Variant report

Variant	rs4551194
Chromosome Location	chr6:160558688-160558689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160558415..160560977-chr6:160562640..160565543,2	K562	blood:
2	chr6:160552829..160554455-chr6:160557488..160559667,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1867350	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1867351	0.85[ASN][1000 genomes]
rs1871388	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297366	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2297370	0.82[ASN][1000 genomes]
rs2297371	0.82[ASN][1000 genomes]
rs3798168	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798169	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798173	0.95[ASN][1000 genomes]
rs4646273	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646274	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646275	0.81[ASN][1000 genomes]
rs4646276	0.85[ASN][1000 genomes]
rs58458113	0.83[ASN][1000 genomes]
rs7769472	0.84[ASN][1000 genomes]
rs9347385	0.83[ASN][1000 genomes]
rs9365132	0.83[ASN][1000 genomes]
rs9365133	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv886807	chr6:160549080-160559234	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv533582	chr6:160554084-160579554	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv33283	chr6:160557317-160560903	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160529400-160559200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:160539400-160559400	Weak transcription	Brain Angular Gyrus	brain
3	chr6:160539400-160559400	Weak transcription	HSMMtube	muscle
4	chr6:160539400-160559600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:160539400-160580400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:160539600-160574600	Weak transcription	Adipose Nuclei	Adipose
7	chr6:160540200-160576200	Weak transcription	Right Ventricle	heart
8	chr6:160540400-160568800	Weak transcription	Esophagus	oesophagus
9	chr6:160543200-160561400	Weak transcription	Right Atrium	heart
10	chr6:160545000-160559000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:160546000-160559200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:160546400-160560200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:160548200-160560000	Weak transcription	Aorta	Aorta
14	chr6:160549600-160559600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:160554200-160559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:160554200-160559400	Weak transcription	Osteobl	bone
17	chr6:160554200-160559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:160554400-160559200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:160554400-160559400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:160554600-160558800	Weak transcription	Ovary	ovary
21	chr6:160554800-160582800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:160555400-160560200	Enhancers	Fetal Intestine Large	intestine
23	chr6:160556200-160559400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:160557000-160559200	Enhancers	Pancreas	Pancrea
25	chr6:160557200-160558800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:160558000-160559200	Enhancers	Gastric	stomach
27	chr6:160558000-160559400	Flanking Active TSS	HepG2	liver
28	chr6:160558000-160559600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:160558200-160559000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:160558200-160559200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:160558200-160559600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:160558200-160559800	Enhancers	Stomach Mucosa	stomach
33	chr6:160558400-160558800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:160558400-160559000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:160558400-160559000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:160558400-160559400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:160558400-160559400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:160558400-160559800	Enhancers	Fetal Intestine Small	intestine
39	chr6:160558400-160563800	Enhancers	A549	lung
40	chr6:160558600-160558800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr6:160558600-160559000	Flanking Active TSS	Liver	Liver
42	chr6:160558600-160559000	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:160558600-160559200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:160558600-160559400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:160558600-160559800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:160558600-160560000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:160558600-160560200	Weak transcription	Spleen	Spleen

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