Variant report

Variant	rs2284449
Chromosome Location	chr11:4120849-4120850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:4120754-4121114	K562	blood:	n/a	n/a
2	POLR2A	chr11:4120557-4121028	K562	blood:	n/a	n/a
3	EBF1	chr11:4120717-4121079	GM12878	blood:	n/a	chr11:4120846-4120857
4	POLR2A	chr11:4120660-4122509	K562	blood:	n/a	n/a
5	POLR2A	chr11:4120786-4121073	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:4120637-4120936	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4118572..4121110-chr11:4127207..4129203,2	K562	blood:
2	chr11:4116202..4117899-chr11:4118829..4121335,2	MCF-7	breast:
3	chr11:4118205..4121110-chr11:4126914..4129955,3	K562	blood:
4	chr11:3705048..3707585-chr11:4118303..4120939,2	K562	blood:
5	chr11:4114516..4119119-chr11:4119320..4122421,8	K562	blood:
6	chr11:4114516..4118387-chr11:4119644..4122728,6	K562	blood:
7	chr11:4117924..4121571-chr11:4122860..4124784,4	K562	blood:
8	chr11:4114917..4118185-chr11:4119750..4123058,4	MCF-7	breast:

No data

Variant related genes	Relation type
RRM1	TF binding region
ENSG00000167325	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10458900	0.82[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10500592	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11030697	0.82[CHB][hapmap]
rs11030796	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs11030942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11030948	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11030975	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11031004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11031106	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1372803	0.82[CHB][hapmap]
rs16929410	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16929438	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs16929467	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs16929477	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs16929480	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs16929488	0.82[CHB][hapmap]
rs16929492	0.82[CHB][hapmap]
rs1822286	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2268165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750994	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4910878	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs55680570	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56140937	0.81[ASN][1000 genomes]
rs61897254	0.81[ASN][1000 genomes]
rs61897257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61897259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61899662	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs720106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7934581	0.86[JPT][hapmap]
rs894454	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117000-4124600	Weak transcription	Aorta	Aorta
2	chr11:4117000-4124600	Weak transcription	Left Ventricle	heart
3	chr11:4117000-4137200	Weak transcription	Esophagus	oesophagus
4	chr11:4117000-4141000	Weak transcription	Ovary	ovary
5	chr11:4117200-4126800	Weak transcription	Psoas Muscle	Psoas
6	chr11:4117200-4127400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:4117200-4142200	Weak transcription	Colonic Mucosa	Colon
8	chr11:4117400-4124200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:4117400-4124600	Weak transcription	Lung	lung
10	chr11:4117400-4124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:4117400-4125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:4117400-4141800	Weak transcription	Small Intestine	intestine
13	chr11:4117600-4121400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:4117600-4121600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr11:4117600-4122400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:4117600-4123000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:4117600-4123000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:4117600-4123200	Weak transcription	Placenta	Placenta
19	chr11:4117600-4123400	Weak transcription	Adipose Nuclei	Adipose
20	chr11:4117600-4123800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:4117600-4124000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:4117600-4124000	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:4117600-4124200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:4117600-4124600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:4117600-4124800	Weak transcription	Fetal Intestine Small	intestine
26	chr11:4117600-4125200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:4117600-4125800	Weak transcription	Liver	Liver
28	chr11:4117600-4126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:4117600-4126400	Weak transcription	Fetal Intestine Large	intestine
30	chr11:4117600-4126600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:4117600-4126600	Weak transcription	Spleen	Spleen
32	chr11:4117600-4127000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:4117600-4127000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:4117600-4127200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:4117600-4127200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:4117600-4128600	Weak transcription	Brain Substantia Nigra	brain
37	chr11:4117600-4129200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:4117600-4129800	Weak transcription	Fetal Heart	heart
39	chr11:4117600-4133000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:4117600-4137400	Weak transcription	Right Ventricle	heart
41	chr11:4117600-4144600	Weak transcription	HSMMtube	muscle
42	chr11:4117600-4145200	Weak transcription	Gastric	stomach
43	chr11:4117600-4153000	Weak transcription	Stomach Mucosa	stomach
44	chr11:4117800-4121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:4117800-4121400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr11:4117800-4123000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:4117800-4123000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:4117800-4123200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:4117800-4123200	Weak transcription	Osteobl	bone
50	chr11:4117800-4124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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