Variant report

Variant	rs4728082
Chromosome Location	chr7:127662278-127662279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127657571..127659586-chr7:127661972..127664018,2	K562	blood:
2	chr7:127661672..127664350-chr7:127696430..127698660,2	MCF-7	breast:
3	chr7:127660092..127663407-chr7:127669055..127671780,3	MCF-7	breast:
4	chr7:127645347..127648256-chr7:127660834..127662429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128594	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1019578	1.00[EUR][1000 genomes]
rs10228031	1.00[EUR][1000 genomes]
rs1025075	1.00[EUR][1000 genomes]
rs10487503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1108809	0.80[AMR][1000 genomes]
rs12536253	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1440973	1.00[EUR][1000 genomes]
rs1468702	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17133046	1.00[EUR][1000 genomes]
rs17151515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151567	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151575	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17151650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151837	1.00[EUR][1000 genomes]
rs1833146	1.00[EUR][1000 genomes]
rs2402873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325438	1.00[EUR][1000 genomes]
rs325439	1.00[EUR][1000 genomes]
rs325443	1.00[EUR][1000 genomes]
rs325448	1.00[EUR][1000 genomes]
rs325449	1.00[EUR][1000 genomes]
rs325450	1.00[EUR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs3808056	0.82[LWK][hapmap]
rs4728078	1.00[EUR][1000 genomes]
rs4728084	1.00[GIH][hapmap]
rs4728085	1.00[GIH][hapmap]
rs4731382	1.00[EUR][1000 genomes]
rs4731383	1.00[EUR][1000 genomes]
rs4731384	1.00[EUR][1000 genomes]
rs4731390	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731391	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58395975	1.00[EUR][1000 genomes]
rs61743021	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467149	1.00[EUR][1000 genomes]
rs6467154	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950211	1.00[EUR][1000 genomes]
rs6952123	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952734	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953530	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964714	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6966724	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6972398	0.84[ASN][1000 genomes]
rs6972816	1.00[ASN][1000 genomes]
rs6975274	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976145	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721253	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721258	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721261	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73721264	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794303	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7800110	0.80[AMR][1000 genomes]
rs7804310	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7809182	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7810883	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS 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	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
2	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
3	chr7:127644000-127668800	Weak transcription	Dnd41	blood
4	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:127651800-127664400	Weak transcription	Right Ventricle	heart
10	chr7:127651800-127665600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:127651800-127667600	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:127651800-127668800	Weak transcription	Ovary	ovary
13	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:127653200-127668800	Weak transcription	Thymus	Thymus
15	chr7:127653400-127662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:127654800-127664200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:127657000-127664600	Strong transcription	GM12878-XiMat	blood
19	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:127657200-127663800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:127657800-127663200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:127657800-127669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:127658000-127668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:127658200-127663000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:127658400-127666600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:127658600-127662400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:127658800-127668800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:127658800-127669600	Weak transcription	Stomach Mucosa	stomach
29	chr7:127659000-127662600	Strong transcription	Primary B cells from cord blood	blood
30	chr7:127659000-127667400	Weak transcription	Fetal Kidney	kidney
31	chr7:127659200-127665800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:127659400-127662800	Weak transcription	Esophagus	oesophagus
33	chr7:127659400-127664600	Weak transcription	Right Atrium	heart
34	chr7:127660000-127662400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:127660000-127664400	Enhancers	HMEC	breast
36	chr7:127660200-127662800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:127660200-127666800	Strong transcription	HepG2	liver
38	chr7:127660400-127662400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:127660400-127662400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:127660400-127662400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:127660400-127662400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:127660400-127662800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:127660400-127663600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:127660400-127664000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:127660400-127667400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:127660800-127662400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:127660800-127662600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:127660800-127662800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:127660800-127663400	Enhancers	Hela-S3	cervix
50	chr7:127660800-127665600	Weak transcription	Small Intestine	intestine

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