/a
8	RELA	chr12:49318165-49319537	GM19193	blood:	n/a	chr12:49318256-49318265 chr12:49318256-49318265
9	POLR2A	chr12:49318846-49319518	ProgFib	skin:	n/a	n/a
10	ZBTB7A	chr12:49318276-49319617	ECC-1	luminal epithelium:	n/a	n/a
11	TAF1	chr12:49318407-49319544	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:49318294-49319845	MCF-7	breast:	n/a	n/a
13	NR3C1	chr12:49318940-49319719	A549	lung:	n/a	chr12:49319684-49319691 chr12:49319219-49319232
14	NFATC1	chr12:49318987-49319676	GM12878	blood:	n/a	n/a
15	MAX	chr12:49318314-49319133	ECC-1	luminal epithelium:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
16	POLR2A	chr12:49318723-49319592	PFSK-1	brain:	n/a	n/a
17	MAX	chr12:49318264-49319714	A549	lung:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
18	POU2F2	chr12:49318814-49319479	GM12891	blood:	n/a	n/a
19	POLR2A	chr12:49318808-49319621	HL-60	blood:	n/a	n/a
20	POLR2A	chr12:49318967-49319474	K562	blood:	n/a	n/a
21	POLR2A	chr12:49318491-49319551	GM10847	blood:	n/a	n/a
22	POLR2A	chr12:49318182-49319869	GM12892	blood:	n/a	n/a
23	RXRA	chr12:49319021-49319292	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr12:49318401-49319081	H1-hESC	embryonic stem cell:	n/a	chr12:49318746-49318755
25	FOXM1	chr12:49318829-49319666	GM12878	blood:	n/a	n/a
26	SIN3A	chr12:49318365-49319780	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:49318390-49319574	GM15510	blood:	n/a	n/a
28	STAT5A	chr12:49318066-49319746	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:49318783-49319618	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr12:49318815-49319528	MCF-7	breast:	n/a	n/a
31	CHD2	chr12:49318448-49319687	GM12878	blood:	n/a	n/a
32	FOXM1	chr12:49318349-49319560	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:49317828-49319985	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:49318352-49319741	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:49318419-49319559	GM18526	blood:	n/a	n/a
36	ATF2	chr12:49318910-49319625	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:49318270-49319815	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:49318287-49319692	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:49318272-49319694	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:49318878-49319485	U87	brain:	n/a	n/a
41	SPI1	chr12:49318841-49319080	GM12878	blood:	n/a	chr12:49318982-49318995 chr12:49318985-49318992
42	MAX	chr12:49318272-49319752	H1-hESC	embryonic stem cell:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
43	CREB1	chr12:49318409-49319687	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:49318366-49319579	GM19193	blood:	n/a	n/a
45	POLR2A	chr12:49318796-49319832	GM12891	blood:	n/a	n/a
46	MAX	chr12:49318485-49319209	A549	lung:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
47	POLR2A	chr12:49318406-49319536	GM12891	blood:	n/a	n/a
48	BCL3	chr12:49318435-49319676	A549	lung:	n/a	n/a
49	BCL3	chr12:49318891-49319491	GM12878	blood:	n/a	n/a
50	MYC	chr12:49318177-49319865	A549	lung:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49318998-49319048	RPTEC	kidney:	n/a
2	chr12:49318998-49319048	BE2_C	brain:	n/a
3	chr12:49318998-49319048	HCF	heart:	n/a
4	chr12:49318998-49319048	SKMC	muscle:	n/a
5	chr12:49318998-49319048	HCT-116	colon:	n/a
6	chr12:49318998-49319048	AG09319	gingival:	n/a
7	chr12:49318998-49319048	T-47D	breast:	n/a
8	chr12:49318998-49319048	BJ	skin:	n/a
9	chr12:49318998-49319048	K562	blood:	n/a
10	chr12:49318998-49319048	NH-A	brain:	n/a
11	chr12:49318998-49319048	CMK	blood:	n/a
12	chr12:49318998-49319048	GM12892	blood:	n/a
13	chr12:49318998-49319048	HCM	heart:	n/a
14	chr12:49318998-49319048	Hepatocyte	liver:	n/a
15	chr12:49318998-49319048	Caco-2	colon:	n/a
16	chr12:49318998-49319048	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:49318998-49319048	NHBE	bronchial:	n/a
18	chr12:49318998-49319048	AG10803	skin:	n/a
19	chr12:49318998-49319048	MCF10A-Er-Src	breast:	n/a
20	chr12:49318998-49319048	HMEC	breast:	n/a
21	chr12:49318998-49319048	SK-N-SH_RA	brain:	n/a
22	chr12:49318998-49319048	PFSK-1	brain:	n/a
23	chr12:49318998-49319048	IMR90	lung:	fetal
24	chr12:49318998-49319048	AG04449	skin:	fetal
25	chr12:49318998-49319048	GM19239	blood:	n/a
26	chr12:49318998-49319048	HUVEC	blood vessel:	n/a
27	chr12:49318998-49319048	H1-hESC	embryonic stem cell:	embryo
28	chr12:49318998-49319048	ProgFib	skin:	n/a
29	chr12:49318998-49319048	HCPEpiC	choroid plexus:	n/a
30	chr12:49318998-49319048	HEEpiC	esophagus:	n/a
31	chr12:49318998-49319048	PANC-1	pancreas:	n/a
32	chr12:49318998-49319048	PrEC	prostate:	n/a
33	chr12:49318998-49319048	LNCaP	prostate:	n/a
34	chr12:49318998-49319048	GM12878	blood:	n/a
35	chr12:49318998-49319048	HNPCEpiC	eye:	n/a
36	chr12:49318998-49319048	NT2-D1	testis:	n/a
37	chr12:49318998-49319048	HEK293	kidney:	embryo
38	chr12:49318998-49319048	SK-N-SH	brain:	n/a
39	chr12:49318998-49319048	GM12891	blood:	n/a
40	chr12:49318998-49319048	MCF-7	breast:	n/a
41	chr12:49318998-49319048	HRPEpiC	eye:	n/a
42	chr12:49318998-49319048	HRE	kidney:	n/a
43	chr12:49318998-49319048	HAEpiC	amniotic membrane:	n/a
44	chr12:49318998-49319048	AG09309	skin:	n/a
45	chr12:49318998-49319048	HepG2	liver:	n/a
46	chr12:49318998-49319048	HL-60	blood:	n/a
47	chr12:49318998-49319048	A549	lung:	n/a
48	chr12:49318998-49319048	Jurkat	blood:	n/a
49	chr12:49318998-49319048	GM06990	blood:	n/a
50	chr12:49318998-49319048	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49211386..49213758-chr12:49317822..49319346,2	MCF-7	breast:
2	chr12:49318968..49320565-chr12:49363213..49364979,2	MCF-7	breast:
3	chr12:49316917..49319846-chr12:49321799..49325494,4	K562	blood:
4	chr12:49317412..49320697-chr12:49349793..49352537,4	MCF-7	breast:
5	chr12:49318409..49320473-chr12:49386787..49389154,2	MCF-7	breast:
6	chr12:49257454..49260772-chr12:49317154..49320539,3	MCF-7	breast:
7	chr12:49245963..49247751-chr12:49317835..49320703,2	MCF-7	breast:
8	chr12:49258143..49260662-chr12:49316104..49319150,3	MCF-7	breast:

Variant related genes	Relation type
FKBP11	TF binding region
FKBP11	CpG island
ENSG00000174243	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000169884	Chromatin interaction
ENSG00000201678	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000272822	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11168810	0.86[EUR][1000 genomes]
rs12122	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2694841	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs41291977	1.00[EUR][1000 genomes]
rs708242	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71464944	0.86[EUR][1000 genomes]
rs7305811	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs833823	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs833829	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs833834	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs833835	0.86[EUR][1000 genomes]
rs941193	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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 target site	87 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49315800-49321000	Weak transcription	K562	blood
4	chr12:49317200-49319400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:49317800-49319400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:49317800-49319400	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr12:49318000-49319400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:49318000-49319400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:49318000-49319400	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:49318000-49319800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:49318200-49319200	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:49318200-49319400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:49318200-49319400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
14	chr12:49318200-49319400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:49318200-49319400	Active TSS	Gastric	stomach
16	chr12:49318200-49319600	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr12:49318200-49319800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:49318200-49319800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:49318200-49319800	Active TSS	Right Ventricle	heart
20	chr12:49318400-49319200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr12:49318400-49319200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:49318400-49319200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:49318400-49319200	Active TSS	Pancreas	Pancrea
24	chr12:49318400-49319200	Active TSS	Placenta Amnion	Placenta Amnion
25	chr12:49318400-49319400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:49318400-49319400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:49318400-49319400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:49318400-49319400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr12:49318400-49319400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:49318400-49319400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:49318400-49319400	Active TSS	Primary B cells from cord blood	blood
32	chr12:49318400-49319400	Active TSS	Primary hematopoietic stem cells	blood
33	chr12:49318400-49319400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr12:49318400-49319400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:49318400-49319400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:49318400-49319400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:49318400-49319400	Active TSS	Brain Angular Gyrus	brain
38	chr12:49318400-49319400	Active TSS	Brain Substantia Nigra	brain
39	chr12:49318400-49319400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:49318400-49319400	Active TSS	Esophagus	oesophagus
41	chr12:49318400-49319400	Active TSS	Fetal Intestine Large	intestine
42	chr12:49318400-49319400	Active TSS	Fetal Intestine Small	intestine
43	chr12:49318400-49319400	Active TSS	Ovary	ovary
44	chr12:49318400-49319400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:49318400-49319400	Active TSS	Thymus	Thymus
46	chr12:49318400-49319400	Active TSS	GM12878-XiMat	blood
47	chr12:49318400-49319400	Active TSS	Hela-S3	cervix
48	chr12:49318400-49319400	Active TSS	HSMMtube	muscle
49	chr12:49318400-49319400	Active TSS	NHDF-Ad	bronchial
50	chr12:49318400-49319600	Active TSS	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links