Variant report

Variant	rs734008
Chromosome Location	chr14:35816921-35816922
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35808792..35810743-chr14:35815553..35817945,2	K562	blood:
2	chr14:35816577..35819351-chr14:35832841..35834841,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1073597	0.83[ASN][1000 genomes]
rs11156883	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs17103226	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs17103240	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs17103242	0.81[CEU][hapmap]

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	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs734008	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL
rs734008	PPP2R3C	cis	Whole Blood	GTEx
rs734008	PPP2R3C	cis	lymphoblastoid	seeQTL
rs734008	KIAA0391	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35811800-35821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:35812200-35818800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:35812200-35821000	Weak transcription	Fetal Heart	heart
5	chr14:35812600-35817200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:35813400-35820800	Weak transcription	Fetal Kidney	kidney
7	chr14:35813600-35820800	Weak transcription	Right Atrium	heart
8	chr14:35814000-35817000	Weak transcription	Primary B cells from cord blood	blood
9	chr14:35814200-35821200	Weak transcription	Primary T cells from cord blood	blood
10	chr14:35814200-35821600	Weak transcription	Colonic Mucosa	Colon
11	chr14:35815000-35820800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:35815200-35820800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:35816000-35817000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:35816000-35817200	Enhancers	Liver	Liver
15	chr14:35816000-35817400	Flanking Active TSS	HepG2	liver
16	chr14:35816000-35817600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:35816200-35817000	Enhancers	Adipose Nuclei	Adipose
18	chr14:35816200-35817000	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:35816200-35817000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:35816200-35817000	Enhancers	Fetal Muscle Trunk	muscle
21	chr14:35816200-35817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:35816200-35817200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:35816200-35817200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:35816200-35817200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:35816200-35817200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:35816200-35817200	Enhancers	Ovary	ovary
27	chr14:35816200-35817200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr14:35816200-35817400	Enhancers	K562	blood
29	chr14:35816200-35817800	Enhancers	Fetal Intestine Large	intestine
30	chr14:35816200-35818000	Enhancers	Fetal Intestine Small	intestine
31	chr14:35816200-35819400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:35816200-35821200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:35816400-35817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:35816400-35817000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:35816400-35817200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:35816400-35817400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:35816400-35817400	Enhancers	Placenta	Placenta
38	chr14:35816400-35817400	Enhancers	Fetal Stomach	stomach
39	chr14:35816600-35817000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr14:35816600-35817000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:35816600-35817000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:35816600-35817000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:35816600-35817000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:35816600-35817000	Enhancers	Brain Germinal Matrix	brain
45	chr14:35816600-35817000	Enhancers	Gastric	stomach
46	chr14:35816600-35817000	Enhancers	Pancreas	Pancrea
47	chr14:35816600-35817000	Enhancers	Spleen	Spleen
48	chr14:35816600-35817000	Flanking Active TSS	A549	lung
49	chr14:35816600-35817200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:35816600-35817200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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