Variant report

Variant	rs72917922
Chromosome Location	chr3:67692950-67692951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:67689171..67691000-chr3:67691714..67693901,2	MCF-7	breast:
2	chr3:67692273..67695539-chr3:67703678..67707123,3	MCF-7	breast:
3	chr3:67690704..67693010-chr3:67695548..67697113,2	K562	blood:
4	chr3:67692723..67696784-chr3:67696803..67701487,5	K562	blood:

Variant related genes	Relation type
ENSG00000241316	Chromatin interaction
ENSG00000172340	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11127674	1.00[EUR][1000 genomes]
rs13318110	1.00[EUR][1000 genomes]
rs17046807	1.00[EUR][1000 genomes]
rs2634726	1.00[EUR][1000 genomes]
rs58304740	1.00[EUR][1000 genomes]
rs60234547	1.00[EUR][1000 genomes]
rs60497893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6775101	1.00[EUR][1000 genomes]
rs6795974	1.00[EUR][1000 genomes]
rs6798231	1.00[EUR][1000 genomes]
rs72917913	1.00[EUR][1000 genomes]
rs9828107	1.00[EUR][1000 genomes]
rs9846683	1.00[EUR][1000 genomes]
rs9852077	1.00[EUR][1000 genomes]
rs9867357	1.00[EUR][1000 genomes]
rs9868744	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv428739	chr3:67656829-67730379	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
2	chr3:67631400-67700200	Weak transcription	K562	blood
3	chr3:67659800-67697400	Weak transcription	Colonic Mucosa	Colon
4	chr3:67660000-67697200	Weak transcription	Lung	lung
5	chr3:67660000-67697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:67661200-67704000	Weak transcription	Fetal Kidney	kidney
7	chr3:67661400-67699400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:67661400-67700000	Weak transcription	Ovary	ovary
9	chr3:67661400-67701000	Weak transcription	Fetal Lung	lung
10	chr3:67661400-67704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:67661600-67703600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:67662600-67693000	Weak transcription	HepG2	liver
13	chr3:67668400-67699600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:67668600-67696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:67670200-67703400	Weak transcription	Aorta	Aorta
16	chr3:67670400-67694000	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:67670600-67696200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:67670600-67699000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:67670800-67703200	Weak transcription	Adipose Nuclei	Adipose
20	chr3:67671000-67700600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:67671800-67697800	Weak transcription	Dnd41	blood
22	chr3:67673800-67696800	Weak transcription	Fetal Intestine Large	intestine
23	chr3:67673800-67703400	Weak transcription	Fetal Thymus	thymus
24	chr3:67674000-67696600	Weak transcription	Fetal Stomach	stomach
25	chr3:67674000-67704000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:67675600-67693200	Weak transcription	Brain Substantia Nigra	brain
27	chr3:67675800-67693000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:67681400-67703600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:67681800-67693200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:67681800-67695600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:67681800-67698800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:67681800-67704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:67684800-67697200	Weak transcription	Esophagus	oesophagus
34	chr3:67685400-67697600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:67685800-67695400	Weak transcription	HUVEC	blood vessel
36	chr3:67685800-67697200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:67686200-67697200	Weak transcription	Stomach Mucosa	stomach
38	chr3:67686200-67698200	Weak transcription	Right Ventricle	heart
39	chr3:67686400-67696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:67686400-67696600	Weak transcription	Right Atrium	heart
41	chr3:67686600-67697200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:67686600-67697200	Weak transcription	HMEC	breast
43	chr3:67686600-67697200	Weak transcription	NHLF	lung
44	chr3:67686600-67703600	Weak transcription	Fetal Heart	heart
45	chr3:67686600-67704000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:67686800-67693200	Weak transcription	NHEK	skin
47	chr3:67686800-67697200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:67686800-67698600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:67686800-67703400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:67686800-67703400	Weak transcription	H9 Cell Line	embryonic stem cell

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