Variant report

Variant	rs73461896
Chromosome Location	chr11:46329838-46329839
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	CTCF	chr11:46329696-46331237	A549	lung:	n/a	chr11:46330269-46330287 chr11:46330271-46330284 chr11:46330264-46330285 chr11:46330275-46330284 chr11:46330621-46330630
2	RAD21	chr11:46329809-46330808	SK-N-SH	brain:	n/a	chr11:46330270-46330283 chr11:46330267-46330286 chr11:46330271-46330281 chr11:46330271-46330285 chr11:46330269-46330281
3	CTCF	chr11:46329781-46330858	SK-N-SH	brain:	n/a	chr11:46330269-46330287 chr11:46330271-46330284 chr11:46330264-46330285 chr11:46330275-46330284 chr11:46330621-46330630
4	RAD21	chr11:46329829-46330701	HCT-116	colon:	n/a	chr11:46330270-46330283 chr11:46330267-46330286 chr11:46330271-46330281 chr11:46330271-46330285 chr11:46330269-46330281

No.	Distal block	Cell Line	Cell type
1	chr11:46317049..46320167-chr11:46328612..46332457,5	K562	blood:
2	chr11:46268872..46269823-chr11:46328933..46330762,12	MCF-7	breast:
3	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
4	chr11:46259356..46263049-chr11:46328282..46330652,4	MCF-7	breast:
5	chr11:46259368..46261426-chr11:46329775..46331034,13	K562	blood:
6	chr11:46299380..46302376-chr11:46328886..46330806,2	K562	blood:
7	chr11:46292956..46294811-chr11:46329536..46331821,2	MCF-7	breast:
8	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
9	chr11:46329128..46331454-chr11:46367037..46368744,2	K562	blood:
10	chr11:46329727..46330603-chr9:114837007..114837692,2	MCF-7	breast:
11	chr11:46328323..46330556-chr11:46354487..46356134,2	K562	blood:
12	chr11:46321285..46322187-chr11:46329637..46330365,2	MCF-7	breast:
13	chr11:46270440..46270992-chr11:46329386..46330275,2	MCF-7	breast:
14	chr11:46299635..46300454-chr11:46329818..46330768,5	K562	blood:
15	chr11:46268637..46270076-chr11:46329354..46330736,12	MCF-7	breast:

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56823150	1.00[AFR][1000 genomes]
rs73464047	1.00[AFR][1000 genomes]
rs73464069	1.00[AFR][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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46318200-46330200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:46319200-46330000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:46319200-46330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:46319200-46330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
6	chr11:46319200-46342000	Weak transcription	Ovary	ovary
7	chr11:46319400-46330200	Weak transcription	Colonic Mucosa	Colon
8	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:46321400-46330200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:46321400-46331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:46321400-46340200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46321600-46330000	Weak transcription	Lung	lung
13	chr11:46321600-46330400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:46321800-46330000	Weak transcription	NH-A	brain
15	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
16	chr11:46322200-46330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:46323000-46330400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:46325000-46330000	Weak transcription	GM12878-XiMat	blood
19	chr11:46325000-46330400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:46325400-46331000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:46325800-46330000	Weak transcription	K562	blood
22	chr11:46326400-46335400	Strong transcription	Gastric	stomach
23	chr11:46326600-46330000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:46327000-46330000	Strong transcription	Fetal Intestine Small	intestine
25	chr11:46327000-46330400	Weak transcription	Primary B cells from cord blood	blood
26	chr11:46327800-46330000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:46327800-46330000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:46327800-46330200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:46327800-46330200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:46328000-46331400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:46328200-46330600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:46328200-46334800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:46328400-46330000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:46328400-46330000	Weak transcription	A549	lung
35	chr11:46328600-46330000	Strong transcription	Osteobl	bone
36	chr11:46328600-46331400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:46328600-46331800	Enhancers	Fetal Thymus	thymus
38	chr11:46328600-46333400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:46328600-46334600	Strong transcription	Pancreas	Pancrea
40	chr11:46328800-46330000	Weak transcription	Fetal Lung	lung
41	chr11:46328800-46330000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr11:46328800-46330600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:46328800-46330600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:46328800-46331000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:46328800-46331400	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr11:46329000-46330000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:46329000-46330200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:46329000-46330600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr11:46329000-46331000	Enhancers	Primary T cells from cord blood	blood
50	chr11:46329000-46331600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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