Variant report

Variant	rs11751943
Chromosome Location	chr6:33729718-33729719
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33729702..33730489-chr6:33784415..33785270,3	MCF-7	breast:
2	chr6:33674794..33680843-chr6:33726905..33731016,6	MCF-7	breast:
3	chr6:33684529..33686540-chr6:33729478..33731636,2	MCF-7	breast:
4	chr6:33727358..33730164-chr6:33732846..33736236,4	K562	blood:
5	chr6:33682318..33683476-chr6:33729673..33730365,3	MCF-7	breast:
6	chr6:33711824..33712826-chr6:33729422..33730557,4	K562	blood:
7	chr6:33728239..33730038-chr6:33992593..33994238,2	MCF-7	breast:
8	chr6:33728564..33732066-chr6:33733725..33737558,5	MCF-7	breast:
9	chr6:33681000..33683302-chr6:33729065..33730662,2	MCF-7	breast:
10	chr6:33727069..33729812-chr6:33754645..33756635,3	MCF-7	breast:
11	chr6:33679206..33680031-chr6:33729674..33730625,9	MCF-7	breast:
12	chr6:33724784..33727400-chr6:33728214..33730024,2	MCF-7	breast:
13	chr6:33557128..33558070-chr6:33729670..33730677,6	K562	blood:
14	chr6:33708694..33710403-chr6:33728367..33730684,2	MCF-7	breast:
15	chr6:33710878..33712572-chr6:33728483..33730415,2	K562	blood:
16	chr6:33717929..33721430-chr6:33728075..33731260,3	MCF-7	breast:
17	chr6:33729337..33731009-chr6:33738048..33739817,2	MCF-7	breast:
18	chr6:33684753..33687394-chr6:33728535..33731247,2	MCF-7	breast:
19	chr6:33711863..33712830-chr6:33729590..33730729,7	MCF-7	breast:
20	chr6:33721254..33721988-chr6:33729704..33730219,2	K562	blood:
21	chr6:33712090..33712713-chr6:33729680..33730317,2	MCF-7	breast:
22	chr6:33710780..33712378-chr6:33728766..33730415,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161904	Chromatin interaction
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10755683	0.80[EUR][1000 genomes]
rs10947436	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947446	0.82[AFR][1000 genomes]
rs1318691	0.87[EUR][1000 genomes]
rs1536500	0.94[EUR][1000 genomes]
rs1536501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547668	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1951930	0.81[AFR][1000 genomes]
rs1998949	0.93[EUR][1000 genomes]
rs2182658	0.87[EUR][1000 genomes]
rs2182659	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395401	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395446	0.86[EUR][1000 genomes]
rs2395447	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395448	0.87[EUR][1000 genomes]
rs4711350	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713676	0.86[EUR][1000 genomes]
rs4713687	0.83[AFR][1000 genomes]
rs4713688	0.83[AFR][1000 genomes]
rs487835	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4996878	0.91[EUR][1000 genomes]
rs4996879	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs530614	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs570749	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs602399	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs652049	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs680608	0.94[ASN][1000 genomes]
rs6921772	0.87[EUR][1000 genomes]
rs7449707	0.85[EUR][1000 genomes]
rs751727	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756138	0.87[EUR][1000 genomes]
rs756139	0.87[EUR][1000 genomes]
rs7739273	0.87[EUR][1000 genomes]
rs791904	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9380379	0.84[EUR][1000 genomes]
rs942496	0.83[AFR][1000 genomes]
rs943463	0.91[EUR][1000 genomes]
rs943464	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943465	0.89[EUR][1000 genomes]
rs943472	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943473	0.87[EUR][1000 genomes]
rs943476	0.87[EUR][1000 genomes]
rs9461905	0.94[EUR][1000 genomes]
rs9461907	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11751943	BAK1	cis	Skin Sun Exposed Lower leg	GTEx
rs11751943	RXRB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33715200-33737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33720200-33730600	Weak transcription	Spleen	Spleen
3	chr6:33723400-33729800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:33723400-33736600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:33724000-33730200	Enhancers	Stomach Mucosa	stomach
6	chr6:33725200-33729800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:33726000-33731000	Enhancers	Fetal Stomach	stomach
8	chr6:33726200-33731000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:33726200-33731400	Enhancers	Fetal Lung	lung
10	chr6:33726400-33738200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:33727000-33730800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:33728000-33730000	Weak transcription	Hela-S3	cervix
13	chr6:33728000-33730200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:33728000-33730800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:33728000-33731400	Enhancers	Fetal Muscle Leg	muscle
16	chr6:33728000-33732000	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:33728200-33730400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:33728600-33730000	Enhancers	Fetal Thymus	thymus
19	chr6:33728600-33730600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:33728800-33730000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:33728800-33730000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:33728800-33730000	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:33728800-33730800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:33728800-33731600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:33728800-33731600	Enhancers	Right Ventricle	heart
26	chr6:33729000-33729800	Enhancers	Psoas Muscle	Psoas
27	chr6:33729000-33730000	Enhancers	Left Ventricle	heart
28	chr6:33729000-33730000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr6:33729000-33730200	Enhancers	Colonic Mucosa	Colon
30	chr6:33729000-33730200	Genic enhancers	Right Atrium	heart
31	chr6:33729000-33730800	Enhancers	Fetal Intestine Small	intestine
32	chr6:33729000-33736200	Weak transcription	HSMM	muscle
33	chr6:33729200-33730000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:33729200-33730200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:33729200-33730200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:33729200-33730200	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:33729200-33730200	Enhancers	Pancreas	Pancrea
38	chr6:33729200-33732000	Enhancers	Placenta	Placenta
39	chr6:33729400-33729800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr6:33729400-33730200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:33729400-33730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:33729400-33730200	Enhancers	Esophagus	oesophagus
43	chr6:33729400-33730200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr6:33729400-33730800	Enhancers	Brain Substantia Nigra	brain
45	chr6:33729400-33730800	Enhancers	Fetal Intestine Large	intestine
46	chr6:33729600-33729800	Enhancers	HSMMtube	muscle
47	chr6:33729600-33730000	Flanking Active TSS	Liver	Liver
48	chr6:33729600-33730000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr6:33729600-33730000	Enhancers	Stomach Smooth Muscle	stomach
50	chr6:33729600-33730000	Enhancers	A549	lung

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