Variant report

Variant	rs7121244
Chromosome Location	chr11:18420805-18420806
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18420390-18422599	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:18420415-18422567	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:18420465-18420829	K562	blood:	n/a	n/a
4	HEY1	chr11:18419211-18422587	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:18420652-18420805	A549	lung:	n/a	n/a
6	POLR2A	chr11:18415356-18422999	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:18419260-18422165	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:18420423-18422134	HCT-116	colon:	n/a	n/a
9	POLR2A	chr11:18420447-18420881	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
11	POLR2A	chr11:18420627-18422568	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:18420432-18422020	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr11:18420312-18421941	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:18419895-18420908	K562	blood:	n/a	n/a
15	POLR2A	chr11:18420428-18420902	K562	blood:	n/a	n/a
16	POLR2A	chr11:18420517-18421744	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:18415312-18424472	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:18420588-18420860	HCT-116	colon:	n/a	n/a
19	POLR2A	chr11:18420649-18420833	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:18420249-18422882	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr11:18420637-18420901	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:18420457-18422625	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:18420370-18422609	U87	brain:	n/a	n/a
24	POLR2A	chr11:18420432-18420878	K562	blood:	n/a	n/a
25	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a
26	POLR2A	chr11:18420474-18422593	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:18420528-18422227	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:18420486-18421014	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:18415580-18422609	U87	brain:	n/a	n/a
30	POLR2A	chr11:18420367-18422648	HepG2	liver:	n/a	n/a
31	HEY1	chr11:18420484-18420859	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
LDHA	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10741744	0.91[ASN][1000 genomes]
rs10766473	0.86[JPT][hapmap]
rs10766475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10766478	0.82[ASN][1000 genomes]
rs10832927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832929	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832933	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024636	0.95[JPT][hapmap]
rs11024651	0.82[CHB][hapmap]
rs1830426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1881717	0.87[CHB][hapmap]
rs1969562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037868	0.82[CHB][hapmap]
rs2249631	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403278	0.95[JPT][hapmap]
rs2403279	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2658566	0.87[CHB][hapmap]
rs2721123	0.85[AMR][1000 genomes]
rs3758680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758681	0.95[JPT][hapmap]
rs3758682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758683	0.95[JPT][hapmap]
rs3781641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809096	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3809097	0.94[ASN][1000 genomes]
rs4274186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756940	0.83[CHB][hapmap]
rs4820	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5030621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486421	1.00[ASN][1000 genomes]
rs6486425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7101840	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7106099	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7117399	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7120485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129689	0.95[JPT][hapmap]
rs7130990	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947664	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7951953	0.96[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7121244	LDHC	cis	Thyroid	GTEx
rs7121244	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	chr11:18416800-18421000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:18418000-18422200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr11:18418200-18425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:18418400-18421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:18418400-18421800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:18418400-18422200	Strong transcription	Esophagus	oesophagus
8	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
11	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:18418600-18421200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:18418600-18422400	Strong transcription	Primary B cells from cord blood	blood
14	chr11:18418600-18422600	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr11:18418600-18422600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr11:18418600-18427800	Strong transcription	Liver	Liver
17	chr11:18418600-18428600	Strong transcription	Fetal Intestine Large	intestine
18	chr11:18418600-18429400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
23	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:18418600-18430600	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr11:18418600-18430600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:18418600-18430800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:18418600-18430800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:18418600-18430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:18418600-18430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:18418600-18430800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:18418600-18430800	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:18418600-18430800	Strong transcription	Fetal Stomach	stomach
35	chr11:18418600-18430800	Strong transcription	Fetal Thymus	thymus
36	chr11:18418600-18430800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr11:18418600-18430800	Strong transcription	Right Ventricle	heart
38	chr11:18418800-18422000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:18418800-18422600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:18418800-18422600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr11:18418800-18422800	Strong transcription	NH-A	brain
42	chr11:18418800-18427400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr11:18418800-18427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:18418800-18430400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:18418800-18430600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:18418800-18430600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:18418800-18430600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:18418800-18430600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:18418800-18430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:18418800-18430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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