Variant report

Variant	rs2303993
Chromosome Location	chr6:36842427-36842428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36807524..36809361-chr6:36841077..36843091,2	K562	blood:
2	chr22:24255806..24256650-chr6:36842066..36842781,2	Hela-S3	cervix:
3	chr20:37063592..37064130-chr6:36842228..36842988,2	HCT-116	colon:
4	chr6:36842114..36842903-chr9:130213220..130213862,2	Hela-S3	cervix:
5	chr6:36840111..36842444-chr6:37018601..37020201,2	MCF-7	breast:
6	chr6:36839698..36842485-chr6:36952323..36954016,2	K562	blood:
7	chr6:36839147..36840656-chr6:36842294..36843831,2	MCF-7	breast:
8	chr6:36841771..36843991-chr6:36852556..36855136,3	MCF-7	breast:
9	chr6:36841338..36845965-chr6:36851992..36855231,4	MCF-7	breast:
10	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
11	chr6:36561980..36564185-chr6:36840792..36844090,3	K562	blood:
12	chr6:36735629..36738074-chr6:36841042..36842717,2	K562	blood:
13	chr6:36807086..36809328-chr6:36841078..36843476,3	K562	blood:
14	chr6:36562065..36563624-chr6:36841124..36842701,2	K562	blood:
15	chr6:36841093..36843369-chr6:37223969..37226953,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196756	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000172738	Chromatin interaction
ENSG00000065491	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000148356	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1150784	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2116447	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293393	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs236349	0.87[ASN][1000 genomes]
rs236352	0.96[ASN][1000 genomes]
rs3756905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778016	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778017	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846871	0.95[ASN][1000 genomes]
rs449840	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4594944	0.82[ASN][1000 genomes]
rs4714018	0.95[ASN][1000 genomes]
rs58214515	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62406643	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457963	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6909988	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910832	0.96[ASN][1000 genomes]
rs6914008	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934844	0.98[ASN][1000 genomes]
rs8472	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9366920	0.98[ASN][1000 genomes]
rs9368966	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380616	0.98[ASN][1000 genomes]
rs9380618	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380626	0.86[ASN][1000 genomes]
rs9462233	0.82[AFR][1000 genomes]
rs9470426	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2303993	PPIL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36841000-36843200	Active TSS	GM12878-XiMat	blood
2	chr6:36841200-36843200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:36841400-36843200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:36841400-36843200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:36841400-36843400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:36841400-36843400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:36841400-36843400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:36841600-36843200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:36841600-36843200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:36841600-36843200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:36841600-36843200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:36841600-36843200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:36841600-36843200	Active TSS	Psoas Muscle	Psoas
14	chr6:36841600-36843200	Active TSS	Small Intestine	intestine
15	chr6:36841600-36843400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:36841600-36843400	Active TSS	Right Atrium	heart
17	chr6:36841600-36843400	Active TSS	A549	lung
18	chr6:36841600-36843800	Active TSS	Fetal Muscle Trunk	muscle
19	chr6:36841800-36842800	Active TSS	Gastric	stomach
20	chr6:36841800-36843000	Active TSS	Esophagus	oesophagus
21	chr6:36841800-36843000	Active TSS	Fetal Brain Male	brain
22	chr6:36841800-36843000	Bivalent/Poised TSS	HepG2	liver
23	chr6:36841800-36843200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:36841800-36843200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:36841800-36843200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:36841800-36843200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:36841800-36843200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:36841800-36843200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:36841800-36843200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:36841800-36843200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:36841800-36843200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:36841800-36843200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:36841800-36843200	Active TSS	Ovary	ovary
34	chr6:36841800-36843200	Active TSS	Pancreas	Pancrea
35	chr6:36841800-36843200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr6:36841800-36843200	Active TSS	HMEC	breast
37	chr6:36841800-36843200	Active TSS	K562	blood
38	chr6:36841800-36843200	Active TSS	NHDF-Ad	bronchial
39	chr6:36841800-36843400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:36841800-36843400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:36841800-36843400	Active TSS	Fetal Intestine Large	intestine
42	chr6:36841800-36843400	Active TSS	Fetal Intestine Small	intestine
43	chr6:36841800-36843400	Active TSS	Fetal Kidney	kidney
44	chr6:36841800-36843400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:36841800-36843400	Active TSS	Left Ventricle	heart
46	chr6:36841800-36843600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:36841800-36843600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:36841800-36843600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:36841800-36843600	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr6:36842000-36842800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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