Variant report

Variant	rs72885791
Chromosome Location	chr2:48476743-48476744
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	chr2:48475464..48477949-chr2:48504616..48506328,2	K562	blood:
2	chr2:48475740..48478459-chr2:48481350..48483573,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10451621	1.00[AMR][1000 genomes]
rs11680162	0.89[AFR][1000 genomes]
rs11695923	0.85[AFR][1000 genomes]
rs11895219	0.91[AMR][1000 genomes]
rs11898096	0.81[AMR][1000 genomes]
rs11899593	0.84[AFR][1000 genomes]
rs17037218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2014675	0.87[AFR][1000 genomes]
rs59161218	0.90[AFR][1000 genomes]
rs6712598	0.85[AFR][1000 genomes]
rs6713017	0.85[AFR][1000 genomes]
rs72885797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7569346	0.84[AFR][1000 genomes]
rs7571905	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48474200-48477200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:48474400-48476800	Enhancers	HepG2	liver
3	chr2:48474800-48477600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:48474800-48477600	Enhancers	Fetal Stomach	stomach
5	chr2:48474800-48479000	Enhancers	GM12878-XiMat	blood
6	chr2:48475200-48477200	Enhancers	HMEC	breast
7	chr2:48475200-48477400	Enhancers	HUVEC	blood vessel
8	chr2:48475400-48476800	Enhancers	Liver	Liver
9	chr2:48475400-48476800	Enhancers	Colon Smooth Muscle	Colon
10	chr2:48475400-48476800	Enhancers	Fetal Lung	lung
11	chr2:48475400-48476800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:48475400-48477000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:48475400-48477200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:48475400-48477400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:48475400-48477400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:48475400-48477400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:48475400-48477400	Enhancers	Fetal Heart	heart
18	chr2:48475400-48477400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:48475400-48477400	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:48475400-48477400	Enhancers	Right Ventricle	heart
21	chr2:48475400-48478000	Enhancers	Fetal Brain Male	brain
22	chr2:48475400-48478000	Enhancers	Fetal Muscle Leg	muscle
23	chr2:48475400-48478200	Enhancers	Placenta	Placenta
24	chr2:48475400-48487200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:48475600-48476800	Weak transcription	Left Ventricle	heart
26	chr2:48475600-48477200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:48475600-48477400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:48475800-48477000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:48475800-48477000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:48475800-48477000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:48475800-48477200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:48475800-48477200	Enhancers	Fetal Kidney	kidney
33	chr2:48475800-48477400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:48475800-48477400	Enhancers	Brain Angular Gyrus	brain
35	chr2:48475800-48477400	Enhancers	Ovary	ovary
36	chr2:48475800-48477600	Enhancers	Adipose Nuclei	Adipose
37	chr2:48475800-48478000	Enhancers	Fetal Intestine Small	intestine
38	chr2:48476000-48477200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:48476000-48477400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:48476000-48477400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:48476000-48477400	Enhancers	Brain Anterior Caudate	brain
42	chr2:48476000-48477400	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:48476000-48478400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:48476000-48478400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr2:48476000-48479000	Enhancers	Fetal Intestine Large	intestine
46	chr2:48476200-48476800	Enhancers	Psoas Muscle	Psoas
47	chr2:48476200-48477400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:48476200-48477400	Enhancers	Aorta	Aorta
49	chr2:48476200-48477400	Enhancers	Right Atrium	heart
50	chr2:48476200-48477600	Enhancers	Brain Substantia Nigra	brain

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