Variant report

Variant	rs153941
Chromosome Location	chr12:21767941-21767942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21767841..21770071-chr12:21808194..21810495,2	K562	blood:

Variant related genes	Relation type
ENSG00000111716	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10770848	0.81[CHB][hapmap]
rs10841858	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10841872	0.88[CHB][hapmap]
rs11046157	0.81[CHB][hapmap]
rs11046159	0.81[CHB][hapmap]
rs12426105	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12824788	0.90[CHB][hapmap]
rs1478290	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1650307	0.90[CHB][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs1677084	0.83[AFR][1000 genomes]
rs1677091	0.81[CHB][hapmap];0.83[YRI][hapmap]
rs1677137	0.82[AFR][1000 genomes]
rs192210	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1981948	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs255447	0.83[AFR][1000 genomes]
rs4762855	0.83[AFR][1000 genomes]
rs7133519	0.81[CHB][hapmap]
rs7135965	0.90[CHB][hapmap]
rs7301883	0.81[CHB][hapmap]
rs7316669	0.81[CHB][hapmap]
rs7953579	0.91[CHB][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs7954338	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv898897	chr12:21680363-21781141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1037727	chr12:21689358-21772274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898898	chr12:21713402-21781141	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1051012	chr12:21730236-21781141	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs153941	LDHB	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21758000-21769000	Weak transcription	Pancreas	Pancrea
2	chr12:21765400-21770600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:21765400-21771800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:21765600-21769200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr12:21765600-21770400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:21766200-21769400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:21766600-21768400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:21766800-21768000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:21766800-21768600	Enhancers	Liver	Liver
10	chr12:21766800-21768800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:21766800-21769000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:21766800-21769200	Enhancers	Dnd41	blood
13	chr12:21766800-21769400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:21766800-21770000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:21767000-21768800	Enhancers	Adipose Nuclei	Adipose
16	chr12:21767200-21768400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:21767200-21769200	Enhancers	HUVEC	blood vessel
18	chr12:21767200-21769400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:21767200-21785800	Weak transcription	A549	lung
20	chr12:21767400-21768000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:21767400-21768400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:21767400-21768400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:21767400-21768400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:21767400-21768600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:21767400-21768600	Enhancers	Fetal Thymus	thymus
26	chr12:21767400-21768800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:21767800-21768600	Enhancers	Brain Anterior Caudate	brain
28	chr12:21767800-21768800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:21767800-21769400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:21767800-21771800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:21767800-21772000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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