Variant report

Variant	rs7541119
Chromosome Location	chr1:113448204-113448205
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113445118..113448523-chr1:113453652..113455842,3	MCF-7	breast:
2	chr1:113446003..113448854-chr1:113463781..113465733,2	MCF-7	breast:
3	chr1:113446024..113448381-chr1:113497759..113499583,2	K562	blood:
4	chr1:113445849..113448733-chr1:113470984..113473265,2	K562	blood:
5	chr1:113447709..113449566-chr1:113450371..113452210,2	K562	blood:
6	chr1:113441801..113445545-chr1:113447072..113449494,3	K562	blood:

Variant related genes	Relation type
ENSG00000226419	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11102561	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071491	1.00[ASN][1000 genomes]
rs12117273	1.00[ASN][1000 genomes]
rs12123072	1.00[ASN][1000 genomes]
rs12123519	1.00[ASN][1000 genomes]
rs12126316	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133057	1.00[ASN][1000 genomes]
rs12137299	1.00[ASN][1000 genomes]
rs12138968	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140067	1.00[ASN][1000 genomes]
rs12141018	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141415	1.00[ASN][1000 genomes]
rs12143171	1.00[ASN][1000 genomes]
rs12143341	1.00[ASN][1000 genomes]
rs12184272	1.00[ASN][1000 genomes]
rs12184320	1.00[ASN][1000 genomes]
rs12744661	1.00[ASN][1000 genomes]
rs41306207	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335344	1.00[ASN][1000 genomes]
rs6665673	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982435	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982438	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000320	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000335	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535389	1.00[ASN][1000 genomes]
rs7545814	1.00[ASN][1000 genomes]
rs9429503	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	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	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	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
12	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
13	esv3362439	chr1:113376621-113450321	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113439200-113459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:113439200-113460400	Weak transcription	Aorta	Aorta
3	chr1:113440200-113456400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:113440400-113459600	Weak transcription	Primary T cells from cord blood	blood
5	chr1:113443800-113449600	Enhancers	Stomach Mucosa	stomach
6	chr1:113444400-113454400	Weak transcription	HepG2	liver
7	chr1:113444400-113456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:113445000-113450400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:113445600-113449400	Enhancers	HMEC	breast
10	chr1:113445800-113449200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:113445800-113449600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:113445800-113449600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:113445800-113450000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:113445800-113450400	Enhancers	Brain Hippocampus Middle	brain
15	chr1:113446000-113449000	Enhancers	Right Atrium	heart
16	chr1:113446000-113449600	Enhancers	Hela-S3	cervix
17	chr1:113446000-113450600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:113446000-113456600	Weak transcription	Fetal Heart	heart
19	chr1:113446200-113449000	Enhancers	NHLF	lung
20	chr1:113446200-113449200	Enhancers	NH-A	brain
21	chr1:113446200-113449600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:113446200-113449600	Enhancers	Osteobl	bone
23	chr1:113446200-113455600	Weak transcription	A549	lung
24	chr1:113446400-113448400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:113446400-113448800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:113446400-113449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:113446400-113449600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:113446400-113450000	Weak transcription	Gastric	stomach
29	chr1:113446400-113457800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:113446600-113448400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:113446600-113449000	Enhancers	Fetal Lung	lung
32	chr1:113446600-113449600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:113446600-113459600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:113446800-113450000	Enhancers	HUVEC	blood vessel
35	chr1:113446800-113459800	Weak transcription	Psoas Muscle	Psoas
36	chr1:113447000-113449600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:113447000-113452800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:113447000-113454600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:113447200-113450600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:113447200-113455400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:113447200-113456000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:113447200-113456400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:113447400-113448600	Enhancers	NHDF-Ad	bronchial
44	chr1:113447400-113448800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:113447400-113449000	Enhancers	HSMM	muscle
46	chr1:113447400-113449000	Flanking Active TSS	NHEK	skin
47	chr1:113447400-113449200	Enhancers	Liver	Liver
48	chr1:113447400-113449600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:113447400-113449600	Enhancers	Adipose Nuclei	Adipose
50	chr1:113447400-113449800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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