Variant report

Variant	rs11168871
Chromosome Location	chr12:49520649-49520650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:162)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:162 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:49520486-49521442	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:49520448-49521670	GM18951	blood:	n/a	n/a
3	PBX3	chr12:49520445-49521537	A549	lung:	n/a	n/a
4	TEAD4	chr12:49520453-49521657	K562	blood:	n/a	n/a
5	POLR2A	chr12:49519512-49521891	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:49520435-49522737	GM12891	blood:	n/a	n/a
7	RUNX3	chr12:49520587-49521362	GM12878	blood:	n/a	n/a
8	TEAD4	chr12:49520574-49521349	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:49519904-49522443	HUVEC	blood vessel:	n/a	n/a
10	TCF12	chr12:49520405-49521636	A549	lung:	n/a	n/a
11	SP1	chr12:49520506-49521534	A549	lung:	n/a	chr12:49521366-49521375
12	BCLAF1	chr12:49520585-49521526	K562	blood:	n/a	n/a
13	FOXM1	chr12:49520326-49521407	GM12878	blood:	n/a	n/a
14	BCL11A	chr12:49520460-49521017	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:49520393-49521863	K562	blood:	n/a	n/a
16	STAT5A	chr12:49520323-49521651	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:49520005-49522430	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:49520393-49521757	GM19099	blood:	n/a	n/a
19	PML	chr12:49520441-49521194	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:49520388-49522423	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:49520626-49521821	K562	blood:	n/a	n/a
22	POLR2A	chr12:49520478-49521595	MCF10A-Er-Src	breast:	n/a	n/a
23	BCL3	chr12:49520437-49521510	A549	lung:	n/a	n/a
24	PML	chr12:49520529-49521822	K562	blood:	n/a	n/a
25	POLR2A	chr12:49520248-49522528	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:49520170-49522430	SK-N-SH	brain:	n/a	n/a
27	TBL1XR1	chr12:49520570-49521563	K562	blood:	n/a	n/a
28	POLR2A	chr12:49520190-49520661	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr12:49520324-49521925	K562	blood:	n/a	n/a
30	STAT5A	chr12:49520551-49521860	K562	blood:	n/a	n/a
31	POLR2A	chr12:49519438-49525993	GM12892	blood:	n/a	n/a
32	POLR2A	chr12:49520336-49522367	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr12:49520518-49521850	K562	blood:	n/a	n/a
34	POLR2A	chr12:49520570-49521270	ProgFib	skin:	n/a	n/a
35	ELF1	chr12:49520323-49520678	GM12878	blood:	n/a	n/a
36	NFATC1	chr12:49520339-49521553	GM12878	blood:	n/a	n/a
37	FOXM1	chr12:49520386-49521481	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr12:49520409-49521396	A549	lung:	n/a	n/a
39	POLR2A	chr12:49520504-49521739	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:49520441-49520689	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:49520413-49521859	K562	blood:	n/a	n/a
42	POLR2A	chr12:49520438-49521753	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:49520429-49522275	SK-N-SH	brain:	n/a	n/a
44	HEY1	chr12:49520325-49525632	K562	blood:	n/a	chr12:49525016-49525031 chr12:49523999-49524014 chr12:49525182-49525197
45	POLR2A	chr12:49520242-49523256	U87	brain:	n/a	n/a
46	POLR2A	chr12:49520629-49521766	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr12:49520250-49521840	HL-60	blood:	n/a	n/a
48	PML	chr12:49520348-49521925	K562	blood:	n/a	n/a
49	SIN3AK20	chr12:49520343-49521542	SK-N-SH	brain:	n/a	n/a
50	POU2F2	chr12:49520600-49522729	GM12878	blood:	n/a	chr12:49521264-49521285

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49520648-49520698	AG10803	skin:	n/a
2	chr12:49520648-49520698	Jurkat	blood:	n/a
3	chr12:49520648-49520698	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:49520648-49520698	AoSMC	blood vessel:	n/a
5	chr12:49520648-49520698	HIPEpiC	eye:	n/a
6	chr12:49520648-49520698	Caco-2	colon:	n/a
7	chr12:49520648-49520698	GM12878	blood:	n/a
8	chr12:49520648-49520698	PANC-1	pancreas:	n/a
9	chr12:49520648-49520698	GM06990	blood:	n/a
10	chr12:49520648-49520698	HEK293	kidney:	embryo
11	chr12:49520648-49520698	ECC-1	luminal epithelium:	n/a
12	chr12:49520648-49520698	HL-60	blood:	n/a
13	chr12:49520648-49520698	GM19239	blood:	n/a
14	chr12:49520648-49520698	HepG2	liver:	n/a
15	chr12:49520648-49520698	SK-N-SH	brain:	n/a
16	chr12:49520648-49520698	A549	lung:	n/a
17	chr12:49520648-49520698	Hepatocyte	liver:	n/a
18	chr12:49520648-49520698	AG04449	skin:	fetal
19	chr12:49520648-49520698	HCM	heart:	n/a
20	chr12:49520648-49520698	SK-N-SH_RA	brain:	n/a
21	chr12:49520648-49520698	HCT-116	colon:	n/a
22	chr12:49520648-49520698	HRPEpiC	eye:	n/a
23	chr12:49520648-49520698	ovcar-3	ovarian:	n/a
24	chr12:49520648-49520698	HMEC	breast:	n/a
25	chr12:49520648-49520698	Hela-S3	cervix:	n/a
26	chr12:49520648-49520698	HCF	heart:	n/a
27	chr12:49520648-49520698	PFSK-1	brain:	n/a
28	chr12:49520648-49520698	T-47D	breast:	n/a
29	chr12:49520648-49520698	GM12891	blood:	n/a
30	chr12:49520648-49520698	HCPEpiC	choroid plexus:	n/a
31	chr12:49520648-49520698	NHDF-neo	bronchial:	n/a
32	chr12:49520648-49520698	SKMC	muscle:	n/a
33	chr12:49520648-49520698	MCF10A-Er-Src	breast:	n/a
34	chr12:49520648-49520698	LNCaP	prostate:	n/a
35	chr12:49520648-49520698	AG04450	lung:	fetal
36	chr12:49520648-49520698	RPTEC	kidney:	n/a
37	chr12:49520648-49520698	NHBE	bronchial:	n/a
38	chr12:49520648-49520698	HAEpiC	amniotic membrane:	n/a
39	chr12:49520648-49520698	AG09319	gingival:	n/a
40	chr12:49520648-49520698	BE2_C	brain:	n/a
41	chr12:49520648-49520698	U87	brain:	n/a
42	chr12:49520648-49520698	NH-A	brain:	n/a
43	chr12:49520648-49520698	HUVEC	blood vessel:	n/a
44	chr12:49520648-49520698	ProgFib	skin:	n/a
45	chr12:49520648-49520698	NB4	blood:	n/a
46	chr12:49520648-49520698	HNPCEpiC	eye:	n/a
47	chr12:49520648-49520698	H1-hESC	embryonic stem cell:	embryo
48	chr12:49520648-49520698	SK-N-MC	brain:	n/a
49	chr12:49520648-49520698	CMK	blood:	n/a
50	chr12:49520648-49520698	PrEC	prostate:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
2	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
3	chr12:49520168..49522237-chr12:49581015..49583384,2	K562	blood:
4	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
5	chr12:49514986..49517722-chr12:49518841..49521074,3	MCF-7	breast:
6	chr12:49514836..49519049-chr12:49519208..49521265,5	MCF-7	breast:
7	chr12:49519269..49521394-chr12:49569620..49571332,2	K562	blood:
8	chr12:49503635..49505566-chr12:49518562..49521421,3	MCF-7	breast:
9	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
10	chr12:49454519..49456146-chr12:49518450..49520745,2	MCF-7	breast:
11	chr12:49481723..49485881-chr12:49518387..49522804,4	MCF-7	breast:
12	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
13	chr12:49519914..49528393-chr12:49656527..49662615,75	K562	blood:
14	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:
15	chr12:49493937..49507579-chr12:49519161..49528577,46	K562	blood:
16	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
17	chr12:49457477..49459224-chr12:49518339..49520842,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258017	TF binding region
ENSG00000258017	CpG island
ENSG00000139549	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000167552	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11168855	1.00[AMR][1000 genomes]
rs11168858	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11168898	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs11168923	1.00[MEX][hapmap]
rs12298540	1.00[AMR][1000 genomes]
rs12301841	1.00[AMR][1000 genomes]
rs12308383	1.00[AMR][1000 genomes]
rs12309311	1.00[AMR][1000 genomes]
rs12311604	1.00[AMR][1000 genomes]
rs12314634	1.00[AMR][1000 genomes]
rs12314888	1.00[AMR][1000 genomes]
rs12315823	1.00[MEX][hapmap]
rs12318907	1.00[AMR][1000 genomes]
rs12320695	1.00[AMR][1000 genomes]
rs12321116	1.00[CEU][hapmap]
rs17123645	1.00[MEX][hapmap]
rs59178045	1.00[AMR][1000 genomes]
rs61539002	0.83[AMR][1000 genomes]
rs61557154	1.00[AMR][1000 genomes]
rs73304131	1.00[AMR][1000 genomes]
rs7952771	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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49505400-49521000	Weak transcription	Spleen	Spleen
2	chr12:49511600-49520800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49511600-49521000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:49513600-49520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:49515000-49520800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:49515000-49520800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:49515000-49520800	Weak transcription	Adipose Nuclei	Adipose
8	chr12:49515000-49520800	Weak transcription	Colonic Mucosa	Colon
9	chr12:49515000-49520800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:49515000-49520800	Weak transcription	Fetal Kidney	kidney
11	chr12:49515000-49520800	Weak transcription	Left Ventricle	heart
12	chr12:49515000-49520800	Weak transcription	Pancreas	Pancrea
13	chr12:49515000-49520800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:49515000-49520800	Weak transcription	HSMM	muscle
15	chr12:49515000-49520800	Weak transcription	HUVEC	blood vessel
16	chr12:49515000-49520800	Weak transcription	K562	blood
17	chr12:49515000-49520800	Weak transcription	NHLF	lung
18	chr12:49515000-49521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:49515000-49521000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:49515000-49521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:49515000-49521200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:49515000-49521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:49515000-49521200	Weak transcription	Liver	Liver
24	chr12:49515000-49521600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:49515000-49522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:49515000-49522800	Weak transcription	Stomach Mucosa	stomach
27	chr12:49515200-49520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:49515200-49520800	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:49515200-49521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:49515200-49521000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:49515200-49521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:49515200-49521000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:49515200-49521000	Weak transcription	HepG2	liver
34	chr12:49515200-49522800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:49515400-49520800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:49515400-49520800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:49515400-49520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:49515400-49520800	Weak transcription	Brain Anterior Caudate	brain
39	chr12:49515400-49520800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:49515400-49520800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:49515400-49520800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:49515400-49520800	Weak transcription	A549	lung
43	chr12:49515400-49520800	Weak transcription	NHDF-Ad	bronchial
44	chr12:49515400-49520800	Weak transcription	Osteobl	bone
45	chr12:49515400-49521200	Weak transcription	Hela-S3	cervix
46	chr12:49516800-49520800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:49517400-49520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:49518000-49521000	Weak transcription	Fetal Intestine Small	intestine
49	chr12:49518400-49520800	Weak transcription	Brain Substantia Nigra	brain
50	chr12:49518400-49520800	Weak transcription	Placenta Amnion	Placenta Amnion

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