Variant report

Variant	rs6499549
Chromosome Location	chr16:71936931-71936932
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71936147..71938955-chr16:71940995..71943560,3	K562	blood:
2	chr16:71926844..71931687-chr16:71933054..71938868,11	MCF-7	breast:
3	chr16:71935084..71939148-chr16:71940742..71943811,5	MCF-7	breast:
4	chr16:71933462..71935893-chr16:71936421..71939134,2	MCF-7	breast:
5	chr16:71935199..71937559-chr16:71949615..71951829,2	MCF-7	breast:
6	chr16:71933405..71937193-chr16:71939159..71943581,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13334617	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337119	1.00[AMR][1000 genomes]
rs28431030	1.00[AFR][1000 genomes]
rs28450081	1.00[AMR][1000 genomes]
rs28450346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523974	0.92[AFR][1000 genomes]
rs28711364	1.00[AMR][1000 genomes]
rs35999277	0.80[AFR][1000 genomes]
rs59358880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186536	1.00[AMR][1000 genomes]
rs7191105	1.00[AMR][1000 genomes]
rs7198387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202000	1.00[AMR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73582271	1.00[AMR][1000 genomes]
rs73582274	1.00[AMR][1000 genomes]
rs73582278	1.00[AMR][1000 genomes]
rs73582282	1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	1.00[AMR][1000 genomes]
rs73590035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590039	0.89[AFR][1000 genomes]
rs73590051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048947	1.00[AMR][1000 genomes]
rs8051461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9673858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923154	1.00[AMR][1000 genomes]
rs9923213	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9928365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932715	1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933862	1.00[AMR][1000 genomes]
rs9937049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941356	0.80[AFR][1000 genomes];1.00[AMR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71930800-71943200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:71930800-71944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr16:71930800-71950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:71930800-71951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:71931000-71937000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:71931000-71937800	Enhancers	Primary B cells from peripheral blood	blood
7	chr16:71931000-71942800	Weak transcription	Fetal Heart	heart
8	chr16:71931000-71949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:71931000-71949600	Weak transcription	NHEK	skin
10	chr16:71931200-71937000	Weak transcription	Brain Germinal Matrix	brain
11	chr16:71931200-71938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:71931200-71940600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr16:71931200-71942800	Weak transcription	HSMM	muscle
14	chr16:71931200-71943000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr16:71931200-71943000	Weak transcription	Fetal Lung	lung
16	chr16:71931200-71943000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:71931200-71943200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr16:71931200-71944800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:71931200-71946600	Weak transcription	A549	lung
20	chr16:71931200-71949800	Weak transcription	Esophagus	oesophagus
21	chr16:71931200-71950000	Weak transcription	HMEC	breast
22	chr16:71931200-71956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:71931400-71942600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:71931400-71949400	Weak transcription	Fetal Kidney	kidney
25	chr16:71931600-71937200	Weak transcription	Fetal Intestine Large	intestine
26	chr16:71931600-71942400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:71931600-71944400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr16:71932000-71942600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr16:71932000-71942600	Weak transcription	Thymus	Thymus
30	chr16:71932000-71942800	Weak transcription	Hela-S3	cervix
31	chr16:71932000-71943200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:71932400-71937000	Weak transcription	Pancreas	Pancrea
33	chr16:71932400-71943000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:71932600-71942600	Weak transcription	Gastric	stomach
35	chr16:71932600-71951800	Weak transcription	Colonic Mucosa	Colon
36	chr16:71932800-71942600	Weak transcription	Fetal Thymus	thymus
37	chr16:71933200-71942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr16:71933400-71937600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:71933400-71938000	Weak transcription	Spleen	Spleen
40	chr16:71933400-71940400	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:71933400-71942600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:71933400-71948400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:71933400-71949000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:71933400-71950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:71933600-71938000	Weak transcription	Fetal Intestine Small	intestine
46	chr16:71933600-71938000	Weak transcription	Fetal Stomach	stomach
47	chr16:71934000-71938200	Weak transcription	Left Ventricle	heart
48	chr16:71934000-71943000	Weak transcription	Lung	lung
49	chr16:71934200-71949600	Weak transcription	Placenta	Placenta
50	chr16:71934400-71937000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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