Variant report

Variant	rs7146682
Chromosome Location	chr14:35625608-35625609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35624804..35627276-chr14:35631634..35634106,2	K562	blood:
2	chr14:35622588..35627460-chr14:35872526..35876521,6	MCF-7	breast:
3	chr14:35625181..35627591-chr14:35627623..35631343,4	MCF-7	breast:
4	chr14:35625114..35628050-chr14:35869275..35871381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000259090	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1056879	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11156875	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11851907	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17103005	0.86[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs17103034	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1807161	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1961195	0.88[ASN][1000 genomes]
rs2010648	0.82[ASN][1000 genomes]
rs2179890	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap]
rs2236167	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28397987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399702	0.83[ASN][1000 genomes]
rs28765972	0.93[ASN][1000 genomes]
rs2899830	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55977244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56027918	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57473972	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142489	0.80[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap]
rs7153660	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158416	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158634	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7159324	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs72664807	0.87[ASN][1000 genomes]
rs8005406	0.82[ASN][1000 genomes]
rs8006884	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014091	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8019351	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671773	0.86[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7146682	C14orf10	cis	multi-tissue	Pritchard
rs7146682	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL
rs7146682	PPP2R3C	cis	lymphoblastoid	seeQTL
rs7146682	PPP2R3C	cis	Whole Blood	GTEx
rs7146682	PPP2R3C	cis	multi-tissue	Pritchard

Chromatin state (count:110 , 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	chr14:35593200-35627800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:35593200-35635400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:35594400-35629000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
7	chr14:35604200-35628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:35604200-35651400	Weak transcription	Esophagus	oesophagus
9	chr14:35604400-35642000	Weak transcription	Lung	lung
10	chr14:35604400-35651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:35604400-35660200	Weak transcription	Aorta	Aorta
12	chr14:35604600-35626000	Weak transcription	Placenta	Placenta
13	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
14	chr14:35605600-35628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:35607400-35628200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:35607400-35642800	Weak transcription	Left Ventricle	heart
17	chr14:35607400-35662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:35607600-35661200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:35612000-35659800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:35612200-35628200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:35612200-35641800	Weak transcription	Fetal Stomach	stomach
22	chr14:35613600-35628000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:35613600-35628200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:35613600-35635800	Weak transcription	Brain Substantia Nigra	brain
25	chr14:35613800-35627800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:35614000-35629000	Weak transcription	K562	blood
27	chr14:35616600-35628000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:35617800-35627800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:35619400-35627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:35619400-35628200	Weak transcription	Fetal Intestine Small	intestine
31	chr14:35619800-35628200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:35620600-35626200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:35621000-35628200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:35622000-35629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:35622000-35645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:35622600-35626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:35622600-35626200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:35622600-35626800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:35622600-35628200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:35623000-35626200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:35623200-35626000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr14:35623200-35626000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:35623200-35626000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:35623200-35626200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:35624000-35625800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:35624400-35626000	Enhancers	NHEK	skin
47	chr14:35624600-35625800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:35624600-35626000	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:35624600-35626000	Enhancers	HMEC	breast
50	chr14:35624600-35626200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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