Variant report

Variant	rs72885796
Chromosome Location	chr2:48476929-48476930
allele	A/C/G
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: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17037226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17039245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56806229	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59044598	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60644316	0.83[AFR][1000 genomes]
rs61405465	1.00[AMR][1000 genomes]
rs6545032	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707607	1.00[AMR][1000 genomes]
rs6709977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6711828	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728719	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6731708	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6750166	1.00[AMR][1000 genomes]
rs6751375	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882131	1.00[AMR][1000 genomes]
rs72882141	1.00[AMR][1000 genomes]
rs72882148	1.00[AMR][1000 genomes]
rs72883965	1.00[AMR][1000 genomes]
rs72883976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883981	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885740	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885750	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887610	0.84[AFR][1000 genomes]
rs72889604	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889610	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7557354	1.00[AMR][1000 genomes]
rs7606543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9678904	0.81[AFR][1000 genomes];1.00[AMR][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48474200-48477200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:48474800-48477600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:48474800-48477600	Enhancers	Fetal Stomach	stomach
4	chr2:48474800-48479000	Enhancers	GM12878-XiMat	blood
5	chr2:48475200-48477200	Enhancers	HMEC	breast
6	chr2:48475200-48477400	Enhancers	HUVEC	blood vessel
7	chr2:48475400-48477000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:48475400-48477200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:48475400-48477400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:48475400-48477400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:48475400-48477400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:48475400-48477400	Enhancers	Fetal Heart	heart
13	chr2:48475400-48477400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:48475400-48477400	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:48475400-48477400	Enhancers	Right Ventricle	heart
16	chr2:48475400-48478000	Enhancers	Fetal Brain Male	brain
17	chr2:48475400-48478000	Enhancers	Fetal Muscle Leg	muscle
18	chr2:48475400-48478200	Enhancers	Placenta	Placenta
19	chr2:48475400-48487200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:48475600-48477200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:48475600-48477400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:48475800-48477000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:48475800-48477000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:48475800-48477000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:48475800-48477200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:48475800-48477200	Enhancers	Fetal Kidney	kidney
27	chr2:48475800-48477400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:48475800-48477400	Enhancers	Brain Angular Gyrus	brain
29	chr2:48475800-48477400	Enhancers	Ovary	ovary
30	chr2:48475800-48477600	Enhancers	Adipose Nuclei	Adipose
31	chr2:48475800-48478000	Enhancers	Fetal Intestine Small	intestine
32	chr2:48476000-48477200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:48476000-48477400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:48476000-48477400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:48476000-48477400	Enhancers	Brain Anterior Caudate	brain
36	chr2:48476000-48477400	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:48476000-48478400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:48476000-48478400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:48476000-48479000	Enhancers	Fetal Intestine Large	intestine
40	chr2:48476200-48477400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:48476200-48477400	Enhancers	Aorta	Aorta
42	chr2:48476200-48477400	Enhancers	Right Atrium	heart
43	chr2:48476200-48477600	Enhancers	Brain Substantia Nigra	brain
44	chr2:48476200-48478200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:48476200-48482000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:48476400-48477000	Enhancers	NHDF-Ad	bronchial
47	chr2:48476400-48477400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:48476400-48477400	Enhancers	A549	lung
49	chr2:48476400-48477600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:48476400-48477600	Enhancers	Small Intestine	intestine

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