Variant report

Variant	rs17151447
Chromosome Location	chr7:56172944-56172945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56047807..56050319-chr7:56171893..56174174,2	K562	blood:
2	chr7:56171801..56173788-chr7:56307425..56310338,2	K562	blood:

Variant related genes	Relation type
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085802	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253539	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253680	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223519	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229704	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232704	0.80[EUR][1000 genomes]
rs13233037	0.80[EUR][1000 genomes]
rs13233834	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238029	1.00[EUR][1000 genomes]
rs13238083	0.80[EUR][1000 genomes]
rs13240361	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241531	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247558	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013197	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2304375	0.85[ASN][1000 genomes]
rs2331184	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33922584	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023503	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34154824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34319969	1.00[ASN][1000 genomes]
rs34334997	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573211	0.96[EUR][1000 genomes]
rs34822782	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35007015	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033933	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35058595	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35102507	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35136814	0.92[ASN][1000 genomes]
rs35347055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35506072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35515485	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35523043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35581685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818005	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35881493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36044787	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36049923	1.00[ASN][1000 genomes]
rs36148650	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778868	1.00[ASN][1000 genomes]
rs4947531	0.82[ASN][1000 genomes]
rs4948089	0.82[ASN][1000 genomes]
rs4948101	0.92[ASN][1000 genomes]
rs71543774	0.80[EUR][1000 genomes]
rs71543775	0.92[ASN][1000 genomes]
rs71543776	0.89[ASN][1000 genomes]
rs71543777	0.92[ASN][1000 genomes]
rs71543786	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126344	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs816219	0.83[ASN][1000 genomes]
rs816242	0.96[ASN][1000 genomes]
rs816412	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816413	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816415	0.92[EUR][1000 genomes];1.00[ASN][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	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS 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 miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv970483	chr7:56169231-56172955	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56158200-56173200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:56161000-56173000	Weak transcription	Fetal Heart	heart
3	chr7:56161200-56173000	Weak transcription	Right Atrium	heart
4	chr7:56167000-56173200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:56167600-56173200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:56169000-56173200	Weak transcription	Esophagus	oesophagus
7	chr7:56170000-56173000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:56170800-56173000	Weak transcription	Fetal Kidney	kidney
9	chr7:56171600-56173000	Weak transcription	Brain Germinal Matrix	brain
10	chr7:56171800-56173000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:56171800-56173000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:56172000-56173000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:56172000-56173000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:56172000-56173000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:56172000-56173000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:56172000-56173000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:56172000-56173000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:56172000-56173000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:56172000-56173000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:56172000-56173000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:56172000-56173000	Enhancers	Pancreas	Pancrea
22	chr7:56172000-56173000	Enhancers	Right Ventricle	heart
23	chr7:56172000-56173000	Weak transcription	HSMMtube	muscle
24	chr7:56172000-56173000	Weak transcription	NHDF-Ad	bronchial
25	chr7:56172000-56173200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:56172000-56173200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:56172200-56173000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:56172200-56173000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:56172200-56173000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:56172200-56173000	Weak transcription	Adipose Nuclei	Adipose
31	chr7:56172200-56173000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:56172200-56173000	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:56172200-56173000	Weak transcription	Ovary	ovary
34	chr7:56172200-56173200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:56172200-56173200	Weak transcription	Aorta	Aorta
36	chr7:56172200-56173200	Weak transcription	Gastric	stomach
37	chr7:56172200-56173200	Weak transcription	Left Ventricle	heart
38	chr7:56172200-56173400	Transcr. at gene 5' and 3'	K562	blood
39	chr7:56172200-56174800	Active TSS	GM12878-XiMat	blood
40	chr7:56172200-56175000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:56172400-56173000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr7:56172400-56173000	Enhancers	Fetal Muscle Trunk	muscle
43	chr7:56172400-56173200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:56172400-56173600	Enhancers	Spleen	Spleen
45	chr7:56172600-56173000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:56172600-56173000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:56172600-56173000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:56172600-56173000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:56172600-56173000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr7:56172600-56173000	Enhancers	Liver	Liver

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