Variant report

Variant	rs10832929
Chromosome Location	chr11:18423110-18423111
allele	C/T
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	chr11:18423030-18423424	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
3	POLR2A	chr11:18415312-18424472	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000256006	TF binding region
LDHA	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10741744	0.85[ASN][1000 genomes]
rs10766475	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832927	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10832930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832933	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1830426	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1881716	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1969562	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1969563	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2249631	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2403279	0.91[ASN][1000 genomes]
rs2721123	0.85[AMR][1000 genomes]
rs3758680	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3758682	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3781641	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809096	0.86[ASN][1000 genomes]
rs3809097	0.88[ASN][1000 genomes]
rs4274186	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820	0.84[AMR][1000 genomes]
rs5030621	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6486421	0.91[ASN][1000 genomes]
rs6486425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7101840	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7106099	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7111748	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7112492	0.86[ASN][1000 genomes]
rs7117399	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7120485	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7121244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7128549	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7130990	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7947664	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7951953	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10832929	LDHC	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18418200-18425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
6	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:18418600-18427800	Strong transcription	Liver	Liver
8	chr11:18418600-18428600	Strong transcription	Fetal Intestine Large	intestine
9	chr11:18418600-18429400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
14	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:18418600-18430600	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr11:18418600-18430600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:18418600-18430800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:18418600-18430800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:18418600-18430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:18418600-18430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:18418600-18430800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:18418600-18430800	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:18418600-18430800	Strong transcription	Fetal Stomach	stomach
26	chr11:18418600-18430800	Strong transcription	Fetal Thymus	thymus
27	chr11:18418600-18430800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:18418600-18430800	Strong transcription	Right Ventricle	heart
29	chr11:18418800-18427400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr11:18418800-18427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:18418800-18430400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:18418800-18430600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:18418800-18430600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:18418800-18430600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:18418800-18430600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:18418800-18430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:18418800-18430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:18418800-18430800	Strong transcription	Adipose Nuclei	Adipose
39	chr11:18418800-18430800	Strong transcription	Osteobl	bone
40	chr11:18418800-18431000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:18419000-18426800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:18419000-18428000	Strong transcription	Colonic Mucosa	Colon
43	chr11:18419000-18429200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:18419000-18430000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:18419000-18430400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:18419000-18430600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:18419000-18430800	Strong transcription	Brain Anterior Caudate	brain
48	chr11:18419000-18430800	Strong transcription	Fetal Intestine Small	intestine
49	chr11:18419000-18431400	Strong transcription	HSMM	muscle
50	chr11:18419200-18428400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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