Variant report

Variant	rs1264616
Chromosome Location	chr6:30264307-30264308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30264093-30264352	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30261501..30265546-chr6:30310228..30314438,4	K562	blood:
2	chr6:30258650..30265091-chr6:30270138..30274799,6	MCF-7	breast:
3	chr6:30263540..30265858-chr6:30292357..30294554,2	MCF-7	breast:

Variant related genes	Relation type
HCG18	TF binding region
ENSG00000270604	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000231074	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1045251	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060065	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1075105	0.80[AFR][1000 genomes]
rs1264619	0.80[AFR][1000 genomes]
rs1473102	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1579218	0.80[ASN][1000 genomes]
rs1579219	0.80[ASN][1000 genomes]
rs2023476	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023477	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2023478	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2057727	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074474	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2097773	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2285798	0.82[ASN][1000 genomes]
rs2394779	0.83[ASN][1000 genomes]
rs2394780	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508026	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2516697	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516699	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516700	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516702	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516704	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516705	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516706	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516707	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516710	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516713	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516718	0.83[AFR][1000 genomes]
rs2516719	0.82[AFR][1000 genomes]
rs2523737	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523744	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523745	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523746	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523747	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523748	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2523750	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs261943	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261948	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261949	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28360021	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28360023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844752	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844761	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844763	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844765	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894145	0.81[ASN][1000 genomes]
rs3778624	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778626	0.81[ASN][1000 genomes]
rs6904208	0.82[AFR][1000 genomes]
rs6912239	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6912495	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7452694	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7767817	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9295843	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9295844	0.83[ASN][1000 genomes]
rs9357095	0.83[ASN][1000 genomes]
rs9366755	0.82[ASN][1000 genomes]
rs9368628	0.83[ASN][1000 genomes]
rs9368632	0.83[ASN][1000 genomes]
rs9368633	0.83[ASN][1000 genomes]
rs9380168	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380174	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9391679	0.83[ASN][1000 genomes]
rs9391806	0.83[ASN][1000 genomes]
rs9391807	0.83[ASN][1000 genomes]
rs9393999	0.83[ASN][1000 genomes]
rs9394000	0.83[ASN][1000 genomes]
rs9394001	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9394002	0.81[ASN][1000 genomes]
rs9394003	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs962899	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs974963	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1264616	TRIM26	Cis_1M	lymphoblastoid	RTeQTL
rs1264616	FLJ45422	cis	multi-tissue	Pritchard
rs1264616	HCG18	Cis_1M	lymphoblastoid	RTeQTL
rs1264616	HCG18	cis	multi-tissue	Pritchard
rs1264616	LOC401245	cis	multi-tissue	Pritchard
rs1264616	HCG18	cis	normal skin	skin_eQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30255800-30264400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:30256000-30270200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:30256200-30264800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr6:30256200-30292000	Weak transcription	Fetal Heart	heart
5	chr6:30256400-30264400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:30256800-30264400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:30257000-30264400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:30257000-30264400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:30257000-30264400	Strong transcription	Fetal Thymus	thymus
10	chr6:30257200-30264400	Strong transcription	Primary T cells from cord blood	blood
11	chr6:30257200-30264600	Strong transcription	Fetal Muscle Leg	muscle
12	chr6:30257400-30264400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:30257600-30292800	Weak transcription	Fetal Kidney	kidney
14	chr6:30258400-30264400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:30258400-30264400	Strong transcription	Dnd41	blood
16	chr6:30258400-30265000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:30259000-30265200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:30259000-30287200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:30259200-30264400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:30259200-30264400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:30259400-30264400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:30259400-30264400	Strong transcription	Fetal Intestine Small	intestine
23	chr6:30259400-30264400	Strong transcription	K562	blood
24	chr6:30259800-30264400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:30260200-30264800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr6:30260200-30265000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:30260800-30264400	Strong transcription	Colon Smooth Muscle	Colon
28	chr6:30261200-30264400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:30261600-30264800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:30261800-30270000	Weak transcription	NHDF-Ad	bronchial
31	chr6:30262200-30270200	Weak transcription	Fetal Brain Male	brain
32	chr6:30262400-30264400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:30262400-30264800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:30262600-30264400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:30262600-30264600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:30262600-30269200	Weak transcription	Hela-S3	cervix
37	chr6:30262600-30270200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:30262600-30270200	Weak transcription	Colonic Mucosa	Colon
39	chr6:30262600-30270200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:30262600-30270400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:30262600-30271800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:30262600-30271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:30262600-30279200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:30262600-30279600	Weak transcription	Small Intestine	intestine
45	chr6:30262600-30292400	Weak transcription	Pancreas	Pancrea
46	chr6:30262800-30269400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:30262800-30280200	Weak transcription	HUVEC	blood vessel
48	chr6:30262800-30280400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:30262800-30283200	Weak transcription	NHLF	lung
50	chr6:30262800-30290200	Weak transcription	Spleen	Spleen

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