Variant report

Variant	rs7657303
Chromosome Location	chr4:158914144-158914145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:158912571..158916849-chr4:159013907..159018478,8	MCF-7	breast:
2	chr4:158912471..158914570-chr4:159016207..159019038,2	MCF-7	breast:
3	chr4:158911789..158914319-chr4:159172827..159175219,2	MCF-7	breast:
4	chr4:158912006..158922011-chr4:159085009..159099282,46	MCF-7	breast:
5	chr4:158908850..158922778-chr4:159084957..159098830,43	MCF-7	breast:
6	chr4:158912766..158914612-chr4:159093255..159094613,8	MCF-7	breast:
7	chr4:158912447..158914519-chr4:159011128..159013827,2	MCF-7	breast:
8	chr4:158913650..158917854-chr4:159079985..159084707,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248429	Chromatin interaction
ENSG00000164125	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10003459	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs10005901	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10027000	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10049927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137826	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28635553	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4072170	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4077776	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077777	0.82[EUR][1000 genomes]
rs4388135	0.88[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs4487405	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4504305	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4521391	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4574459	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615226	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4631100	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691447	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4691460	0.81[CHB][hapmap]
rs6536298	0.81[CEU][hapmap];0.82[CHD][hapmap];0.83[TSI][hapmap]
rs66490968	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6814979	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs6830475	0.81[CHB][hapmap]
rs6833295	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs6843728	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap]
rs6847800	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6848159	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7673290	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682867	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7692254	0.84[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs9968557	0.92[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs9991381	0.92[AMR][1000 genomes];0.97[EUR][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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7657303	FAM198B	cis	Whole Blood	GTEx
rs7657303	DKFZp434L142	cis	multi-tissue	Pritchard

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158912800-158914400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:158913400-158914400	Enhancers	Liver	Liver
3	chr4:158913400-158914400	Enhancers	Fetal Heart	heart
4	chr4:158913400-158914600	Enhancers	Stomach Mucosa	stomach
5	chr4:158913400-158914600	Flanking Active TSS	HepG2	liver
6	chr4:158913600-158916600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:158913600-158917800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:158913800-158914200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:158913800-158914400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:158913800-158914400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:158913800-158914400	Enhancers	Brain Hippocampus Middle	brain
12	chr4:158913800-158914400	Enhancers	Duodenum Mucosa	Duodenum
13	chr4:158913800-158914400	Enhancers	Fetal Kidney	kidney
14	chr4:158913800-158914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:158913800-158914600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:158913800-158914800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr4:158913800-158914800	Enhancers	HUVEC	blood vessel
18	chr4:158913800-158914800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr4:158913800-158915000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:158913800-158915200	Weak transcription	Ovary	ovary
21	chr4:158913800-158915400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:158913800-158915800	Weak transcription	Brain Substantia Nigra	brain
23	chr4:158913800-158915800	Enhancers	A549	lung
24	chr4:158913800-158916000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:158913800-158916000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:158913800-158916000	Weak transcription	Brain Angular Gyrus	brain
27	chr4:158913800-158916000	Weak transcription	Brain Anterior Caudate	brain
28	chr4:158913800-158916000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:158913800-158916000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:158913800-158916000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:158913800-158916000	Weak transcription	NHDF-Ad	bronchial
32	chr4:158913800-158916200	Weak transcription	NHLF	lung
33	chr4:158913800-158917200	Weak transcription	Fetal Stomach	stomach
34	chr4:158913800-158917400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:158913800-158917400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:158913800-158917400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:158913800-158917400	Weak transcription	NH-A	brain
38	chr4:158913800-158918800	Enhancers	Fetal Intestine Small	intestine
39	chr4:158913800-158928200	Weak transcription	HSMM	muscle
40	chr4:158913800-158930000	Weak transcription	Right Atrium	heart
41	chr4:158914000-158914400	Enhancers	Adipose Nuclei	Adipose
42	chr4:158914000-158914400	Weak transcription	Fetal Intestine Large	intestine
43	chr4:158914000-158914600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr4:158914000-158915000	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:158914000-158915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:158914000-158916000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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