Variant report

Variant	rs59161426
Chromosome Location	chr4:57184161-57184162
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	chr4:57182829..57184444-chr4:57184985..57187563,2	K562	blood:

Variant related genes	Relation type
ENSG00000250324	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17086746	0.82[ASN][1000 genomes]
rs17086755	0.80[ASN][1000 genomes]
rs2292984	0.86[ASN][1000 genomes]
rs34228795	0.85[ASN][1000 genomes]
rs34543011	0.85[ASN][1000 genomes]
rs3796543	0.88[ASN][1000 genomes]
rs73155895	0.82[ASN][1000 genomes]
rs73155901	0.80[ASN][1000 genomes]
rs73159951	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73159954	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73159959	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73159992	0.88[ASN][1000 genomes]
rs73162272	0.86[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57162800-57189400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:57167600-57203400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:57167800-57218600	Weak transcription	Small Intestine	intestine
4	chr4:57171000-57187400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:57172000-57204000	Weak transcription	Stomach Mucosa	stomach
6	chr4:57173200-57202800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:57173800-57185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:57174400-57195000	Strong transcription	Fetal Intestine Small	intestine
9	chr4:57174400-57203800	Weak transcription	Fetal Kidney	kidney
10	chr4:57174600-57197200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr4:57176000-57190000	Weak transcription	Gastric	stomach
12	chr4:57177400-57185200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:57177600-57215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:57177800-57184200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:57178000-57190400	Weak transcription	Brain Angular Gyrus	brain
16	chr4:57178200-57184400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:57178200-57189400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:57178200-57189800	Weak transcription	Brain Anterior Caudate	brain
19	chr4:57178200-57190000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:57178200-57190200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:57178200-57211800	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:57178600-57190200	Weak transcription	Fetal Brain Male	brain
23	chr4:57178800-57187000	Strong transcription	Fetal Brain Female	brain
24	chr4:57179200-57186200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:57180400-57189800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:57180600-57190000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:57180800-57191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:57180800-57197200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:57181000-57186600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:57181200-57190000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:57181200-57196400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:57181400-57203800	Weak transcription	HSMMtube	muscle
33	chr4:57181600-57189800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:57181800-57191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:57181800-57196200	Strong transcription	Fetal Intestine Large	intestine
36	chr4:57182200-57189800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:57182600-57184200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:57182800-57185400	Enhancers	Fetal Lung	lung
39	chr4:57182800-57189600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:57182800-57196800	Weak transcription	Ovary	ovary
41	chr4:57183000-57186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:57183000-57186800	Weak transcription	Placenta	Placenta
43	chr4:57183000-57187000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:57183000-57189200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:57183000-57190200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:57183000-57193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:57183200-57189600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:57183200-57189600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:57183200-57194400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:57183400-57184600	Genic enhancers	Brain Germinal Matrix	brain

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