Variant report

Variant	rs34853551
Chromosome Location	chr18:6739101-6739102
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	chr18:6683030..6685856-chr18:6737464..6739886,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12604284	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12961988	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12964207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12968963	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941483	0.84[EUR][1000 genomes]
rs34260331	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35420527	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421357	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35428251	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35523650	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56033241	0.84[EUR][1000 genomes]
rs62081455	0.84[EUR][1000 genomes]
rs6506424	0.84[EUR][1000 genomes]
rs6506425	0.85[EUR][1000 genomes]
rs6506426	0.85[EUR][1000 genomes]
rs7230951	0.85[EUR][1000 genomes]
rs7235305	0.84[EUR][1000 genomes]
rs7235377	0.85[EUR][1000 genomes]
rs7235980	0.85[EUR][1000 genomes]
rs7238807	0.85[EUR][1000 genomes]
rs7238970	0.84[EUR][1000 genomes]
rs7239845	0.85[EUR][1000 genomes]
rs8091010	0.84[EUR][1000 genomes]
rs8093864	0.85[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6730200-6747800	Weak transcription	Left Ventricle	heart
2	chr18:6730800-6740400	Weak transcription	Psoas Muscle	Psoas
3	chr18:6730800-6740800	Weak transcription	Right Atrium	heart
4	chr18:6731600-6741000	Weak transcription	K562	blood
5	chr18:6731800-6739800	Weak transcription	Placenta	Placenta
6	chr18:6731800-6743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:6732000-6740200	Weak transcription	NHLF	lung
8	chr18:6732400-6740600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:6732600-6740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:6732800-6740200	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:6732800-6740600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr18:6732800-6740800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:6733000-6740000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:6733000-6740800	Weak transcription	Adipose Nuclei	Adipose
15	chr18:6735000-6743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:6735800-6740200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:6736000-6740200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:6736000-6740200	Weak transcription	Ovary	ovary
19	chr18:6736000-6740600	Weak transcription	Fetal Stomach	stomach
20	chr18:6736000-6740800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr18:6736000-6740800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:6736000-6745600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:6736000-6761400	Weak transcription	Spleen	Spleen
24	chr18:6736200-6740600	Weak transcription	Fetal Kidney	kidney
25	chr18:6737000-6739200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr18:6737200-6739400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:6737400-6739200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:6737600-6739200	Enhancers	Fetal Heart	heart
29	chr18:6737800-6739200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:6738000-6739200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr18:6738200-6740000	Weak transcription	NHDF-Ad	bronchial
32	chr18:6738200-6740200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:6738200-6740200	Weak transcription	HUVEC	blood vessel
34	chr18:6738200-6740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:6738200-6740400	Weak transcription	HSMMtube	muscle
36	chr18:6738200-6740600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr18:6738200-6740600	Weak transcription	HMEC	breast
38	chr18:6738200-6740600	Weak transcription	Osteobl	bone
39	chr18:6738200-6740800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:6738400-6739400	Genic enhancers	Fetal Lung	lung
41	chr18:6738800-6740600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:6738800-6740800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:6738800-6740800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr18:6738800-6740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr18:6738800-6743000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:6739000-6739200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr18:6739000-6740200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:6739000-6740200	Weak transcription	HSMM	muscle
49	chr18:6739000-6740200	Weak transcription	NH-A	brain
50	chr18:6739000-6740400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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