Variant report

Variant	rs6909988
Chromosome Location	chr6:36856342-36856343
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36856213..36857757-chr6:36880453..36883073,2	MCF-7	breast:
2	chr6:36855815..36857675-chr6:36943714..36945345,2	K562	blood:
3	chr6:36829835..36831683-chr6:36855504..36857194,2	K562	blood:
4	chr6:36803997..36809047-chr6:36852852..36856509,4	K562	blood:
5	chr6:36852175..36855710-chr6:36855896..36859725,4	MCF-7	breast:
6	chr6:36816600..36820003-chr6:36855117..36857436,3	K562	blood:
7	chr6:36853647..36856578-chr6:36948651..36952350,3	K562	blood:
8	chr6:36856253..36859191-chr6:36932885..36935045,2	K562	blood:
9	chr6:36854706..36858515-chr6:36943714..36946707,4	K562	blood:
10	chr6:36855075..36856594-chr6:36876039..36877935,2	MCF-7	breast:
11	chr6:36560243..36562699-chr6:36853442..36856379,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198663	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000124772	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	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293393	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303993	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236349	0.87[ASN][1000 genomes]
rs236352	0.96[ASN][1000 genomes]
rs3756905	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778016	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778017	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846871	0.95[ASN][1000 genomes]
rs449840	0.83[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	0.96[ASN][1000 genomes]
rs62406643	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457963	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6910832	0.96[ASN][1000 genomes]
rs6914008	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[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	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380616	0.98[ASN][1000 genomes]
rs9380618	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380626	0.86[ASN][1000 genomes]
rs9462233	0.82[AFR][1000 genomes]
rs9470426	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[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
rs6909988	PPIL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36854200-36856600	Weak transcription	Pancreas	Pancrea
2	chr6:36854200-36860200	Weak transcription	Spleen	Spleen
3	chr6:36854200-36862200	Weak transcription	Lung	lung
4	chr6:36854200-36868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:36854200-36873600	Weak transcription	Aorta	Aorta
6	chr6:36854200-36881000	Weak transcription	Gastric	stomach
7	chr6:36854200-36887400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:36854400-36858000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:36854400-36860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:36854400-36868400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:36854400-36893000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:36854600-36856400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:36854600-36857400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:36854600-36859800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:36854600-36869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:36854600-36870000	Weak transcription	Stomach Mucosa	stomach
17	chr6:36854800-36856400	Weak transcription	Ovary	ovary
18	chr6:36854800-36856600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:36854800-36856600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:36854800-36856800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:36854800-36857000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:36854800-36858000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:36854800-36858200	Enhancers	Fetal Heart	heart
24	chr6:36854800-36860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:36854800-36860000	Weak transcription	Fetal Stomach	stomach
26	chr6:36854800-36861400	Weak transcription	Placenta	Placenta
27	chr6:36854800-36866600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:36854800-36868400	Weak transcription	Brain Germinal Matrix	brain
29	chr6:36854800-36870000	Weak transcription	Colonic Mucosa	Colon
30	chr6:36854800-36875200	Weak transcription	Esophagus	oesophagus
31	chr6:36854800-36881000	Weak transcription	A549	lung
32	chr6:36854800-36882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:36854800-36884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:36855000-36859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:36855000-36859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:36855000-36859800	Weak transcription	Fetal Intestine Small	intestine
37	chr6:36855000-36859800	Weak transcription	Osteobl	bone
38	chr6:36855000-36860000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:36855000-36860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:36855000-36860000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:36855000-36860000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr6:36855000-36862000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:36855000-36862200	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:36855000-36862200	Weak transcription	Fetal Intestine Large	intestine
45	chr6:36855000-36862200	Weak transcription	HMEC	breast
46	chr6:36855000-36862200	Weak transcription	HSMM	muscle
47	chr6:36855000-36862200	Weak transcription	HSMMtube	muscle
48	chr6:36855000-36866600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:36855000-36866600	Weak transcription	HUVEC	blood vessel
50	chr6:36855000-36866800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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