Variant report

Variant	rs10034181
Chromosome Location	chr4:148663146-148663147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148655598..148657433-chr4:148661220..148663896,2	MCF-7	breast:
2	chr4:148662885..148664901-chr4:148710340..148713204,2	MCF-7	breast:
3	chr4:140373742..140376231-chr4:148662153..148664287,2	MCF-7	breast:
4	chr4:148655373..148657177-chr4:148661205..148664133,2	K562	blood:
5	chr4:148661332..148664177-chr4:148751893..148754827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273247	Chromatin interaction
ENSG00000172007	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10011891	1.00[AMR][1000 genomes]
rs10023419	1.00[AMR][1000 genomes]
rs10024194	0.83[AMR][1000 genomes]
rs10029636	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11931510	1.00[AMR][1000 genomes]
rs11932755	0.83[AMR][1000 genomes]
rs11932883	0.83[AMR][1000 genomes]
rs28416885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34001293	0.83[AMR][1000 genomes]
rs57632432	0.83[AMR][1000 genomes]
rs58012022	0.83[AMR][1000 genomes]
rs58285779	0.83[AMR][1000 genomes]
rs58965352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59938265	0.83[AMR][1000 genomes]
rs61312957	0.83[AMR][1000 genomes]
rs61355480	0.83[AMR][1000 genomes]
rs61363583	0.83[AMR][1000 genomes]
rs72945871	0.83[AMR][1000 genomes]
rs72945873	0.83[AMR][1000 genomes]
rs72945877	0.83[AMR][1000 genomes]
rs72945879	0.83[AMR][1000 genomes]
rs72945896	0.83[AMR][1000 genomes]
rs72947812	0.83[AMR][1000 genomes]
rs72947824	0.83[AMR][1000 genomes]
rs72947833	0.83[AMR][1000 genomes]
rs72947849	0.83[AMR][1000 genomes]
rs72947870	0.83[AMR][1000 genomes]
rs72947876	0.83[AMR][1000 genomes]
rs72947892	0.83[AMR][1000 genomes]
rs72949789	0.83[AMR][1000 genomes]
rs72949795	0.83[AMR][1000 genomes]
rs72949796	0.83[AMR][1000 genomes]
rs72949798	1.00[AMR][1000 genomes]
rs72951406	1.00[AMR][1000 genomes]
rs72951412	1.00[AMR][1000 genomes]
rs72951422	1.00[AMR][1000 genomes]
rs72951423	1.00[AMR][1000 genomes]
rs72953473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953481	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953487	0.83[AMR][1000 genomes]
rs72953502	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955506	1.00[AMR][1000 genomes]
rs9996365	1.00[AMR][1000 genomes]
rs9997304	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148655800-148663400	Enhancers	Fetal Heart	heart
3	chr4:148655800-148665600	Weak transcription	Lung	lung
4	chr4:148656600-148676800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:148656800-148675200	Weak transcription	Fetal Stomach	stomach
6	chr4:148657000-148668600	Weak transcription	Gastric	stomach
7	chr4:148657400-148668600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:148658200-148663200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:148658200-148665400	Weak transcription	Aorta	Aorta
10	chr4:148658200-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:148658800-148663200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:148658800-148665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:148659200-148665200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:148659200-148668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:148660400-148663400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:148660800-148668200	Weak transcription	Fetal Intestine Large	intestine
17	chr4:148661000-148664000	Enhancers	HSMM	muscle
18	chr4:148661200-148663400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:148661200-148663400	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:148661200-148663400	Enhancers	NHDF-Ad	bronchial
21	chr4:148661200-148663600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:148661200-148663600	Enhancers	Osteobl	bone
23	chr4:148661400-148663400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:148661400-148663600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:148661600-148663600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:148661800-148663200	Enhancers	NHLF	lung
27	chr4:148661800-148663400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:148661800-148663400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:148661800-148663400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:148662200-148663200	Enhancers	A549	lung
31	chr4:148662200-148663400	Enhancers	NHEK	skin
32	chr4:148662400-148663400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:148662400-148663400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:148662400-148663400	Enhancers	Colon Smooth Muscle	Colon
35	chr4:148662400-148663400	Enhancers	HMEC	breast
36	chr4:148662600-148663200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:148662600-148663200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr4:148662600-148663200	Enhancers	Left Ventricle	heart
39	chr4:148662600-148663200	Flanking Active TSS	GM12878-XiMat	blood
40	chr4:148662600-148663400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:148662600-148663400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr4:148662600-148663400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:148662600-148663400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:148662600-148663400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:148662600-148663400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:148662600-148663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:148662600-148663400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr4:148662600-148663400	Enhancers	Ovary	ovary
49	chr4:148662600-148663400	Enhancers	HSMMtube	muscle
50	chr4:148662600-148663400	Enhancers	NH-A	brain

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