Variant report

Variant	rs6948752
Chromosome Location	chr7:127643982-127643983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127641392..127644240-chr7:127644779..127647605,2	MCF-7	breast:
2	chr7:127642807..127644804-chr7:127982314..127984455,2	K562	blood:
3	chr7:127643116..127647921-chr7:127647967..127652468,4	K562	blood:

Variant related genes	Relation type
ENSG00000106344	Chromatin interaction
ENSG00000238750	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12706824	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13223326	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13232846	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13238717	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13240628	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17730294	0.86[ASN][1000 genomes]
rs17733783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34209480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34250605	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34393727	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34844752	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34874680	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35013916	0.82[EUR][1000 genomes]
rs35246122	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35584770	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35585856	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35602492	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3757762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808090	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs58341788	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481384	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62481393	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs62481453	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483978	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs737242	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127627200-127644800	Weak transcription	Fetal Brain Female	brain
2	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:127630400-127644000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:127631200-127655600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
7	chr7:127634200-127657800	Weak transcription	NH-A	brain
8	chr7:127634600-127646000	Weak transcription	Thymus	Thymus
9	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:127636000-127646000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
13	chr7:127636200-127644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:127636200-127645200	Weak transcription	Fetal Stomach	stomach
15	chr7:127636200-127646000	Weak transcription	Fetal Brain Male	brain
16	chr7:127636600-127650400	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:127636600-127650600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:127636800-127652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:127637000-127645200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:127637000-127645800	Weak transcription	Small Intestine	intestine
21	chr7:127637000-127658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:127637400-127650200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:127637600-127645200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:127637600-127650600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:127637600-127651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:127637600-127652400	Weak transcription	A549	lung
27	chr7:127637800-127646400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:127637800-127650400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:127637800-127650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:127637800-127650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:127637800-127652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:127638000-127653000	Weak transcription	NHLF	lung
33	chr7:127638200-127652000	Weak transcription	HMEC	breast
34	chr7:127639000-127645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:127639200-127645800	Weak transcription	Fetal Thymus	thymus
36	chr7:127639200-127646200	Weak transcription	Fetal Lung	lung
37	chr7:127640600-127645800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:127640800-127644000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:127640800-127644800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:127640800-127647400	Enhancers	Brain Substantia Nigra	brain
41	chr7:127641000-127644200	Weak transcription	Fetal Intestine Large	intestine
42	chr7:127641200-127645000	Weak transcription	Fetal Kidney	kidney
43	chr7:127641200-127645200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:127641200-127645200	Weak transcription	Brain Germinal Matrix	brain
45	chr7:127641200-127645200	Weak transcription	Lung	lung
46	chr7:127641200-127648600	Weak transcription	Psoas Muscle	Psoas
47	chr7:127641200-127652400	Weak transcription	Esophagus	oesophagus
48	chr7:127641200-127657000	Weak transcription	Stomach Mucosa	stomach
49	chr7:127641400-127644200	Weak transcription	Fetal Intestine Small	intestine
50	chr7:127641400-127647400	Enhancers	Liver	Liver

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