Variant report

Variant	rs11497313
Chromosome Location	chr12:123962437-123962438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123961515..123963818-chr12:123967365..123970564,3	K562	blood:
2	chr12:123942477..123944445-chr12:123961035..123963054,2	K562	blood:
3	chr12:123956134..123958285-chr12:123959076..123962639,4	K562	blood:
4	chr12:123961557..123965005-chr12:123968810..123972226,4	MCF-7	breast:
5	chr12:123960921..123963126-chr12:124005515..124007518,2	K562	blood:

Variant related genes	Relation type
ENSG00000184209	Chromatin interaction
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11497308	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11497312	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11507739	1.00[ASN][1000 genomes]
rs11507744	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11516176	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11516178	1.00[ASN][1000 genomes]
rs11522340	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11534428	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559494	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11560820	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13303266	1.00[ASN][1000 genomes]
rs13303358	1.00[ASN][1000 genomes]
rs28483351	1.00[ASN][1000 genomes]
rs28613273	1.00[ASN][1000 genomes]
rs28728075	1.00[ASN][1000 genomes]
rs28829651	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087496	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34031619	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322317	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4047517	1.00[ASN][1000 genomes]
rs4078291	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479070	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6606747	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300562	1.00[ASN][1000 genomes]
rs7315901	1.00[ASN][1000 genomes]
rs73412280	1.00[ASN][1000 genomes]
rs7975636	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978323	1.00[ASN][1000 genomes]
rs9330649	1.00[ASN][1000 genomes]
rs9330650	1.00[ASN][1000 genomes]
rs9697264	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697459	1.00[ASN][1000 genomes]
rs9697616	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697628	1.00[ASN][1000 genomes]
rs9697735	1.00[ASN][1000 genomes]
rs9723046	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9723192	1.00[ASN][1000 genomes]
rs9777813	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9778112	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers 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 miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers 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	14 gene(s)	inside rSNPs	diseases
5	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123944800-123964600	Weak transcription	Small Intestine	intestine
4	chr12:123945800-123965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:123946000-123965600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:123947600-123971800	Strong transcription	Fetal Intestine Small	intestine
7	chr12:123948200-123962800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:123949000-123966200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:123950000-123963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:123950400-123973000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
13	chr12:123953800-123968200	Weak transcription	GM12878-XiMat	blood
14	chr12:123954200-123964600	Strong transcription	Fetal Lung	lung
15	chr12:123954200-123971000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:123955200-123971000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:123956000-123965600	Strong transcription	Fetal Brain Female	brain
18	chr12:123956800-123963200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:123956800-123964400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:123956800-123973400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:123956800-123993400	Weak transcription	HMEC	breast
22	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
23	chr12:123957000-123966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:123957200-123965000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:123957400-123963200	Weak transcription	Gastric	stomach
26	chr12:123957400-123965000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:123957400-123965200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:123957400-123968200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:123957400-123968400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:123957400-123972800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:123957400-123973000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:123957400-123982400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:123957600-123962800	Weak transcription	Esophagus	oesophagus
36	chr12:123957600-123962800	Weak transcription	HUVEC	blood vessel
37	chr12:123957600-123963000	Weak transcription	Brain Substantia Nigra	brain
38	chr12:123957600-123963200	Weak transcription	Ovary	ovary
39	chr12:123957600-123963200	Weak transcription	NHDF-Ad	bronchial
40	chr12:123957600-123964200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:123957600-123964200	Weak transcription	Fetal Thymus	thymus
42	chr12:123957600-123965200	Weak transcription	K562	blood
43	chr12:123957600-123967800	Weak transcription	Dnd41	blood
44	chr12:123957600-123968200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
46	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:123957800-123962800	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:123957800-123967600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:123957800-123982600	Weak transcription	A549	lung
50	chr12:123959000-123970400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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