Variant report

Variant	rs72993672
Chromosome Location	chr1:151996971-151996972
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	chr1:151996726..151998769-chr17:58621164..58623973,2	MCF-7	breast:
2	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229021	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6587642	0.85[AFR][1000 genomes]
rs72993621	0.85[AFR][1000 genomes]
rs72993637	0.85[AFR][1000 genomes]
rs72993673	1.00[AFR][1000 genomes]
rs72993675	0.84[AFR][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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151986800-152007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:151988600-152002600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:151988600-152004000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:151993400-152003000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:151994000-152002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:151994200-151997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:151994400-152003200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:151995000-151997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:151995600-151997000	Enhancers	Placenta	Placenta
10	chr1:151995600-151997800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:151995600-152001200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:151995800-151997800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:151996000-151997000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:151996000-151997000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:151996200-151997000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:151996200-151997200	Flanking Active TSS	NHEK	skin
17	chr1:151996400-151997000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:151996400-151997000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:151996400-151997000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:151996400-151997000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:151996600-151997000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:151996600-151997000	Weak transcription	Esophagus	oesophagus
23	chr1:151996600-152004400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:151996800-151997000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:151996800-151997200	Enhancers	HMEC	breast
26	chr1:151996800-152000200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:151996800-152004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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