Variant report

Variant	rs1116
Chromosome Location	chr6:143814595-143814596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143809422..143811493-chr6:143814046..143815770,2	K562	blood:
2	chr6:143804354..143808777-chr6:143809039..143815242,7	K562	blood:
3	chr6:143795819..143798252-chr6:143812938..143815043,2	K562	blood:
4	chr6:143801323..143803862-chr6:143812529..143814618,2	K562	blood:

Variant related genes	Relation type
ENSG00000229036	Chromatin interaction
ENSG00000034693	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs161056	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs161058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs161061	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[ASN][1000 genomes]
rs161062	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs161065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs161066	0.94[ASN][1000 genomes]
rs161068	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs161069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[ASN][1000 genomes]
rs161072	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs161074	1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs161075	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[ASN][1000 genomes]
rs161076	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[ASN][1000 genomes]
rs161077	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[ASN][1000 genomes]
rs170343	0.96[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs223228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs223230	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs505481	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs509185	0.92[EUR][1000 genomes]
rs511839	0.92[EUR][1000 genomes]
rs528761	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8161	0.95[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.92[EUR][1000 genomes]
rs9390095	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496646	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv965776	chr6:143811602-143816945	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1116	PEX3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143772600-143832000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:143772800-143815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:143772800-143821200	Weak transcription	Psoas Muscle	Psoas
4	chr6:143773000-143814600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:143773000-143814800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:143773000-143815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:143773000-143815000	Weak transcription	Colonic Mucosa	Colon
8	chr6:143773200-143827000	Weak transcription	Brain Germinal Matrix	brain
9	chr6:143773400-143814600	Weak transcription	HUVEC	blood vessel
10	chr6:143773400-143814800	Weak transcription	Hela-S3	cervix
11	chr6:143773400-143815000	Weak transcription	A549	lung
12	chr6:143773400-143818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:143773400-143832000	Weak transcription	Fetal Brain Male	brain
14	chr6:143774400-143819400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:143779000-143818200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:143779200-143816800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:143781000-143832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:143783000-143814600	Weak transcription	Fetal Intestine Small	intestine
19	chr6:143783200-143818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:143784600-143814800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:143784800-143814800	Weak transcription	NHLF	lung
22	chr6:143790200-143814800	Weak transcription	Small Intestine	intestine
23	chr6:143790200-143831600	Weak transcription	Esophagus	oesophagus
24	chr6:143790200-143831600	Weak transcription	Gastric	stomach
25	chr6:143792800-143814800	Weak transcription	NHDF-Ad	bronchial
26	chr6:143793600-143819400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:143794000-143814600	Weak transcription	NH-A	brain
28	chr6:143794400-143814800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:143794400-143814800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:143794400-143816000	Weak transcription	Brain Substantia Nigra	brain
31	chr6:143794600-143814800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:143794600-143819400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:143794800-143817800	Weak transcription	HSMMtube	muscle
34	chr6:143795200-143827400	Weak transcription	Aorta	Aorta
35	chr6:143795400-143814800	Weak transcription	Osteobl	bone
36	chr6:143795800-143831800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:143796600-143814600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:143796600-143814600	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:143797000-143814800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:143797000-143826600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:143797400-143814600	Weak transcription	HepG2	liver
42	chr6:143797400-143815200	Weak transcription	Fetal Lung	lung
43	chr6:143797400-143819200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:143797600-143814600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:143797600-143814600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:143797600-143831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:143798000-143814800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:143798000-143817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:143798200-143819400	Weak transcription	Fetal Thymus	thymus
50	chr6:143798400-143819400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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