Variant report

Variant	rs72808422
Chromosome Location	chr2:47582692-47582693
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47579713..47583526-chr2:47593065..47596290,3	MCF-7	breast:
2	chr2:47580698..47583292-chr2:47629869..47631932,2	K562	blood:
3	chr2:47400796..47403030-chr2:47579687..47583145,3	K562	blood:
4	chr2:47576428..47578602-chr2:47580782..47583287,2	MCF-7	breast:
5	chr2:47572231..47576038-chr2:47579794..47584297,7	MCF-7	breast:
6	chr2:47572455..47576210-chr2:47579950..47583460,6	K562	blood:
7	chr2:47580625..47583469-chr2:47590041..47591979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119888	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000095002	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17036537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036544	0.88[ASN][1000 genomes]
rs35079997	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3923560	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4399765	0.88[ASN][1000 genomes]
rs4952884	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4952886	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4953495	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4953497	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4953498	0.89[EUR][1000 genomes]
rs55931899	0.88[ASN][1000 genomes]
rs56368712	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60417954	0.92[ASN][1000 genomes]
rs61348463	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61493074	0.87[ASN][1000 genomes]
rs62138459	1.00[ASN][1000 genomes]
rs66617176	0.86[ASN][1000 genomes]
rs72808419	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72810397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72812303	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72812306	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72812307	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7558107	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47574400-47584400	Weak transcription	Right Atrium	heart
2	chr2:47574800-47584200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:47575000-47586600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47578000-47583200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:47578200-47589600	Enhancers	Fetal Intestine Small	intestine
6	chr2:47579400-47584000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47579400-47584600	Weak transcription	Fetal Lung	lung
8	chr2:47579600-47584200	Weak transcription	Fetal Stomach	stomach
9	chr2:47580200-47589600	Enhancers	Fetal Intestine Large	intestine
10	chr2:47580600-47583000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:47580600-47588400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:47581000-47583000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:47581000-47584800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:47581200-47584200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:47581400-47582800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:47581400-47584400	Weak transcription	Spleen	Spleen
17	chr2:47581600-47582800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:47581600-47582800	Enhancers	NHEK	skin
19	chr2:47581600-47583200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:47581600-47584200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:47581800-47584200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:47581800-47584200	Weak transcription	Small Intestine	intestine
23	chr2:47581800-47584400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:47581800-47584400	Weak transcription	Colonic Mucosa	Colon
25	chr2:47582000-47582800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:47582000-47583000	Enhancers	Stomach Mucosa	stomach
27	chr2:47582000-47584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:47582000-47584200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:47582000-47584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:47582000-47584200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:47582200-47584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:47582200-47584200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:47582400-47582800	Enhancers	HepG2	liver
34	chr2:47582400-47583000	Enhancers	HUVEC	blood vessel
35	chr2:47582400-47583200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:47582400-47584000	Weak transcription	Osteobl	bone
37	chr2:47582400-47584400	Weak transcription	NHLF	lung
38	chr2:47582400-47585200	Enhancers	K562	blood
39	chr2:47582400-47588200	Weak transcription	NHDF-Ad	bronchial
40	chr2:47582600-47582800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:47582600-47582800	Enhancers	A549	lung
42	chr2:47582600-47584000	Weak transcription	HMEC	breast
43	chr2:47582600-47584200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:47582600-47584400	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links