Variant report

Variant	rs4865086
Chromosome Location	chr4:57190829-57190830
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	chr4:57188347..57191240-chr4:57253035..57255608,2	K562	blood:

Variant related genes	Relation type
ENSG00000157426	Chromatin interaction
ENSG00000269921	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12503885	0.90[ASN][1000 genomes]
rs12505749	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs1520025	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.85[ASN][1000 genomes]
rs17086758	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs4260596	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap]
rs60972582	0.80[ASN][1000 genomes]
rs6834384	0.87[ASN][1000 genomes]
rs7435941	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[ASN][1000 genomes]
rs7693436	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.80[ASN][1000 genomes]
rs9799408	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS 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	33 gene(s)	inside rSNPs	diseases
5	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
6	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57167600-57203400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:57167800-57218600	Weak transcription	Small Intestine	intestine
3	chr4:57172000-57204000	Weak transcription	Stomach Mucosa	stomach
4	chr4:57173200-57202800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:57174400-57195000	Strong transcription	Fetal Intestine Small	intestine
6	chr4:57174400-57203800	Weak transcription	Fetal Kidney	kidney
7	chr4:57174600-57197200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr4:57177600-57215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:57178200-57211800	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:57180800-57191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:57180800-57197200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:57181200-57196400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:57181400-57203800	Weak transcription	HSMMtube	muscle
14	chr4:57181800-57191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:57181800-57196200	Strong transcription	Fetal Intestine Large	intestine
16	chr4:57182800-57196800	Weak transcription	Ovary	ovary
17	chr4:57183000-57193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:57183200-57194400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:57184600-57211200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:57187200-57202600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:57187600-57191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:57187800-57192400	Weak transcription	HUVEC	blood vessel
23	chr4:57188400-57203600	Weak transcription	Fetal Lung	lung
24	chr4:57188600-57192800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:57188600-57197800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:57189000-57195800	Strong transcription	Brain Germinal Matrix	brain
27	chr4:57189200-57191800	Strong transcription	Fetal Brain Female	brain
28	chr4:57189400-57192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:57189400-57195800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:57189600-57191000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:57189600-57191000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:57189600-57192800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:57189600-57194000	Weak transcription	Placenta	Placenta
34	chr4:57189800-57191000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:57189800-57191200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:57190000-57191000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:57190200-57193000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:57190400-57191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:57190400-57191000	Strong transcription	Brain Angular Gyrus	brain
40	chr4:57190400-57191800	Strong transcription	Fetal Stomach	stomach
41	chr4:57190400-57203000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:57190400-57203200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr4:57190400-57203600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:57190400-57214400	Weak transcription	Brain Anterior Caudate	brain
45	chr4:57190600-57193800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:57190600-57194200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:57190600-57214600	Weak transcription	Brain Substantia Nigra	brain
48	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
49	chr4:57190800-57191200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:57190800-57192600	Weak transcription	Rectal Mucosa Donor 31	rectum

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