Variant report

Variant	rs72882534
Chromosome Location	chr18:6732210-6732211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:6725447..6727785-chr18:6730502..6732481,2	K562	blood:
2	chr18:6725183..6727933-chr18:6730767..6732565,3	K562	blood:
3	chr18:6685044..6687268-chr18:6731388..6733678,2	K562	blood:
4	chr18:6731530..6734164-chr18:6740298..6742070,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4334377	0.84[EUR][1000 genomes]
rs4449029	0.84[EUR][1000 genomes]
rs72880738	1.00[EUR][1000 genomes]
rs72880741	1.00[EUR][1000 genomes]
rs72882537	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72882571	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72882574	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72882592	0.84[EUR][1000 genomes]
rs72882597	0.85[AMR][1000 genomes]
rs72884504	0.87[AMR][1000 genomes];0.84[EUR][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	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1057885	chr18:6598684-6754548	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6730200-6735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:6730200-6747800	Weak transcription	Left Ventricle	heart
3	chr18:6730400-6735600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:6730800-6733000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:6730800-6733000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr18:6730800-6733800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:6730800-6734800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:6730800-6738800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:6730800-6740400	Weak transcription	Psoas Muscle	Psoas
10	chr18:6730800-6740800	Weak transcription	Right Atrium	heart
11	chr18:6731200-6732800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr18:6731200-6732800	Enhancers	Fetal Muscle Leg	muscle
13	chr18:6731200-6733200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:6731200-6735600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:6731400-6732400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:6731400-6732400	Enhancers	Fetal Stomach	stomach
17	chr18:6731400-6732600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:6731600-6732400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr18:6731600-6732800	Enhancers	Ovary	ovary
20	chr18:6731600-6732800	Enhancers	Pancreas	Pancrea
21	chr18:6731600-6733000	Enhancers	Adipose Nuclei	Adipose
22	chr18:6731600-6735400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr18:6731600-6735600	Weak transcription	Fetal Kidney	kidney
24	chr18:6731600-6741000	Weak transcription	K562	blood
25	chr18:6731800-6732400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:6731800-6732400	Enhancers	Fetal Intestine Small	intestine
27	chr18:6731800-6732400	Enhancers	HSMM	muscle
28	chr18:6731800-6732800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr18:6731800-6733000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:6731800-6733000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:6731800-6733000	Enhancers	HUVEC	blood vessel
32	chr18:6731800-6733200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:6731800-6733200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:6731800-6733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:6731800-6733800	Active TSS	Fetal Lung	lung
36	chr18:6731800-6734600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr18:6731800-6736000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr18:6731800-6737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:6731800-6738000	Weak transcription	HMEC	breast
40	chr18:6731800-6739800	Weak transcription	Placenta	Placenta
41	chr18:6731800-6743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:6732000-6732400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr18:6732000-6732400	Enhancers	NHDF-Ad	bronchial
44	chr18:6732000-6732600	Enhancers	Duodenum Mucosa	Duodenum
45	chr18:6732000-6733000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:6732000-6733000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:6732000-6733000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:6732000-6733800	Weak transcription	Fetal Brain Male	brain
49	chr18:6732000-6735800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr18:6732000-6737600	Weak transcription	HSMMtube	muscle

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