Variant report

Variant	rs7123423
Chromosome Location	chr11:5661235-5661236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5658238..5662524-chr11:5663693..5667141,4	K562	blood:
2	11:5469844-5475173..11:5661051-5666977	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000196565	Chromatin interaction
ENSG00000187918	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16933760	1.00[EUR][1000 genomes]
rs6578667	1.00[EUR][1000 genomes]
rs7110703	1.00[EUR][1000 genomes]
rs7124421	1.00[EUR][1000 genomes]
rs7124516	1.00[EUR][1000 genomes]
rs7124885	1.00[EUR][1000 genomes]
rs7932400	1.00[EUR][1000 genomes]
rs7934944	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939149	0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5666800	Weak transcription	Fetal Brain Male	brain
2	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
3	chr11:5647400-5663000	Weak transcription	Aorta	Aorta
4	chr11:5647400-5663000	Weak transcription	Gastric	stomach
5	chr11:5647400-5663000	Weak transcription	Thymus	Thymus
6	chr11:5647400-5663400	Weak transcription	Esophagus	oesophagus
7	chr11:5647400-5664600	Weak transcription	Fetal Kidney	kidney
8	chr11:5647400-5667200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:5647400-5669400	Weak transcription	Right Ventricle	heart
10	chr11:5647400-5675600	Weak transcription	Pancreas	Pancrea
11	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:5647600-5662000	Weak transcription	NHDF-Ad	bronchial
13	chr11:5647600-5665600	Weak transcription	Stomach Mucosa	stomach
14	chr11:5647600-5665800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:5647600-5668000	Weak transcription	A549	lung
16	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:5648400-5663200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:5649200-5662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:5653200-5665400	Strong transcription	Primary T cells from cord blood	blood
21	chr11:5653600-5665800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:5654000-5665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:5654000-5666000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:5654000-5666000	Strong transcription	Primary B cells from cord blood	blood
25	chr11:5654000-5666400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:5654400-5666200	Strong transcription	Liver	Liver
27	chr11:5654400-5666200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:5654400-5666400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:5654600-5665600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:5654600-5666400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:5655400-5663000	Weak transcription	Lung	lung
32	chr11:5655600-5662400	Weak transcription	Small Intestine	intestine
33	chr11:5655800-5674200	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:5656200-5662400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:5656200-5662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:5656200-5663000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:5656200-5663400	Weak transcription	Left Ventricle	heart
38	chr11:5656200-5664600	Weak transcription	Spleen	Spleen
39	chr11:5656200-5667000	Weak transcription	NHLF	lung
40	chr11:5656200-5675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:5656400-5663000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:5656400-5663600	Weak transcription	Fetal Thymus	thymus
43	chr11:5656400-5663600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:5656400-5667000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:5656400-5684600	Weak transcription	Osteobl	bone
46	chr11:5656400-5688800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:5656800-5661400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:5656800-5662400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:5656800-5662600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:5656800-5663000	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links