Variant report

Variant	rs7938267
Chromosome Location	chr11:18432754-18432755
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	CEBPB	chr11:18432415-18432760	IMR90	lung:	n/a	chr11:18432591-18432602
2	CEBPB	chr11:18432421-18432774	K562	blood:	n/a	chr11:18432591-18432602

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:

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

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10766473	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10766476	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832926	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024636	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1830425	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403278	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403280	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2403298	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3758681	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3758683	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486422	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6486423	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6486424	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7129689	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7925445	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7938942	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7943847	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7946331	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7938267	LDHC	cis	Thyroid	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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