Variant report

Variant	rs73591424
Chromosome Location	chr16:82184674-82184675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82181923..82184718-chr16:82200148..82202665,2	K562	blood:
2	chr16:82183487..82186422-chr16:82203517..82206140,2	MCF-7	breast:
3	chr16:82169980..82174652-chr16:82184410..82186452,4	MCF-7	breast:
4	chr16:82184093..82185777-chr16:82196617..82198190,2	K562	blood:
5	chr16:82169199..82174282-chr16:82184479..82189945,7	MCF-7	breast:
6	chr16:82177951..82181955-chr16:82182501..82188169,6	MCF-7	breast:
7	chr16:82184389..82188133-chr16:82192183..82193900,3	K562	blood:
8	chr16:82176048..82178919-chr16:82182025..82184797,2	K562	blood:
9	chr16:82184407..82186885-chr16:82187436..82189068,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135698	Chromatin interaction
ENSG00000261235	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs13337888	1.00[EUR][1000 genomes]
rs16944454	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956466	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637993	1.00[EUR][1000 genomes]
rs57109607	1.00[EUR][1000 genomes]
rs57573650	0.83[AFR][1000 genomes]
rs57899428	0.83[AFR][1000 genomes]
rs57928709	0.85[AFR][1000 genomes]
rs58555653	1.00[EUR][1000 genomes]
rs58852226	1.00[EUR][1000 genomes]
rs59651447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59902565	1.00[EUR][1000 genomes]
rs60263276	1.00[EUR][1000 genomes]
rs60776905	0.85[AFR][1000 genomes]
rs61198904	0.85[AFR][1000 genomes]
rs6564969	1.00[EUR][1000 genomes]
rs6564970	1.00[EUR][1000 genomes]
rs6564986	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6564988	0.92[AFR][1000 genomes]
rs7184881	0.89[AFR][1000 genomes]
rs7186070	0.89[AFR][1000 genomes]
rs7186267	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188170	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191392	0.89[AFR][1000 genomes]
rs7191907	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193358	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195032	0.90[AFR][1000 genomes]
rs7195527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202424	0.93[AFR][1000 genomes]
rs73589621	1.00[EUR][1000 genomes]
rs73589633	1.00[EUR][1000 genomes]
rs73589649	1.00[EUR][1000 genomes]
rs73589675	1.00[EUR][1000 genomes]
rs73589681	1.00[EUR][1000 genomes]
rs73589694	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591403	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591406	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591410	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73591440	0.81[AFR][1000 genomes]
rs73591450	0.87[AFR][1000 genomes]
rs73591453	0.87[AFR][1000 genomes]
rs73591454	0.87[AFR][1000 genomes]
rs73591486	0.90[AFR][1000 genomes]
rs73591491	0.89[AFR][1000 genomes]
rs73591498	0.85[AFR][1000 genomes]
rs73593205	0.80[AFR][1000 genomes]
rs73593211	0.85[AFR][1000 genomes]
rs73593219	0.85[AFR][1000 genomes]
rs73593240	0.83[AFR][1000 genomes]
rs73593256	0.81[AFR][1000 genomes]
rs73604956	1.00[EUR][1000 genomes]
rs8048876	1.00[EUR][1000 genomes]
rs8049032	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053704	0.83[AFR][1000 genomes]
rs8056380	0.88[AFR][1000 genomes]
rs8057418	0.88[AFR][1000 genomes]
rs8060652	0.85[AFR][1000 genomes]
rs9929702	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv457578	chr16:82136566-82197883	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv573366	chr16:82136566-82197883	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv907013	chr16:82154619-82196808	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv573370	chr16:82165183-82185320	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv2753761	chr16:82182011-82187267	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82168000-82195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:82168400-82195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:82168600-82191000	Weak transcription	HSMMtube	muscle
5	chr16:82168600-82195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:82170800-82195800	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:82171200-82185800	Weak transcription	Fetal Intestine Small	intestine
8	chr16:82171200-82193400	Weak transcription	Ovary	ovary
9	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:82173400-82185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:82177000-82195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:82177600-82194000	Weak transcription	Hela-S3	cervix
14	chr16:82179000-82184800	Strong transcription	Dnd41	blood
15	chr16:82179000-82185400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:82179000-82186000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:82179000-82186400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:82179000-82187400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:82179200-82184800	Strong transcription	HSMM	muscle
20	chr16:82179200-82185200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:82179200-82188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:82179200-82196000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:82179400-82184800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:82179400-82185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:82179400-82185400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:82179400-82186800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:82179400-82190000	Strong transcription	HMEC	breast
28	chr16:82179600-82185800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:82179600-82188600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:82179800-82196200	Weak transcription	Fetal Heart	heart
31	chr16:82180200-82185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:82180400-82184800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:82180400-82185000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr16:82180400-82186200	Strong transcription	HepG2	liver
35	chr16:82180400-82188000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr16:82180400-82189800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr16:82180600-82188000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr16:82180800-82187200	Weak transcription	Brain Germinal Matrix	brain
39	chr16:82180800-82195600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:82181000-82194000	Weak transcription	Pancreas	Pancrea
41	chr16:82181200-82186200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:82181200-82186400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:82181200-82193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:82181200-82193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:82181200-82194000	Weak transcription	Aorta	Aorta
46	chr16:82181200-82194000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:82181200-82194000	Weak transcription	Gastric	stomach
48	chr16:82181200-82194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:82181200-82195800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:82181200-82196600	Weak transcription	Small Intestine	intestine

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