Variant report

Variant	rs2013724
Chromosome Location	chr14:35856348-35856349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35853811..35865065-chr14:35868487..35875838,31	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11622212	0.81[ASN][1000 genomes]
rs17091835	1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs17103226	0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2057338	0.89[EUR][1000 genomes]
rs4272943	0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1047010	chr14:35853661-35887823	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv542037	chr14:35853661-35887823	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	nsv977456	chr14:35855022-35858707	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2013724	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35852600-35856400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:35852800-35856400	Enhancers	Fetal Heart	heart
3	chr14:35852800-35856600	Enhancers	NHDF-Ad	bronchial
4	chr14:35852800-35857200	Enhancers	Ovary	ovary
5	chr14:35852800-35857600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:35853200-35856400	Enhancers	Brain Substantia Nigra	brain
7	chr14:35853400-35856600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:35853600-35856400	Enhancers	NHEK	skin
9	chr14:35853600-35856600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:35853600-35856600	Enhancers	Fetal Lung	lung
11	chr14:35854400-35856400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:35854800-35856600	Enhancers	Rectal Smooth Muscle	rectum
13	chr14:35854800-35859600	Weak transcription	Esophagus	oesophagus
14	chr14:35855000-35859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:35855200-35856400	Enhancers	Colon Smooth Muscle	Colon
16	chr14:35855200-35856400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:35855200-35856600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:35855200-35857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:35855200-35857400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:35855200-35858200	Weak transcription	Spleen	Spleen
21	chr14:35855200-35859800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:35855200-35859800	Weak transcription	Psoas Muscle	Psoas
23	chr14:35855200-35860000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:35855200-35860000	Weak transcription	Right Atrium	heart
25	chr14:35855200-35863000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:35855200-35865000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:35855200-35865200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:35855200-35866600	Weak transcription	Gastric	stomach
29	chr14:35855200-35866800	Weak transcription	Liver	Liver
30	chr14:35855400-35857600	Enhancers	HepG2	liver
31	chr14:35855400-35860400	Weak transcription	HUVEC	blood vessel
32	chr14:35855400-35866000	Weak transcription	Fetal Intestine Small	intestine
33	chr14:35855400-35866800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:35855400-35866800	Weak transcription	Fetal Thymus	thymus
35	chr14:35855400-35868400	Weak transcription	Brain Angular Gyrus	brain
36	chr14:35855600-35856600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:35855600-35859800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:35855600-35860000	Weak transcription	Lung	lung
39	chr14:35855600-35860200	Weak transcription	NH-A	brain
40	chr14:35855600-35860200	Weak transcription	NHLF	lung
41	chr14:35855600-35860400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:35855600-35863600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:35855600-35866800	Weak transcription	Brain Anterior Caudate	brain
44	chr14:35855600-35868200	Weak transcription	Left Ventricle	heart
45	chr14:35855600-35868600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:35855600-35870000	Weak transcription	Aorta	Aorta
47	chr14:35855800-35870800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:35856000-35856400	Active TSS	K562	blood
49	chr14:35856000-35859800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:35856000-35859800	Weak transcription	Hela-S3	cervix

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