Variant report

Variant	rs60930011
Chromosome Location	chr7:121517435-121517436
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121516663..121519300-chr7:121525306..121527311,2	MCF-7	breast:
2	chr7:121510725..121513695-chr7:121515453..121517993,2	K562	blood:

Variant related genes	Relation type
ENSG00000106278	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10452995	1.00[EUR][1000 genomes]
rs10488056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206491	0.84[EUR][1000 genomes]
rs17143870	1.00[EUR][1000 genomes]
rs17143872	1.00[EUR][1000 genomes]
rs17143879	0.89[EUR][1000 genomes]
rs17143901	1.00[EUR][1000 genomes]
rs1916881	1.00[EUR][1000 genomes]
rs1916882	1.00[EUR][1000 genomes]
rs2402592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57309972	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58082429	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58096965	1.00[EUR][1000 genomes]
rs58853157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59694519	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434977	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434983	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434988	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73435002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73437103	1.00[EUR][1000 genomes]
rs73437114	1.00[EUR][1000 genomes]
rs73437125	1.00[EUR][1000 genomes]
rs73437144	1.00[EUR][1000 genomes]
rs73437150	1.00[EUR][1000 genomes]
rs960540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918557	1.00[EUR][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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1802911	chr7:121489994-121524500	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121512800-121518600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:121513800-121517600	Active TSS	Brain Germinal Matrix	brain
3	chr7:121514000-121518400	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr7:121514000-121518800	Active TSS	Fetal Brain Female	brain
5	chr7:121515000-121517600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:121515000-121522400	Weak transcription	HMEC	breast
7	chr7:121515400-121520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:121515600-121543600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:121516200-121524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:121516600-121517800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:121516800-121517600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:121516800-121517600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:121516800-121517600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr7:121516800-121517600	Flanking Active TSS	Fetal Brain Male	brain
15	chr7:121517000-121517800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:121517000-121517800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:121517000-121517800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:121517200-121517600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
19	chr7:121517200-121517600	Transcr. at gene 5' and 3'	NHEK	skin
20	chr7:121517200-121518800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:121517400-121517600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:121517400-121517600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
23	chr7:121517400-121518000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:121517400-121518000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:121517400-121518400	Genic enhancers	H1 Cell Line	embryonic stem cell
26	chr7:121517400-121519600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:121517400-121521000	Weak transcription	Brain Anterior Caudate	brain
28	chr7:121517400-121521800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:121517400-121522400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:121517400-121523600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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