Variant report

Variant	rs34749389
Chromosome Location	chr4:57851461-57851462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57850899..57852464-chr4:57888501..57890167,2	K562	blood:
2	chr4:57849114..57851470-chr4:57866273..57869117,2	K562	blood:
3	chr4:57847527..57849310-chr4:57850020..57851620,2	MCF-7	breast:
4	chr4:57842821..57845222-chr4:57848302..57852353,5	MCF-7	breast:
5	chr4:57773779..57775624-chr4:57849367..57852363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084092	Chromatin interaction
ENSG00000084093	Chromatin interaction
ENSG00000047315	Chromatin interaction
ENSG00000251703	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002269	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10018580	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018619	0.85[EUR][1000 genomes]
rs10033214	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10034163	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11930475	0.92[EUR][1000 genomes]
rs11940411	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11947717	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13125046	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13133792	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13145285	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1568260	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17087332	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17087382	0.92[EUR][1000 genomes]
rs17181222	0.83[EUR][1000 genomes]
rs34278765	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34601747	0.81[AFR][1000 genomes]
rs35706166	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71601666	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71601672	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7440152	0.92[EUR][1000 genomes]
rs7659855	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7684271	0.92[EUR][1000 genomes]
rs9991234	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57846000-57852000	Weak transcription	Aorta	Aorta
2	chr4:57846000-57853600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:57846000-57855600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:57846000-57881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:57846200-57851800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:57846200-57851800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:57846200-57851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:57846200-57853000	Weak transcription	Fetal Kidney	kidney
9	chr4:57846200-57853600	Weak transcription	Esophagus	oesophagus
10	chr4:57846200-57861600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:57846200-57861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:57846600-57851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:57846600-57852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:57846600-57853200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:57846600-57861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:57846800-57852000	Weak transcription	NHDF-Ad	bronchial
17	chr4:57846800-57852200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:57846800-57852600	Weak transcription	HSMMtube	muscle
19	chr4:57846800-57900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:57847000-57851600	Weak transcription	Placenta	Placenta
21	chr4:57847000-57851600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:57847000-57853000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:57847000-57853800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:57847000-57853800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:57847000-57861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:57847200-57851800	Weak transcription	Brain Anterior Caudate	brain
27	chr4:57847200-57851800	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:57847200-57851800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:57847200-57853000	Weak transcription	Colonic Mucosa	Colon
30	chr4:57847200-57853400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:57847200-57853600	Weak transcription	Spleen	Spleen
32	chr4:57847600-57851600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:57847600-57851800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:57847600-57853800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:57847600-57856000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr4:57847800-57853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:57848000-57851600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:57848000-57852000	Weak transcription	Brain Substantia Nigra	brain
39	chr4:57848000-57861400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:57848200-57851800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:57848200-57852000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:57848200-57852600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:57848200-57853000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:57848400-57851800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:57848400-57851800	Weak transcription	Adipose Nuclei	Adipose
46	chr4:57848400-57851800	Weak transcription	Liver	Liver
47	chr4:57848400-57851800	Weak transcription	Fetal Brain Male	brain
48	chr4:57848400-57851800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:57848400-57851800	Weak transcription	NHLF	lung
50	chr4:57848400-57852000	Weak transcription	HSMM	muscle

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