Variant report

Variant	rs2104977
Chromosome Location	chr14:20838713-20838714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20837833..20839476-chr14:20938206..20940860,2	K562	blood:
2	chr14:20810147..20812907-chr14:20836126..20842394,9	MCF-7	breast:
3	chr14:20838530..20842338-chr14:20842548..20848826,6	K562	blood:

Variant related genes	Relation type
ENSG00000198805	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11627273	0.84[CEU][hapmap];0.83[AMR][1000 genomes]
rs2297616	1.00[YRI][hapmap]
rs2700	1.00[YRI][hapmap]
rs3093882	1.00[YRI][hapmap]
rs3093890	1.00[YRI][hapmap]
rs3093902	1.00[YRI][hapmap]
rs3093904	1.00[YRI][hapmap]
rs3093939	1.00[YRI][hapmap]
rs3093940	1.00[YRI][hapmap]
rs878157	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2104977	PARP2	cis	parietal	SCAN
rs2104977	PARP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:20824600-20840800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:20824800-20839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:20825200-20863200	Weak transcription	Fetal Heart	heart
8	chr14:20825800-20846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:20826200-20839000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:20826200-20841400	Weak transcription	K562	blood
11	chr14:20826400-20847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:20826600-20840800	Weak transcription	Fetal Brain Male	brain
13	chr14:20827800-20840400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:20828000-20842600	Strong transcription	Fetal Intestine Small	intestine
15	chr14:20829000-20855800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:20829200-20877000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:20829400-20843400	Strong transcription	Fetal Intestine Large	intestine
18	chr14:20829400-20855800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr14:20829400-20876800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:20829600-20876800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:20829800-20864800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:20829800-20877400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:20830400-20869000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:20830400-20876800	Strong transcription	Fetal Stomach	stomach
25	chr14:20830400-20877200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:20831000-20860800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:20831000-20860800	Strong transcription	Primary T cells from cord blood	blood
28	chr14:20831000-20868200	Strong transcription	Placenta	Placenta
29	chr14:20831200-20842400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:20831200-20844200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:20831200-20859200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:20831200-20867800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:20831400-20855800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:20831400-20877000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr14:20832000-20843600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:20832000-20873600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:20832200-20855000	Strong transcription	HSMM	muscle
38	chr14:20832200-20855800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:20832200-20876800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:20832400-20843800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:20832400-20844200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:20832400-20860200	Strong transcription	Lung	lung
43	chr14:20832400-20865400	Strong transcription	Primary B cells from cord blood	blood
44	chr14:20832600-20877000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:20833000-20860800	Strong transcription	Left Ventricle	heart
46	chr14:20833800-20842200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr14:20833800-20861400	Strong transcription	Osteobl	bone
48	chr14:20833800-20869200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:20834000-20844000	Strong transcription	Liver	Liver
50	chr14:20834000-20845600	Strong transcription	HUVEC	blood vessel

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