Variant report

Variant	rs6948917
Chromosome Location	chr7:105491775-105491776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105489592..105492997-chr7:105515846..105519620,3	MCF-7	breast:
2	chr7:105466838..105469254-chr7:105490953..105492991,2	K562	blood:
3	chr7:105485895..105487877-chr7:105490075..105492788,2	K562	blood:

Variant related genes	Relation type
ENSG00000146776	Chromatin interaction
ENSG00000128536	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12672355	0.84[ASN][1000 genomes]
rs12673582	0.82[ASN][1000 genomes]
rs17152219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2158896	0.84[ASN][1000 genomes]
rs2392642	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2392643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2893575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2893576	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730109	0.82[ASN][1000 genomes]
rs4730111	0.84[ASN][1000 genomes]
rs60969020	0.84[ASN][1000 genomes]
rs73193838	0.84[ASN][1000 genomes]
rs997438	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
2	chr7:105473000-105494400	Weak transcription	Fetal Lung	lung
3	chr7:105479400-105494400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:105479600-105494400	Weak transcription	Fetal Kidney	kidney
5	chr7:105479600-105506200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:105480000-105492800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:105480000-105494400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:105480000-105494400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:105480000-105494400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:105480000-105494400	Weak transcription	Osteobl	bone
11	chr7:105480000-105494800	Weak transcription	Brain Anterior Caudate	brain
12	chr7:105480000-105515600	Weak transcription	Ovary	ovary
13	chr7:105480600-105494200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:105481000-105494400	Weak transcription	Fetal Brain Female	brain
15	chr7:105482200-105506400	Weak transcription	Psoas Muscle	Psoas
16	chr7:105482400-105494200	Weak transcription	Placenta	Placenta
17	chr7:105482600-105492000	Weak transcription	NHLF	lung
18	chr7:105483000-105494600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:105483000-105506400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:105485200-105502400	Weak transcription	Hela-S3	cervix
21	chr7:105488000-105493400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:105488000-105515600	Weak transcription	Aorta	Aorta
23	chr7:105488200-105492400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:105488800-105493200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:105489000-105492200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:105489000-105493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:105489200-105491800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:105489200-105491800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:105489200-105491800	Enhancers	Lung	lung
30	chr7:105489200-105491800	Enhancers	Right Ventricle	heart
31	chr7:105489200-105492000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:105489200-105492400	Enhancers	Fetal Thymus	thymus
33	chr7:105489200-105493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:105489200-105493200	Strong transcription	Fetal Intestine Small	intestine
35	chr7:105489400-105491800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:105489600-105491800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:105489600-105491800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:105489600-105492800	Enhancers	A549	lung
39	chr7:105489600-105497600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:105489800-105493400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:105489800-105506600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:105490000-105491800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:105490000-105492600	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:105490000-105492800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:105490000-105493600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:105490000-105493800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:105490000-105494400	Weak transcription	Right Atrium	heart
48	chr7:105490200-105492400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:105490200-105492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:105490200-105493400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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