Variant report

Variant	rs445431
Chromosome Location	chr11:16900940-16900941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16888585..16890832-chr11:16900532..16902308,3	MCF-7	breast:
2	chr11:16898156..16901710-chr11:16902984..16905374,4	K562	blood:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12418111	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1638456	0.93[ASN][1000 genomes]
rs1638457	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16933675	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16933680	0.87[AFR][1000 genomes]
rs16933682	0.87[AFR][1000 genomes]
rs177546	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs177551	0.83[ASN][1000 genomes]
rs177554	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35109048	0.87[AFR][1000 genomes]
rs367373	0.80[ASN][1000 genomes]
rs370053	0.81[AMR][1000 genomes]
rs370671	0.81[AMR][1000 genomes]
rs378863	0.95[ASN][1000 genomes]
rs381815	0.98[ASN][1000 genomes]
rs382280	0.81[AMR][1000 genomes]
rs385627	0.81[AMR][1000 genomes]
rs387849	0.81[AMR][1000 genomes]
rs388968	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs389967	0.81[AMR][1000 genomes]
rs391332	0.92[ASN][1000 genomes]
rs393633	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs397373	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs400085	0.81[AMR][1000 genomes]
rs400349	0.81[AMR][1000 genomes]
rs406937	0.81[AMR][1000 genomes]
rs407354	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs407932	0.81[AMR][1000 genomes]
rs409354	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs413858	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs414219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414992	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs417406	0.81[AMR][1000 genomes]
rs422272	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs425325	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs427429	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs428840	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs429368	0.81[AMR][1000 genomes]
rs432046	0.95[ASN][1000 genomes]
rs434899	0.95[ASN][1000 genomes]
rs435206	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443327	0.81[AMR][1000 genomes]
rs445205	0.95[ASN][1000 genomes]
rs446518	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs446612	0.81[AMR][1000 genomes]
rs448671	0.98[ASN][1000 genomes]
rs452414	0.81[AMR][1000 genomes]
rs58542530	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59828007	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61882035	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882036	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882037	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882038	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs758402	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7926335	0.88[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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16885200-16902400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:16891000-16901000	Weak transcription	Lung	lung
3	chr11:16891200-16904600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:16891600-16903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:16893400-16901600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16893400-16902600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:16896400-16901800	Weak transcription	Fetal Intestine Large	intestine
8	chr11:16896600-16902400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:16896600-16902600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:16896800-16902600	Weak transcription	HSMMtube	muscle
11	chr11:16897400-16901200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:16897600-16901200	Enhancers	Brain Anterior Caudate	brain
13	chr11:16897800-16901000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:16898000-16903600	Enhancers	Gastric	stomach
15	chr11:16898400-16908400	Weak transcription	HepG2	liver
16	chr11:16898800-16901600	Weak transcription	Ovary	ovary
17	chr11:16898800-16902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:16898800-16902400	Weak transcription	Fetal Lung	lung
19	chr11:16898800-16902800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:16899000-16902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:16899000-16902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:16899200-16902000	Weak transcription	NHEK	skin
23	chr11:16899200-16903000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:16899200-16903600	Enhancers	Left Ventricle	heart
25	chr11:16899400-16902600	Weak transcription	Brain Substantia Nigra	brain
26	chr11:16899400-16904600	Weak transcription	Placenta	Placenta
27	chr11:16900000-16901200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:16900000-16902000	Enhancers	Right Ventricle	heart
29	chr11:16900000-16903600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:16900000-16903600	Enhancers	Pancreas	Pancrea
31	chr11:16900200-16901800	Enhancers	Esophagus	oesophagus
32	chr11:16900200-16905400	Enhancers	Stomach Mucosa	stomach
33	chr11:16900400-16901000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:16900400-16901800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:16900400-16903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:16900600-16901000	Flanking Active TSS	Fetal Heart	heart
37	chr11:16900600-16905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:16900800-16901200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:16900800-16901400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr11:16900800-16902000	Enhancers	Right Atrium	heart
41	chr11:16900800-16902600	Enhancers	HMEC	breast
42	chr11:16900800-16902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:16900800-16902800	Weak transcription	Adipose Nuclei	Adipose
44	chr11:16900800-16903400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:16900800-16905800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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