Variant report

Variant	rs3094076
Chromosome Location	chr6:30226305-30226306
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	RFX5	chr6:30226110-30228388	H1-hESC	embryonic stem cell:	n/a	chr6:30227308-30227317
2	MAFK	chr6:30226293-30226545	HepG2	liver:	n/a	n/a
3	RFX5	chr6:30225760-30229308	IMR90	lung:	n/a	chr6:30226089-30226097 chr6:30227308-30227317
4	RFX5	chr6:30225288-30228368	SK-N-SH	brain:	n/a	chr6:30226089-30226097 chr6:30227308-30227317
5	POLR2A	chr6:30225922-30226351	GM12892	blood:	n/a	n/a
6	MAZ	chr6:30226291-30228294	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30226094..30227681-chr6:30293299..30296159,2	MCF-7	breast:
2	chr6:30225449..30228967-chr6:30292795..30296377,4	K562	blood:
3	chr6:30224455..30226644-chr6:30292386..30294096,2	MCF-7	breast:
4	chr6:30225542..30228363-chr6:30311426..30313496,2	MCF-7	breast:

Variant related genes	Relation type
HLA-L	TF binding region
ENSG00000231074	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000270604	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs17188470	1.00[ASN][1000 genomes]
rs17194789	1.00[ASN][1000 genomes]
rs17194852	1.00[ASN][1000 genomes]
rs17194859	1.00[ASN][1000 genomes]
rs2844770	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844771	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844773	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094070	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3094071	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3094072	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3094073	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3094074	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3094077	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3094629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094630	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3094632	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129697	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129699	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129700	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129701	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129702	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129703	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129705	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129706	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3129707	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3129708	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3129831	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3129832	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3129835	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3129836	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129837	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129840	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130398	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3130400	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3130401	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3130403	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3130404	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3130405	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3132650	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3132655	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3132656	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3132657	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3132658	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3132659	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9261629	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9261630	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9261636	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3094076	HLA-C	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30225200-30226600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:30225200-30226800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:30225800-30227000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr6:30226000-30226400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr6:30226000-30226800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:30226000-30226800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:30226000-30226800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:30226000-30226800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:30226000-30226800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr6:30226000-30226800	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:30226000-30226800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:30226000-30226800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:30226000-30226800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:30226000-30226800	Enhancers	GM12878-XiMat	blood
15	chr6:30226000-30226800	Bivalent Enhancer	HepG2	liver
16	chr6:30226000-30227000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:30226000-30227000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:30226000-30227000	Enhancers	Pancreas	Pancrea
19	chr6:30226000-30227200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:30226000-30227200	Enhancers	Small Intestine	intestine
21	chr6:30226200-30226600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:30226200-30226800	Weak transcription	Esophagus	oesophagus
23	chr6:30226200-30227000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:30226200-30227000	Weak transcription	Spleen	Spleen

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