Variant report

Variant	rs17086269
Chromosome Location	chr4:56952927-56952928
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10001537	0.92[ASN][1000 genomes]
rs10015524	0.92[ASN][1000 genomes]
rs10019724	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9995243	0.89[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999328	chr4:56942917-57041586	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1007114	chr4:56942917-57055381	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56945600-56965200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:56947800-56957000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:56948800-56972200	Weak transcription	Fetal Stomach	stomach
4	chr4:56949000-56965200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:56951000-56953000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:56951000-56953200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:56951000-56953200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:56951000-56953600	Enhancers	Brain Germinal Matrix	brain
9	chr4:56951200-56953000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:56951800-56953000	Enhancers	Fetal Muscle Trunk	muscle
11	chr4:56951800-56953800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:56952000-56953000	Enhancers	Stomach Mucosa	stomach
13	chr4:56952000-56953200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:56952000-56961600	Weak transcription	Fetal Brain Female	brain
15	chr4:56952000-57024400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:56952200-56953000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:56952200-56953000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:56952200-56953000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:56952200-56953000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr4:56952200-56953600	Enhancers	HepG2	liver
21	chr4:56952200-56953800	Flanking Active TSS	Hela-S3	cervix
22	chr4:56952400-56954800	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:56952400-56961200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:56952600-56953000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:56952600-56957800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:56952600-56963200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:56952600-56965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:56952800-56953200	Enhancers	Duodenum Mucosa	Duodenum
29	chr4:56952800-56953400	Enhancers	Fetal Thymus	thymus
30	chr4:56952800-56953400	Enhancers	Thymus	Thymus
31	chr4:56952800-56955000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:56952800-56968400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:56952800-56978200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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