Variant report

Variant	rs8015470
Chromosome Location	chr14:35635209-35635210
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	chr14:35628255..35632944-chr14:35633604..35637748,5	MCF-7	breast:
2	chr14:35634398..35636898-chr14:35641045..35642555,2	K562	blood:

Variant related genes	Relation type
ENSG00000259090	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10130047	0.98[ASN][1000 genomes]
rs10136614	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137674	0.96[ASN][1000 genomes]
rs10137757	0.98[ASN][1000 genomes]
rs10143314	0.98[ASN][1000 genomes]
rs10143690	0.98[ASN][1000 genomes]
rs10146115	0.98[ASN][1000 genomes]
rs10146445	0.98[ASN][1000 genomes]
rs10149918	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415263	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415264	0.98[ASN][1000 genomes]
rs2415265	0.98[ASN][1000 genomes]
rs2415267	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2415268	0.98[ASN][1000 genomes]
rs2415274	0.98[ASN][1000 genomes]
rs28378259	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28452109	0.98[ASN][1000 genomes]
rs28723612	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28750252	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4488360	0.98[ASN][1000 genomes]
rs4981270	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58764649	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571696	0.97[ASN][1000 genomes]
rs6571700	0.84[ASN][1000 genomes]
rs6571702	0.98[ASN][1000 genomes]
rs7141699	0.97[ASN][1000 genomes]
rs7142230	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7157780	0.86[ASN][1000 genomes]
rs72664862	0.98[ASN][1000 genomes]
rs72664863	0.98[ASN][1000 genomes]
rs7401469	0.91[ASN][1000 genomes]
rs8015350	0.98[ASN][1000 genomes]
rs8016860	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9671922	0.89[ASN][1000 genomes]
rs9919891	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	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
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers 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	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1050700	chr14:35548276-35639084	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	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
19	nsv1047992	chr14:35563220-35639084	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	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
21	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
22	nsv1053978	chr14:35571762-35639084	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv1040300	chr14:35602956-35643888	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1046680	chr14:35608347-35665374	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8015470	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35593000-35638200	Weak transcription	Fetal Brain Male	brain
2	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:35593200-35635400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
5	chr14:35604200-35651400	Weak transcription	Esophagus	oesophagus
6	chr14:35604400-35642000	Weak transcription	Lung	lung
7	chr14:35604400-35651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:35604400-35660200	Weak transcription	Aorta	Aorta
9	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
10	chr14:35607400-35642800	Weak transcription	Left Ventricle	heart
11	chr14:35607400-35662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:35607600-35661200	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:35612000-35659800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:35612200-35641800	Weak transcription	Fetal Stomach	stomach
15	chr14:35613600-35635800	Weak transcription	Brain Substantia Nigra	brain
16	chr14:35622000-35645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:35625000-35645200	Weak transcription	Gastric	stomach
18	chr14:35625400-35644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:35625600-35637800	Weak transcription	Brain Anterior Caudate	brain
20	chr14:35625600-35643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:35625600-35644600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:35625600-35645200	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:35625600-35650000	Weak transcription	Psoas Muscle	Psoas
24	chr14:35625600-35662200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:35625600-35662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:35625800-35643000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:35626000-35636600	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:35626200-35650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:35626400-35651200	Weak transcription	Ovary	ovary
30	chr14:35626400-35658000	Weak transcription	Fetal Brain Female	brain
31	chr14:35627000-35645400	Weak transcription	HSMMtube	muscle
32	chr14:35627400-35638400	Weak transcription	Fetal Heart	heart
33	chr14:35628600-35635800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:35628600-35670200	Weak transcription	Thymus	Thymus
35	chr14:35628600-35672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:35628800-35636600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:35628800-35638600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:35628800-35638800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:35629000-35660600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:35629200-35638800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:35629200-35643200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:35629400-35636000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr14:35629400-35636000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:35629400-35636000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:35629400-35636400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:35629400-35638600	Weak transcription	Fetal Thymus	thymus
47	chr14:35629600-35636000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:35629600-35636000	Weak transcription	Adipose Nuclei	Adipose
49	chr14:35629600-35636000	Weak transcription	Fetal Intestine Large	intestine
50	chr14:35629600-35638600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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