Variant report

Variant	rs2288030
Chromosome Location	chr16:71914107-71914108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71841228..71843526-chr16:71913894..71915716,2	K562	blood:
2	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
3	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
4	chr16:71913385..71915141-chr16:71927812..71929318,2	MCF-7	breast:
5	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
6	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224470	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10500567	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10852505	1.00[CHB][hapmap]
rs11075910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11639902	1.00[CHB][hapmap]
rs11642529	1.00[CHB][hapmap]
rs11644740	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11648557	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11865456	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12149307	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12149325	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12444594	0.94[EUR][1000 genomes]
rs12445564	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12445641	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12447045	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs12448022	1.00[CHB][hapmap]
rs12708918	0.81[EUR][1000 genomes]
rs12708919	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs12934512	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17286411	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17357420	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17358402	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1834036	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2878494	1.00[CHB][hapmap]
rs35619990	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3751820	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4528577	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4788450	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs4788561	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4788568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788575	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7188591	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7195988	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7197486	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7198834	0.85[JPT][hapmap]
rs7202840	1.00[CHB][hapmap]
rs8044004	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8044335	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8049163	1.00[CHB][hapmap]
rs8050058	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs8051878	1.00[CHB][hapmap]
rs8052358	0.85[JPT][hapmap]
rs9932707	0.96[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9939911	0.85[JPT][hapmap]
rs9940234	1.00[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
7	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
8	chr16:71888000-71916400	Weak transcription	NHEK	skin
9	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:71896800-71916600	Weak transcription	NHLF	lung
12	chr16:71897800-71915600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
15	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
16	chr16:71898800-71914200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:71899000-71914200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus
21	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
22	chr16:71899200-71914200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr16:71899400-71914400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:71899600-71914200	Weak transcription	Spleen	Spleen
25	chr16:71899600-71916600	Weak transcription	Colonic Mucosa	Colon
26	chr16:71899800-71916800	Weak transcription	Brain Substantia Nigra	brain
27	chr16:71900200-71917200	Weak transcription	Gastric	stomach
28	chr16:71902200-71915200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:71902200-71916800	Weak transcription	Aorta	Aorta
30	chr16:71902600-71916600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:71904000-71916600	Weak transcription	Fetal Heart	heart
32	chr16:71904400-71914200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr16:71906000-71916000	Strong transcription	Fetal Stomach	stomach
34	chr16:71906400-71915400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:71907200-71914200	Strong transcription	Brain Germinal Matrix	brain
36	chr16:71908000-71915800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr16:71908200-71915000	Strong transcription	Brain Angular Gyrus	brain
38	chr16:71908400-71914200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:71908400-71914800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:71908400-71915400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:71908400-71915400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:71908400-71915400	Strong transcription	Fetal Muscle Leg	muscle
43	chr16:71908600-71914600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:71908600-71914800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr16:71908600-71915000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:71908600-71915000	Strong transcription	Fetal Intestine Large	intestine
47	chr16:71908600-71915400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:71909000-71914600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:71909200-71914600	Weak transcription	GM12878-XiMat	blood
50	chr16:71909800-71914200	Strong transcription	Adipose Nuclei	Adipose

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