Variant report

Variant	rs7951953
Chromosome Location	chr11:18432650-18432651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:18432424-18432751	HepG2	liver:	n/a	chr11:18432591-18432602
2	CEBPB	chr11:18432415-18432760	IMR90	lung:	n/a	chr11:18432591-18432602
3	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
4	CEBPB	chr11:18432421-18432774	K562	blood:	n/a	chr11:18432591-18432602
5	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18428578..18433796-chr11:18433952..18441799,12	K562	blood:
2	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:
3	chr11:18430992..18433594-chr11:18671547..18674322,2	K562	blood:
4	chr11:18416054..18417892-chr11:18432317..18434579,2	K562	blood:
5	chr11:18415873..18420206-chr11:18430045..18435036,6	MCF-7	breast:
6	chr11:18432193..18433875-chr11:18547475..18550164,2	MCF-7	breast:
7	chr11:18423297..18429050-chr11:18429237..18433863,11	K562	blood:
8	chr11:18430626..18432747-chr11:18545645..18547445,2	K562	blood:
9	chr11:18431687..18432680-chr11:18672387..18673158,3	K562	blood:

No data

Variant related genes	Relation type
LDHC	TF binding region
ENSG00000134333	Chromatin interaction
ENSG00000256006	Chromatin interaction
ENSG00000166796	Chromatin interaction
ENSG00000074319	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10741744	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10766475	0.99[ASN][1000 genomes]
rs10766478	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10832927	0.91[ASN][1000 genomes]
rs10832929	0.90[ASN][1000 genomes]
rs10832930	0.99[ASN][1000 genomes]
rs10832931	0.99[ASN][1000 genomes]
rs10832932	0.99[ASN][1000 genomes]
rs10832933	0.95[ASN][1000 genomes]
rs1830426	0.96[ASN][1000 genomes]
rs1881716	0.98[ASN][1000 genomes]
rs1969562	0.96[ASN][1000 genomes]
rs1969563	0.96[ASN][1000 genomes]
rs2249631	0.96[ASN][1000 genomes]
rs2403279	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3758680	0.99[ASN][1000 genomes]
rs3758682	0.98[ASN][1000 genomes]
rs3781641	0.99[ASN][1000 genomes]
rs3809096	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3809097	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4274186	0.96[ASN][1000 genomes]
rs4820	0.81[ASN][1000 genomes]
rs5030621	0.99[ASN][1000 genomes]
rs6486421	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486425	0.99[ASN][1000 genomes]
rs7101840	0.85[ASN][1000 genomes]
rs7106099	0.91[ASN][1000 genomes]
rs7111748	0.96[ASN][1000 genomes]
rs7112492	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7117399	0.90[ASN][1000 genomes]
rs7120485	0.96[ASN][1000 genomes]
rs7121244	0.96[ASN][1000 genomes]
rs7128549	0.96[ASN][1000 genomes]
rs7130990	0.96[ASN][1000 genomes]
rs7947664	0.99[ASN][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7951953	LDHC	cis	Esophagus Muscularis	GTEx
rs7951953	LDHC	cis	Thyroid	GTEx
rs7951953	LDHC	cis	Muscle Skeletal	GTEx
rs7951953	LDHC	cis	Artery Tibial	GTEx
rs7951953	LDHC	cis	Nerve Tibial	GTEx
rs7951953	TSG101	Cis_1M	lymphoblastoid	RTeQTL
rs7951953	LDHC	cis	lung	GTEx
rs7951953	LDHC	cis	Adipose Subcutaneous	GTEx
rs7951953	LDHC	cis	Whole Blood	GTEx
rs7951953	LDHC	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:18422000-18433800	Weak transcription	Stomach Mucosa	stomach
4	chr11:18422200-18433800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:18422600-18433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:18426400-18433800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:18427200-18433800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:18427200-18433800	Weak transcription	Fetal Heart	heart
9	chr11:18427200-18433800	Weak transcription	Small Intestine	intestine
10	chr11:18427400-18433400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:18428000-18433600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:18428000-18433800	Weak transcription	Colonic Mucosa	Colon
13	chr11:18428000-18433800	Weak transcription	Gastric	stomach
14	chr11:18428200-18433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:18429000-18433600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:18429200-18433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:18429200-18433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:18429200-18433800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:18429600-18434200	Weak transcription	HepG2	liver
20	chr11:18429800-18433400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:18429800-18433400	Weak transcription	Fetal Kidney	kidney
22	chr11:18430000-18433800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:18430200-18433600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:18430200-18433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:18430200-18433600	Weak transcription	Brain Germinal Matrix	brain
26	chr11:18430200-18433600	Weak transcription	HUVEC	blood vessel
27	chr11:18430200-18433800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:18430200-18433800	Weak transcription	Brain Substantia Nigra	brain
29	chr11:18430200-18433800	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:18430200-18433800	Weak transcription	HSMMtube	muscle
31	chr11:18430200-18440200	Weak transcription	K562	blood
32	chr11:18430400-18433000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:18430400-18433400	Weak transcription	Placenta	Placenta
34	chr11:18430400-18433400	Weak transcription	Ovary	ovary
35	chr11:18430400-18433400	Weak transcription	HMEC	breast
36	chr11:18430400-18433600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:18430400-18433600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:18430400-18433600	Weak transcription	Primary B cells from cord blood	blood
39	chr11:18430400-18433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:18430400-18433600	Weak transcription	Aorta	Aorta
41	chr11:18430400-18433600	Weak transcription	Fetal Lung	lung
42	chr11:18430400-18433600	Weak transcription	Psoas Muscle	Psoas
43	chr11:18430400-18433800	Weak transcription	Brain Angular Gyrus	brain
44	chr11:18430400-18433800	Weak transcription	Pancreas	Pancrea
45	chr11:18430400-18433800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:18430400-18433800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:18430400-18433800	Weak transcription	NH-A	brain
48	chr11:18430400-18434200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:18430600-18433400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:18430600-18433400	Weak transcription	Fetal Muscle Trunk	muscle

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