Variant report

Variant	rs4957352
Chromosome Location	chr5:40787523-40787524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40772744..40775681-chr5:40786682..40789617,2	K562	blood:
2	chr5:40786279..40787857-chr5:40833689..40835898,2	MCF-7	breast:
3	chr5:40785220..40789232-chr5:40791780..40795190,3	K562	blood:
4	chr5:40786686..40788567-chr5:40833577..40836456,2	K562	blood:
5	chr5:40773990..40775613-chr5:40787064..40789947,2	MCF-7	breast:
6	chr5:40783804..40787738-chr5:40796693..40801758,5	K562	blood:
7	chr5:40786316..40788654-chr5:40789788..40791348,2	K562	blood:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000212567	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001684	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1002423	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1002424	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041430	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10071679	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10074991	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122655	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11956019	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11956047	0.84[AMR][1000 genomes]
rs11957736	0.81[AFR][1000 genomes]
rs13361707	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329353	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28544962	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805487	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3805495	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805497	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58692207	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58751240	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59133000	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59338019	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59585832	0.99[ASN][1000 genomes]
rs6868517	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7702883	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7705504	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4957352	RPL37,SNORD72	cis	brain	BrainEAC

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40756200-40797200	Weak transcription	Gastric	stomach
2	chr5:40756400-40797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:40765400-40796600	Weak transcription	Right Ventricle	heart
4	chr5:40765600-40796600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:40771600-40788600	Weak transcription	Fetal Stomach	stomach
6	chr5:40773000-40788200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:40776200-40797000	Weak transcription	Colonic Mucosa	Colon
8	chr5:40776600-40787600	Weak transcription	Hela-S3	cervix
9	chr5:40777000-40787800	Weak transcription	HMEC	breast
10	chr5:40777000-40788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:40777000-40788200	Weak transcription	Brain Anterior Caudate	brain
12	chr5:40777000-40789400	Weak transcription	Fetal Heart	heart
13	chr5:40777000-40796600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:40777000-40796600	Weak transcription	Thymus	Thymus
15	chr5:40777000-40796800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:40777000-40797000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:40777200-40787800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:40777200-40787800	Weak transcription	Primary B cells from cord blood	blood
19	chr5:40777200-40787800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:40777200-40788000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:40777200-40788000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:40777200-40788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:40777200-40788200	Weak transcription	Primary T cells from cord blood	blood
24	chr5:40777200-40788200	Weak transcription	Dnd41	blood
25	chr5:40777200-40791400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:40777200-40796000	Weak transcription	Lung	lung
27	chr5:40777200-40796600	Weak transcription	Fetal Thymus	thymus
28	chr5:40777200-40796800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:40777400-40787800	Weak transcription	Fetal Brain Female	brain
30	chr5:40777600-40788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:40777600-40789400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:40777600-40792000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:40777600-40792800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:40777600-40795200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:40777600-40795600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:40777800-40788400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:40777800-40789600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:40777800-40795600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:40777800-40796600	Weak transcription	NH-A	brain
40	chr5:40778000-40795400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:40781000-40791200	Weak transcription	NHEK	skin
42	chr5:40781000-40796800	Weak transcription	Aorta	Aorta
43	chr5:40782400-40787600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:40782400-40788400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:40782400-40788400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:40782400-40790000	Weak transcription	Left Ventricle	heart
47	chr5:40782400-40791400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:40782400-40795600	Weak transcription	NHLF	lung
49	chr5:40782600-40787800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:40782600-40787800	Weak transcription	Muscle Satellite Cultured Cells	--

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