Variant report

Variant	rs17030974
Chromosome Location	chr1:113621165-113621166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113615839..113617741-chr1:113618615..113621229,2	K562	blood:
2	chr1:113615006..113617589-chr1:113617756..113622024,6	MCF-7	breast:
3	chr1:113615363..113617741-chr1:113618615..113621182,4	K562	blood:
4	chr1:113615345..113617291-chr1:113618178..113621807,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198799	Chromatin interaction
ENSG00000238198	Chromatin interaction

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

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

rs_ID	r²[population]
rs11102575	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs11102576	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs11102577	0.81[AFR][1000 genomes]
rs11102578	0.85[ASN][1000 genomes]
rs11102579	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11102581	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11102582	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140104	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1216760	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1216762	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1216763	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1216766	0.86[ASN][1000 genomes]
rs1216768	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1216772	0.84[JPT][hapmap]
rs1216780	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1216781	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1216783	0.83[JPT][hapmap]
rs1216801	0.96[CEU][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1216804	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12184285	0.83[JPT][hapmap]
rs12568813	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs12744009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12746771	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs12758163	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1419136	0.86[ASN][1000 genomes]
rs1544227	0.83[JPT][hapmap]
rs1619133	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1626085	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17030905	0.94[JPT][hapmap]
rs1728218	0.83[JPT][hapmap]
rs1728230	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1728238	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1766862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1766863	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1778015	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1778018	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1778024	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1778025	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1778027	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1778028	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1983929	0.83[JPT][hapmap]
rs2485964	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2798686	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2798687	0.86[ASN][1000 genomes]
rs2798689	0.86[ASN][1000 genomes]
rs2840294	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2950632	0.82[ASN][1000 genomes]
rs3889656	0.83[CEU][hapmap]
rs4025965	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4838975	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs55894203	0.81[ASN][1000 genomes]
rs6656311	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs72683488	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9429509	0.85[ASN][1000 genomes]
rs9787311	0.81[CEU][hapmap];0.82[JPT][hapmap]

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	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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 miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv437002	chr1:113592588-113658887	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113616800-113621400	Weak transcription	Lung	lung
2	chr1:113616800-113625600	Weak transcription	Esophagus	oesophagus
3	chr1:113616800-113638600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113617000-113630800	Weak transcription	Ovary	ovary
5	chr1:113617000-113636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:113617000-113636800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:113617000-113638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:113617000-113645800	Weak transcription	Aorta	Aorta
9	chr1:113617200-113621200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:113617200-113621400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:113617200-113630400	Weak transcription	Fetal Kidney	kidney
12	chr1:113617200-113631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:113617200-113631600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:113617200-113633800	Weak transcription	Liver	Liver
15	chr1:113617200-113635800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:113617200-113636400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:113617200-113636400	Weak transcription	HSMMtube	muscle
18	chr1:113617200-113636400	Weak transcription	NHDF-Ad	bronchial
19	chr1:113617200-113642600	Weak transcription	A549	lung
20	chr1:113617400-113621200	Weak transcription	HMEC	breast
21	chr1:113617400-113621600	Weak transcription	Colonic Mucosa	Colon
22	chr1:113617400-113621600	Weak transcription	HSMM	muscle
23	chr1:113617400-113624600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:113617400-113624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:113617400-113634600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:113617400-113638000	Weak transcription	NHLF	lung
27	chr1:113617800-113621800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:113617800-113623600	Weak transcription	Pancreas	Pancrea
29	chr1:113617800-113628000	Weak transcription	Primary B cells from cord blood	blood
30	chr1:113617800-113634600	Weak transcription	NHEK	skin
31	chr1:113617800-113637200	Weak transcription	Psoas Muscle	Psoas
32	chr1:113617800-113637800	Weak transcription	Spleen	Spleen
33	chr1:113617800-113638000	Weak transcription	Gastric	stomach
34	chr1:113618000-113634200	Weak transcription	Hela-S3	cervix
35	chr1:113618200-113623600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:113618200-113629000	Weak transcription	Fetal Heart	heart
37	chr1:113618200-113631600	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:113618200-113631600	Weak transcription	Brain Substantia Nigra	brain
39	chr1:113618400-113623800	Weak transcription	GM12878-XiMat	blood
40	chr1:113618400-113624000	Weak transcription	Thymus	Thymus
41	chr1:113618400-113624600	Weak transcription	Primary T cells from cord blood	blood
42	chr1:113618400-113627400	Weak transcription	HUVEC	blood vessel
43	chr1:113618400-113631600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:113618400-113634200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:113618400-113634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:113618600-113621400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:113618800-113622600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:113618800-113629600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:113619000-113621400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:113619000-113621400	Weak transcription	Right Ventricle	heart

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