Variant report

Variant	rs2006075
Chromosome Location	chr14:35812685-35812686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35760612..35764048-chr14:35809630..35812978,4	MCF-7	breast:
2	chr1:235242161..235244380-chr14:35810854..35813654,2	MCF-7	breast:
3	chr14:35757408..35763930-chr14:35809319..35813404,11	MCF-7	breast:
4	chr14:35681682..35685352-chr14:35808762..35812906,3	MCF-7	breast:
5	chr14:35700471..35702762-chr14:35811850..35814628,2	MCF-7	breast:
6	chr14:35804902..35807934-chr14:35810651..35813744,3	K562	blood:

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000265530	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10083375	0.88[ASN][1000 genomes]
rs10083387	0.88[ASN][1000 genomes]
rs10132397	0.88[ASN][1000 genomes]
rs10135277	0.88[ASN][1000 genomes]
rs10140133	0.86[ASN][1000 genomes]
rs10146008	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146017	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10162508	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10438062	0.83[ASN][1000 genomes]
rs12436216	0.93[ASN][1000 genomes]
rs1885151	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2006074	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28589517	0.88[ASN][1000 genomes]
rs2899835	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4981283	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981285	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4982255	0.83[ASN][1000 genomes]
rs4982258	0.88[ASN][1000 genomes]
rs4982259	0.88[ASN][1000 genomes]
rs4982260	0.88[ASN][1000 genomes]
rs4982261	0.88[ASN][1000 genomes]
rs4982262	0.88[ASN][1000 genomes]
rs55746125	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72666622	0.87[ASN][1000 genomes]
rs762010	0.97[ASN][1000 genomes]
rs8003074	0.88[ASN][1000 genomes]
rs9322947	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9322950	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2006075	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35800000-35815000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:35800600-35814400	Enhancers	Placenta	Placenta
3	chr14:35800800-35813800	Enhancers	Lung	lung
4	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:35806800-35816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:35807400-35816600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:35808000-35813800	Enhancers	Spleen	Spleen
9	chr14:35808200-35814400	Enhancers	Primary hematopoietic stem cells	blood
10	chr14:35809000-35813200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:35809000-35813800	Enhancers	Fetal Muscle Leg	muscle
12	chr14:35809400-35814400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:35810200-35813600	Enhancers	Fetal Intestine Small	intestine
14	chr14:35810600-35813600	Weak transcription	GM12878-XiMat	blood
15	chr14:35811000-35816200	Weak transcription	K562	blood
16	chr14:35811200-35815000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:35811200-35816200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:35811200-35816400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:35811400-35813200	Weak transcription	Primary B cells from cord blood	blood
20	chr14:35811400-35813400	Enhancers	Esophagus	oesophagus
21	chr14:35811400-35814400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:35811400-35816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:35811600-35813200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr14:35811600-35813600	Enhancers	Right Atrium	heart
25	chr14:35811600-35816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:35811600-35816600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:35811600-35816600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:35811600-35816600	Weak transcription	Brain Germinal Matrix	brain
29	chr14:35811600-35816800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:35811800-35812800	Enhancers	Colonic Mucosa	Colon
31	chr14:35811800-35813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:35811800-35813000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:35811800-35813200	Weak transcription	Gastric	stomach
34	chr14:35811800-35813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:35811800-35813400	Enhancers	Fetal Lung	lung
36	chr14:35811800-35813400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr14:35811800-35813600	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:35811800-35813600	Enhancers	Left Ventricle	heart
39	chr14:35811800-35814800	Enhancers	Liver	Liver
40	chr14:35811800-35816200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:35811800-35816200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:35811800-35816200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:35811800-35821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:35812000-35813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:35812000-35813000	Enhancers	Adipose Nuclei	Adipose
46	chr14:35812000-35813000	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:35812000-35813000	Weak transcription	Fetal Kidney	kidney
48	chr14:35812000-35813000	Weak transcription	Psoas Muscle	Psoas
49	chr14:35812000-35813000	Weak transcription	Thymus	Thymus
50	chr14:35812000-35813200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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