Variant report

Variant	rs6948697
Chromosome Location	chr7:129381156-129381157
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129380254..129382975-chr7:129414293..129416363,2	K562	blood:
2	chr7:129372539..129374355-chr7:129379814..129381363,2	MCF-7	breast:
3	chr7:129381004..129383973-chr7:129384004..129385791,2	K562	blood:
4	chr7:129379929..129382728-chr7:129402086..129404067,3	K562	blood:
5	chr7:129374523..129378775-chr7:129380102..129386585,8	K562	blood:
6	chr7:129380203..129383393-chr7:129464866..129467037,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207691	Chromatin interaction
ENSG00000199158	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10244147	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10259352	0.99[AFR][1000 genomes]
rs11973724	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6948697	FAM71F1	cis	parietal	SCAN
rs6948697	UBE2H	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129339200-129381800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:129348200-129392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:129351600-129394800	Weak transcription	Hela-S3	cervix
4	chr7:129357000-129392400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:129360600-129394800	Weak transcription	Small Intestine	intestine
6	chr7:129361800-129392400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:129362200-129381200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:129362200-129387800	Strong transcription	Liver	Liver
9	chr7:129364200-129397600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:129365200-129388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
12	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
13	chr7:129372000-129383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:129372000-129390000	Weak transcription	HMEC	breast
15	chr7:129372200-129381600	Weak transcription	Fetal Brain Female	brain
16	chr7:129372200-129387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:129372200-129390000	Weak transcription	NHEK	skin
18	chr7:129372200-129397800	Weak transcription	NH-A	brain
19	chr7:129372400-129398800	Weak transcription	NHLF	lung
20	chr7:129373400-129389200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:129373600-129385600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:129373800-129385200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr7:129373800-129392000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:129374600-129394800	Weak transcription	Gastric	stomach
25	chr7:129374800-129386600	Weak transcription	Esophagus	oesophagus
26	chr7:129374800-129390000	Weak transcription	Colonic Mucosa	Colon
27	chr7:129375000-129381400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:129375000-129386600	Weak transcription	GM12878-XiMat	blood
29	chr7:129375000-129390000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:129375000-129391600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:129375000-129394800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:129375000-129395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:129375600-129381400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:129375800-129392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:129376600-129384600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:129376600-129393000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:129376600-129397200	Strong transcription	Dnd41	blood
38	chr7:129376800-129381200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:129376800-129383600	Enhancers	Fetal Heart	heart
40	chr7:129376800-129392200	Strong transcription	Primary T cells from cord blood	blood
41	chr7:129377000-129382200	Strong transcription	Primary B cells from cord blood	blood
42	chr7:129377000-129387800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:129377200-129387200	Strong transcription	Fetal Stomach	stomach
44	chr7:129377200-129392800	Strong transcription	Thymus	Thymus
45	chr7:129377400-129382200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:129377600-129382400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:129377600-129382400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:129377600-129387600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:129377800-129382400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr7:129378000-129381600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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