Variant report

Variant	rs72853415
Chromosome Location	chr6:38471642-38471643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38470131..38472161-chr6:38480038..38482429,2	K562	blood:
2	chr6:38466684..38468343-chr6:38470238..38473899,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72851457	1.00[AFR][1000 genomes]
rs72851482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38444600-38496200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38452400-38496600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:38454400-38486400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38460800-38473000	Enhancers	Brain Germinal Matrix	brain
5	chr6:38467200-38476400	Weak transcription	Ovary	ovary
6	chr6:38467400-38476400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:38467800-38471800	Weak transcription	Brain Anterior Caudate	brain
8	chr6:38468000-38472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:38468000-38476400	Weak transcription	Brain Substantia Nigra	brain
10	chr6:38468200-38471800	Weak transcription	Fetal Brain Female	brain
11	chr6:38468200-38472600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:38468600-38486400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:38469200-38475000	Enhancers	Fetal Muscle Leg	muscle
14	chr6:38469800-38472400	Enhancers	HSMMtube	muscle
15	chr6:38469800-38472800	Enhancers	HepG2	liver
16	chr6:38470200-38471800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:38470200-38472400	Enhancers	Fetal Lung	lung
18	chr6:38470400-38472000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:38470600-38471800	Enhancers	HSMM	muscle
20	chr6:38470600-38472000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:38470600-38472000	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:38470600-38472400	Enhancers	Brain Hippocampus Middle	brain
23	chr6:38470800-38471800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:38470800-38472800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:38471000-38471800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:38471000-38472000	Enhancers	Fetal Intestine Large	intestine
27	chr6:38471000-38472000	Enhancers	Psoas Muscle	Psoas
28	chr6:38471000-38472200	Enhancers	Fetal Heart	heart
29	chr6:38471000-38472200	Enhancers	Fetal Stomach	stomach
30	chr6:38471000-38473200	Enhancers	Fetal Brain Male	brain
31	chr6:38471200-38471800	Weak transcription	Brain Angular Gyrus	brain
32	chr6:38471200-38472000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:38471200-38472200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:38471200-38472400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:38471400-38471800	Weak transcription	Lung	lung
36	chr6:38471400-38476400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:38471600-38472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:38471600-38476000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:38471600-38476000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:38471600-38476400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:38471600-38476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:38471600-38484200	Weak transcription	Right Atrium	heart
43	chr6:38471600-38493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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