Variant report

Variant	rs11834903
Chromosome Location	chr12:48229736-48229737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48229283-48229778	K562	blood:	n/a	n/a
2	USF2	chr12:48229630-48229763	Hela-S3	cervix:	n/a	n/a
3	UBTF	chr12:48229570-48229739	K562	blood:	n/a	n/a
4	TBP	chr12:48229507-48229835	K562	blood:	n/a	n/a
5	IRF1	chr12:48229463-48229936	K562	blood:	n/a	n/a
6	POLR2A	chr12:48225808-48231662	Raji	blood:	n/a	n/a
7	ARID3A	chr12:48229542-48229792	K562	blood:	n/a	n/a
8	JUND	chr12:48229519-48230013	K562	blood:	n/a	n/a
9	EP300	chr12:48229503-48229949	K562	blood:	n/a	n/a
10	POLR2A	chr12:48229327-48229880	ECC-1	luminal epithelium:	n/a	n/a
11	FOS	chr12:48229677-48229822	MCF10A-Er-Src	breast:	n/a	n/a
12	MAZ	chr12:48229394-48229877	K562	blood:	n/a	chr12:48229765-48229775
13	ESR1	chr12:48229457-48229892	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr12:48228013-48229849	K562	blood:	n/a	n/a
15	IRF1	chr12:48229446-48230099	K562	blood:	n/a	n/a
16	CUX1	chr12:48229583-48229952	K562	blood:	n/a	n/a
17	RCOR1	chr12:48229436-48229897	K562	blood:	n/a	n/a
18	UBTF	chr12:48229409-48230029	K562	blood:	n/a	n/a
19	MAX	chr12:48229357-48229999	NB4	blood:	n/a	chr12:48229765-48229775
20	HCFC1	chr12:48229607-48229755	K562	blood:	n/a	n/a
21	MYC	chr12:48229637-48229813	MCF10A-Er-Src	breast:	n/a	chr12:48229765-48229775
22	TBL1XR1	chr12:48229604-48229795	K562	blood:	n/a	n/a
23	POLR2A	chr12:48229354-48230223	MCF10A-Er-Src	breast:	n/a	n/a
24	MAZ	chr12:48229548-48229922	Hela-S3	cervix:	n/a	chr12:48229765-48229775
25	FOS	chr12:48229710-48229910	MCF10A-Er-Src	breast:	n/a	n/a
26	RCOR1	chr12:48229445-48230044	K562	blood:	n/a	n/a
27	TEAD4	chr12:48229436-48230105	ECC-1	luminal epithelium:	n/a	n/a
28	IRF1	chr12:48229462-48229807	K562	blood:	n/a	n/a
29	TBL1XR1	chr12:48229508-48229756	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48190112..48192409-chr12:48229121..48230735,2	K562	blood:
2	chr12:48123429..48125813-chr12:48228513..48231351,2	MCF-7	breast:
3	chr12:48165555..48170415-chr12:48229501..48233839,5	MCF-7	breast:
4	chr12:48221708..48225796-chr12:48227739..48231535,5	MCF-7	breast:
5	chr12:48228839..48231279-chr17:41399547..41401887,2	MCF-7	breast:
6	chr12:48226443..48228854-chr12:48229265..48230782,2	K562	blood:
7	chr12:48106768..48111603-chr12:48228919..48235371,6	MCF-7	breast:
8	chr12:48228405..48229977-chr12:48256176..48258937,2	K562	blood:
9	chr12:48227911..48229940-chr12:48244103..48245883,2	K562	blood:
10	chr12:48221263..48223966-chr12:48229426..48232725,3	MCF-7	breast:
11	chr12:48041265..48043377-chr12:48228501..48230073,2	K562	blood:

No data

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000061273	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000257488	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11168263	0.83[AMR][1000 genomes]
rs11574062	0.83[AMR][1000 genomes]
rs11574097	0.83[AMR][1000 genomes]
rs11574100	0.83[AMR][1000 genomes]
rs11574118	0.83[AMR][1000 genomes]
rs11574141	0.83[AMR][1000 genomes]
rs12299534	0.83[AMR][1000 genomes]
rs12308082	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48222200-48229800	Enhancers	Primary B cells from cord blood	blood
2	chr12:48223400-48229800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:48223400-48232200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:48223400-48236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:48223400-48237000	Weak transcription	Colonic Mucosa	Colon
6	chr12:48223600-48231200	Weak transcription	A549	lung
7	chr12:48223600-48231800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:48223600-48237000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:48223600-48238600	Weak transcription	Right Atrium	heart
10	chr12:48223600-48239800	Weak transcription	Gastric	stomach
11	chr12:48224200-48232200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:48224200-48232600	Weak transcription	Psoas Muscle	Psoas
13	chr12:48224200-48238400	Weak transcription	NHDF-Ad	bronchial
14	chr12:48224600-48229800	Weak transcription	Right Ventricle	heart
15	chr12:48224600-48238000	Weak transcription	Esophagus	oesophagus
16	chr12:48225400-48231800	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:48225600-48231800	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:48225800-48230400	Enhancers	Fetal Muscle Leg	muscle
19	chr12:48225800-48231800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:48226000-48230000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:48226000-48230000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:48226000-48231400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:48226800-48231000	Enhancers	GM12878-XiMat	blood
24	chr12:48227000-48230400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:48227000-48233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:48227200-48232400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:48227200-48232400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:48227200-48261200	Weak transcription	HSMM	muscle
29	chr12:48227400-48230200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:48227400-48232000	Enhancers	Primary T cells from cord blood	blood
31	chr12:48227600-48231800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:48227600-48237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:48227800-48229800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:48227800-48232200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:48227800-48233400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:48228000-48229800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:48228000-48230000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:48228000-48230200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:48228200-48230000	Enhancers	Fetal Intestine Small	intestine
40	chr12:48228200-48230600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:48228200-48232800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:48228800-48230000	Enhancers	Fetal Heart	heart
43	chr12:48228800-48230000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr12:48228800-48230200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:48228800-48230200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:48228800-48230400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:48228800-48230400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:48228800-48230600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:48228800-48230600	Enhancers	HMEC	breast
50	chr12:48228800-48231000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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