Variant report

Variant	rs11801044
Chromosome Location	chr1:165566610-165566611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:165566515-165568300	SK-N-SH	brain:	n/a	chr1:165567420-165567435 chr1:165567422-165567437
2	SPI1	chr1:165566565-165566789	GM12878	blood:	n/a	chr1:165566676-165566689

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:

Variant related genes	Relation type
ENSG00000236206	TF binding region
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10800127	1.00[CHB][hapmap]
rs11506	1.00[CHB][hapmap]
rs11800476	1.00[CHB][hapmap]
rs11801981	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11802672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803276	1.00[ASN][1000 genomes]
rs11806754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847544	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs172258	1.00[CEU][hapmap]
rs57256442	0.89[ASN][1000 genomes]
rs58045866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59033716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61557603	0.89[ASN][1000 genomes]
rs61804068	0.89[ASN][1000 genomes]
rs61804069	0.89[ASN][1000 genomes]
rs6666914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6682771	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6695758	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72696026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550682	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429902	chr1:165531342-165574342	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165547400-165566800	Weak transcription	Psoas Muscle	Psoas
2	chr1:165565200-165566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:165566600-165566800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:165566600-165566800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:165566600-165566800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr1:165566600-165566800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr1:165566600-165566800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr1:165566600-165566800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
9	chr1:165566600-165566800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:165566600-165566800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:165566600-165566800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
12	chr1:165566600-165566800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:165566600-165566800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:165566600-165566800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:165566600-165566800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:165566600-165566800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:165566600-165566800	Enhancers	Adipose Nuclei	Adipose
18	chr1:165566600-165566800	Enhancers	Brain Germinal Matrix	brain
19	chr1:165566600-165566800	Enhancers	Colonic Mucosa	Colon
20	chr1:165566600-165566800	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:165566600-165566800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:165566600-165566800	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:165566600-165566800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:165566600-165566800	Bivalent Enhancer	Dnd41	blood
25	chr1:165566600-165566800	Enhancers	HSMM	muscle
26	chr1:165566600-165566800	Enhancers	HUVEC	blood vessel
27	chr1:165566600-165566800	Enhancers	K562	blood
28	chr1:165566600-165566800	Enhancers	NHDF-Ad	bronchial
29	chr1:165566600-165566800	Enhancers	NHEK	skin
30	chr1:165566600-165566800	Enhancers	NHLF	lung
31	chr1:165566600-165566800	Enhancers	Osteobl	bone
32	chr1:165566600-165567000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:165566600-165567000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:165566600-165567000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:165566600-165567000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr1:165566600-165567000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:165566600-165567000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:165566600-165567000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:165566600-165567000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:165566600-165567000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:165566600-165567000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:165566600-165567000	Enhancers	Aorta	Aorta
43	chr1:165566600-165567000	Enhancers	Brain Hippocampus Middle	brain
44	chr1:165566600-165567000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:165566600-165567000	Enhancers	Fetal Muscle Leg	muscle
46	chr1:165566600-165567000	Flanking Active TSS	GM12878-XiMat	blood
47	chr1:165566600-165567000	Flanking Active TSS	NH-A	brain
48	chr1:165566600-165567200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:165566600-165567200	Bivalent Enhancer	Fetal Thymus	thymus
50	chr1:165566600-165567200	Flanking Active TSS	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links