Variant report

Variant	rs1834033
Chromosome Location	chr16:71943781-71943782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71935084..71939148-chr16:71940742..71943811,5	MCF-7	breast:
2	chr16:71942932..71945142-chr16:71984421..71987167,2	K562	blood:
3	chr16:71941557..71944362-chr16:71947256..71950038,2	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1035543	0.90[EUR][1000 genomes]
rs12597418	0.82[EUR][1000 genomes]
rs12600153	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12600163	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13332113	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13332180	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13337118	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2291947	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34111614	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4538017	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4788448	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788567	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4788572	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788574	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788578	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55702379	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56309616	0.90[EUR][1000 genomes]
rs60075093	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60740701	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7350856	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs952159	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs952160	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9889100	0.87[EUR][1000 genomes]
rs9925441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9925684	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9936965	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9937626	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
6	esv3400345	chr16:71943747-71943941	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71930800-71944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr16:71930800-71950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71930800-71951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:71931000-71949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:71931000-71949600	Weak transcription	NHEK	skin
6	chr16:71931200-71944800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:71931200-71946600	Weak transcription	A549	lung
8	chr16:71931200-71949800	Weak transcription	Esophagus	oesophagus
9	chr16:71931200-71950000	Weak transcription	HMEC	breast
10	chr16:71931200-71956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:71931400-71949400	Weak transcription	Fetal Kidney	kidney
12	chr16:71931600-71944400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr16:71932600-71951800	Weak transcription	Colonic Mucosa	Colon
14	chr16:71933400-71948400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:71933400-71949000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:71933400-71950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:71934200-71949600	Weak transcription	Placenta	Placenta
18	chr16:71934400-71945600	Weak transcription	Aorta	Aorta
19	chr16:71934400-71951000	Weak transcription	Fetal Brain Male	brain
20	chr16:71934600-71946600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:71934600-71948400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr16:71934600-71948800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr16:71934600-71949000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:71934600-71949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:71934800-71946600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:71934800-71948200	Weak transcription	HUVEC	blood vessel
27	chr16:71935000-71946600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:71935200-71950200	Weak transcription	NHLF	lung
29	chr16:71936000-71948200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:71936000-71948600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:71936200-71946600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:71937200-71952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:71937600-71947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr16:71938000-71945000	Weak transcription	K562	blood
35	chr16:71938000-71949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:71938200-71943800	Weak transcription	Liver	Liver
37	chr16:71938200-71945600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:71938600-71948200	Weak transcription	Brain Substantia Nigra	brain
39	chr16:71939200-71949800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:71940000-71946600	Weak transcription	Primary B cells from cord blood	blood
41	chr16:71940600-71950000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:71941000-71950000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:71941400-71950000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:71941800-71944200	Strong transcription	Fetal Intestine Small	intestine
45	chr16:71941800-71945200	Weak transcription	Primary T cells from cord blood	blood
46	chr16:71941800-71948400	Strong transcription	Fetal Stomach	stomach
47	chr16:71942000-71944200	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr16:71942000-71944400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:71942200-71951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr16:71942200-71951600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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