Variant report

Variant	rs72666619
Chromosome Location	chr8:99495229-99495230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149223672..149226181-chr8:99494977..99496477,2	K562	blood:
2	chr8:99488977..99492664-chr8:99493319..99496807,5	MCF-7	breast:
3	chr8:99493136..99495767-chr8:99496191..99498729,2	MCF-7	breast:
4	chr8:99489060..99491357-chr8:99493782..99497773,3	K562	blood:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10282835	1.00[ASN][1000 genomes]
rs11785588	1.00[ASN][1000 genomes]
rs12386830	1.00[ASN][1000 genomes]
rs13277523	1.00[ASN][1000 genomes]
rs16896995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621642	1.00[ASN][1000 genomes]
rs34018826	1.00[ASN][1000 genomes]
rs4554439	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574821	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55793219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807423	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947965	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185259	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246659	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356780	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666643	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666649	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666652	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666655	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666661	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666665	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666666	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666673	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666676	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666678	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666684	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666685	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666688	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666689	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666690	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699303	1.00[ASN][1000 genomes]
rs7835203	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839115	1.00[ASN][1000 genomes]
rs7842869	0.90[EUR][1000 genomes];1.00[ASN][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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99479600-99504600	Weak transcription	NHEK	skin
3	chr8:99479800-99502800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
5	chr8:99490400-99547600	Weak transcription	Ovary	ovary
6	chr8:99490800-99499400	Weak transcription	Small Intestine	intestine
7	chr8:99491200-99497800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:99491200-99498600	Weak transcription	Fetal Lung	lung
9	chr8:99491400-99504800	Weak transcription	HSMMtube	muscle
10	chr8:99491600-99500000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:99492200-99498600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:99492400-99498800	Weak transcription	NHDF-Ad	bronchial
13	chr8:99492400-99499400	Weak transcription	A549	lung
14	chr8:99492600-99505600	Weak transcription	HSMM	muscle
15	chr8:99494000-99495400	Enhancers	Fetal Kidney	kidney
16	chr8:99494600-99495400	Enhancers	Osteobl	bone
17	chr8:99494600-99496000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:99494600-99496800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:99494800-99495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:99494800-99495400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:99494800-99496400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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