Variant report

Variant	rs2447947
Chromosome Location	chr11:75943540-75943541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75941641..75943721-chr11:76090147..76092778,2	MCF-7	breast:
2	chr11:75942806..75944926-chr11:75995392..75997134,2	K562	blood:

Variant related genes	Relation type
ENSG00000179240	Chromatin interaction
ENSG00000137492	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12416814	0.83[JPT][hapmap]
rs1357121	0.83[JPT][hapmap]
rs4387369	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4944093	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv897926	chr11:75862571-76004202	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1037670	chr11:75869435-75956348	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1035371	chr11:75869435-75964374	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1046769	chr11:75869737-75964374	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1040118	chr11:75870189-75995089	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1044894	chr11:75871240-75964374	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1053129	chr11:75871240-75997663	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv984475	chr11:75891800-75943874	Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2447947	POLD3	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75937000-75945000	Weak transcription	Right Atrium	heart
2	chr11:75937000-75945000	Weak transcription	Spleen	Spleen
3	chr11:75939800-75943600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:75939800-75944800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:75940000-75943800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:75940800-75944600	Weak transcription	Adipose Nuclei	Adipose
7	chr11:75940800-75945200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:75940800-75945600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:75941000-75944800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:75941200-75943800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:75941400-75944600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:75941600-75945400	Enhancers	GM12878-XiMat	blood
13	chr11:75941600-75945600	Enhancers	Fetal Thymus	thymus
14	chr11:75941800-75943800	Enhancers	Fetal Intestine Large	intestine
15	chr11:75941800-75944200	Enhancers	Fetal Intestine Small	intestine
16	chr11:75941800-75945600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:75942000-75944000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:75942000-75944600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr11:75942200-75944400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:75942200-75945400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:75942200-75945600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:75942600-75943600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:75942600-75943800	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:75942600-75943800	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:75942600-75944200	Enhancers	Thymus	Thymus
26	chr11:75942600-75945600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:75942800-75943600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr11:75942800-75943600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:75942800-75943600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:75942800-75943600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:75942800-75943600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:75942800-75943600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:75942800-75943600	Flanking Active TSS	HepG2	liver
34	chr11:75942800-75943800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:75942800-75944400	Enhancers	Hela-S3	cervix
36	chr11:75943000-75943600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:75943000-75943600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr11:75943000-75943600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:75943000-75943600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:75943000-75943800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:75943000-75944000	Enhancers	Primary B cells from cord blood	blood
42	chr11:75943200-75943600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr11:75943200-75943800	Enhancers	Small Intestine	intestine
44	chr11:75943200-75944400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:75943200-75945000	Weak transcription	Pancreas	Pancrea
46	chr11:75943200-75945600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:75943400-75943600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:75943400-75943600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:75943400-75943600	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:75943400-75943600	Enhancers	A549	lung

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