Variant report

Variant	rs7924718
Chromosome Location	chr11:46330983-46330984
allele	G/T
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	JUN	chr11:46330838-46331876	K562	blood:	n/a	n/a
2	CTCF	chr11:46329696-46331237	A549	lung:	n/a	chr11:46330269-46330287 chr11:46330271-46330284 chr11:46330264-46330285 chr11:46330275-46330284 chr11:46330621-46330630

No.	Distal block	Cell Line	Cell type
1	chr11:46317049..46320167-chr11:46328612..46332457,5	K562	blood:
2	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
3	chr11:46259368..46261426-chr11:46329775..46331034,13	K562	blood:
4	chr11:46292956..46294811-chr11:46329536..46331821,2	MCF-7	breast:
5	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
6	chr11:45933406..45935188-chr11:46330221..46332088,2	K562	blood:
7	chr11:46329128..46331454-chr11:46367037..46368744,2	K562	blood:
8	chr11:46330662..46333267-chr11:46335331..46337838,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L1	TF binding region
ENSG00000254639	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11038851	0.80[ASW][hapmap];0.82[GIH][hapmap]
rs11038863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286778	0.84[GIH][hapmap];0.82[YRI][hapmap]
rs2303435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4625425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61882671	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882672	0.93[ASN][1000 genomes]
rs61885566	1.00[ASN][1000 genomes]
rs6485676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7102330	0.81[ASN][1000 genomes]
rs7929630	0.80[ASN][1000 genomes]
rs9704813	0.87[ASN][1000 genomes]
rs9988792	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7924718	KRR1	trans	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
2	chr11:46319200-46342000	Weak transcription	Ovary	ovary
3	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:46321400-46331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:46321400-46340200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
7	chr11:46325400-46331000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:46326400-46335400	Strong transcription	Gastric	stomach
9	chr11:46328000-46331400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:46328200-46334800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr11:46328600-46331400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:46328600-46331800	Enhancers	Fetal Thymus	thymus
13	chr11:46328600-46333400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:46328600-46334600	Strong transcription	Pancreas	Pancrea
15	chr11:46328800-46331000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:46328800-46331400	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr11:46329000-46331000	Enhancers	Primary T cells from cord blood	blood
18	chr11:46329000-46331600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:46329000-46331600	Enhancers	Dnd41	blood
20	chr11:46329000-46331600	Genic enhancers	NHLF	lung
21	chr11:46329000-46331800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:46329000-46331800	Strong transcription	Stomach Mucosa	stomach
23	chr11:46329000-46344000	Strong transcription	Fetal Intestine Large	intestine
24	chr11:46329200-46331000	Genic enhancers	Fetal Muscle Leg	muscle
25	chr11:46329200-46331200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:46329200-46331800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:46329200-46336200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:46329200-46346800	Weak transcription	Fetal Kidney	kidney
29	chr11:46329400-46336200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:46329800-46331400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:46329800-46331800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:46329800-46331800	Enhancers	Placenta	Placenta
33	chr11:46330000-46331000	Genic enhancers	HSMM	muscle
34	chr11:46330000-46331200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:46330000-46331200	Enhancers	Adipose Nuclei	Adipose
36	chr11:46330000-46331200	Genic enhancers	Osteobl	bone
37	chr11:46330000-46331600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:46330000-46331600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:46330000-46331600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:46330000-46331600	Enhancers	Right Atrium	heart
41	chr11:46330000-46331600	Enhancers	A549	lung
42	chr11:46330000-46331600	Genic enhancers	NH-A	brain
43	chr11:46330000-46331800	Genic enhancers	Placenta Amnion	Placenta Amnion
44	chr11:46330000-46331800	Enhancers	GM12878-XiMat	blood
45	chr11:46330000-46331800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:46330000-46331800	Genic enhancers	NHDF-Ad	bronchial
47	chr11:46330000-46332400	Strong transcription	Fetal Lung	lung
48	chr11:46330000-46341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:46330200-46331200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:46330200-46331200	Genic enhancers	K562	blood

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