Variant report

Variant	rs73240536
Chromosome Location	chr4:57154460-57154461
allele	G/T
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:5)

rs_ID	r²[population]
rs10002513	1.00[ASN][1000 genomes]
rs1531586	1.00[ASN][1000 genomes]
rs2045982	1.00[ASN][1000 genomes]
rs28465616	1.00[ASN][1000 genomes]
rs9994190	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57098800-57158400	Weak transcription	Fetal Brain Female	brain
2	chr4:57133800-57162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:57140800-57155800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:57143200-57154600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:57149400-57179400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:57149600-57156000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:57149800-57155200	Weak transcription	Fetal Brain Male	brain
8	chr4:57149800-57155800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:57149800-57156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:57149800-57156000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:57149800-57159600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:57150200-57156600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:57150400-57157000	Weak transcription	Brain Germinal Matrix	brain
14	chr4:57151400-57156800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:57152200-57155800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:57152200-57155800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:57152200-57156000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:57152200-57158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:57152200-57166200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:57152200-57173600	Weak transcription	Fetal Stomach	stomach
21	chr4:57153200-57155600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:57153400-57155600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:57153400-57156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:57154000-57154600	Weak transcription	Fetal Intestine Small	intestine
25	chr4:57154000-57155200	Enhancers	Stomach Mucosa	stomach
26	chr4:57154000-57158200	Enhancers	Primary T cells from cord blood	blood
27	chr4:57154400-57155600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:57154400-57155600	Enhancers	HUVEC	blood vessel
29	chr4:57154400-57155800	Weak transcription	Fetal Thymus	thymus

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