Variant report

Variant	rs34278765
Chromosome Location	chr4:57835198-57835199
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	chr4:57832993..57836325-chr4:57837117..57839570,3	K562	blood:
2	chr4:57831762..57836604-chr4:57841016..57847876,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084092	Chromatin interaction
ENSG00000047315	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10002269	0.82[EUR][1000 genomes]
rs10018580	0.86[EUR][1000 genomes]
rs10033214	0.82[EUR][1000 genomes]
rs10034163	0.86[EUR][1000 genomes]
rs11930325	0.81[AFR][1000 genomes]
rs11936394	0.82[AFR][1000 genomes]
rs11940411	0.89[AFR][1000 genomes]
rs11947717	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13125046	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13133792	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13145285	0.89[AFR][1000 genomes]
rs1568260	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17087291	0.94[AFR][1000 genomes]
rs17087332	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34601747	0.89[AFR][1000 genomes]
rs34749389	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35437996	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35529818	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35706166	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71601666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71601672	0.89[AFR][1000 genomes]
rs7659855	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9991234	0.86[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	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57820200-57836000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:57820200-57836000	Weak transcription	Esophagus	oesophagus
5	chr4:57824600-57838400	Weak transcription	Aorta	Aorta
6	chr4:57825600-57838600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:57826400-57839800	Strong transcription	Primary T cells from cord blood	blood
8	chr4:57826600-57835200	Strong transcription	Brain Anterior Caudate	brain
9	chr4:57826600-57838600	Strong transcription	Fetal Intestine Small	intestine
10	chr4:57826600-57838800	Strong transcription	Liver	Liver
11	chr4:57826600-57839000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:57826600-57839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:57826600-57840800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:57826600-57840800	Strong transcription	Fetal Brain Female	brain
15	chr4:57826600-57840800	Strong transcription	Fetal Muscle Leg	muscle
16	chr4:57826600-57840800	Strong transcription	Fetal Thymus	thymus
17	chr4:57826600-57841000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:57826600-57841400	Strong transcription	Fetal Intestine Large	intestine
19	chr4:57826800-57839000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:57826800-57840800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:57826800-57840800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:57826800-57840800	Weak transcription	Stomach Mucosa	stomach
23	chr4:57827000-57838400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:57827000-57840400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:57827000-57843200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:57827200-57835200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr4:57827200-57835400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:57827200-57838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:57827200-57838800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:57827200-57839000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:57827200-57840200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr4:57827200-57840400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:57827200-57840400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr4:57827200-57840600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:57827200-57840800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:57827200-57840800	Strong transcription	Dnd41	blood
37	chr4:57827200-57841000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:57827200-57841000	Strong transcription	Fetal Lung	lung
39	chr4:57827200-57841400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:57827400-57838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:57827400-57838800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:57827400-57838800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:57827400-57839600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:57827400-57839600	Strong transcription	Placenta	Placenta
45	chr4:57827400-57841000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:57827600-57835200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:57827600-57840200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:57827600-57840600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:57827800-57839200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:57827800-57839200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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