Variant report

Variant	rs11121558
Chromosome Location	chr1:10449237-10449238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
2	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
3	chr1:10448474..10450056-chr1:10452189..10454390,3	K562	blood:
4	chr1:10440809..10443662-chr1:10447796..10449625,2	MCF-7	breast:
5	chr1:10440159..10442885-chr1:10447718..10449584,2	MCF-7	breast:
6	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
7	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11121540	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12088791	0.88[EUR][1000 genomes]
rs12093245	0.88[EUR][1000 genomes]
rs12096283	0.95[AFR][1000 genomes]
rs17034738	0.95[AFR][1000 genomes]
rs6669115	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
2	chr1:10439600-10458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:10440000-10451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10440000-10458400	Weak transcription	Lung	lung
5	chr1:10444800-10458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:10445600-10454000	Weak transcription	Fetal Brain Female	brain
7	chr1:10446400-10449600	Enhancers	Placenta	Placenta
8	chr1:10446400-10450400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:10446800-10449800	Enhancers	Fetal Intestine Small	intestine
10	chr1:10447000-10449600	Enhancers	Stomach Mucosa	stomach
11	chr1:10447000-10450000	Enhancers	Fetal Thymus	thymus
12	chr1:10447200-10449600	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:10447200-10449800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr1:10447200-10450000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:10447600-10449600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:10447800-10449600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:10447800-10454000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:10447800-10458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:10448200-10452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:10448200-10454200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:10448200-10458200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:10448200-10458200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:10448200-10458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:10448400-10450000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:10448400-10454400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:10448600-10449600	Enhancers	Hela-S3	cervix
27	chr1:10448600-10450000	Strong transcription	Brain Germinal Matrix	brain
28	chr1:10448600-10451200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:10448600-10453800	Weak transcription	Fetal Stomach	stomach
30	chr1:10448600-10454200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:10448600-10454800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:10448600-10458200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:10448600-10458200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:10448600-10458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:10448600-10458400	Weak transcription	HSMM	muscle
36	chr1:10448800-10449600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:10448800-10449600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:10448800-10449600	Genic enhancers	Brain Hippocampus Middle	brain
39	chr1:10448800-10449600	Enhancers	Esophagus	oesophagus
40	chr1:10448800-10449600	Enhancers	Pancreas	Pancrea
41	chr1:10448800-10449800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:10448800-10449800	Transcr. at gene 5' and 3'	A549	lung
43	chr1:10448800-10453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:10448800-10458200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:10448800-10458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:10448800-10458200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:10448800-10458200	Weak transcription	HUVEC	blood vessel
48	chr1:10448800-10458200	Weak transcription	NH-A	brain
49	chr1:10448800-10458200	Weak transcription	NHEK	skin
50	chr1:10449000-10449600	Enhancers	Duodenum Mucosa	Duodenum

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