Variant report

Variant	rs12884331
Chromosome Location	chr14:35838676-35838677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35825704..35827505-chr14:35837776..35839385,2	MCF-7	breast:
2	chr14:35711794..35714036-chr14:35837683..35839377,2	MCF-7	breast:
3	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
4	chr14:35761479..35764618-chr14:35836402..35840323,3	MCF-7	breast:
5	chr14:35821826..35833396-chr14:35833928..35840799,21	K562	blood:
6	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000258860	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12884889	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892002	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34043514	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34582389	0.95[EUR][1000 genomes]
rs34717220	0.87[EUR][1000 genomes]
rs34758648	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35650337	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35998362	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36093300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57607234	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6571715	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71204284	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71404856	1.00[ASN][1000 genomes]
rs8007950	1.00[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35831600-35839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:35831600-35839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:35833400-35839200	Enhancers	Placenta	Placenta
5	chr14:35834200-35839400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:35834200-35839400	Enhancers	Stomach Smooth Muscle	stomach
7	chr14:35834200-35840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:35834200-35840200	Enhancers	Primary hematopoietic stem cells	blood
9	chr14:35834400-35839400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:35834400-35839600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:35834400-35839600	Enhancers	Fetal Muscle Leg	muscle
12	chr14:35834400-35839600	Enhancers	Thymus	Thymus
13	chr14:35834400-35839800	Enhancers	Adipose Nuclei	Adipose
14	chr14:35834400-35840200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:35834800-35839000	Enhancers	NHDF-Ad	bronchial
16	chr14:35835400-35838800	Enhancers	Hela-S3	cervix
17	chr14:35835600-35840400	Enhancers	Primary B cells from cord blood	blood
18	chr14:35835800-35839000	Weak transcription	HUVEC	blood vessel
19	chr14:35836200-35839000	Enhancers	A549	lung
20	chr14:35836200-35839600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:35837000-35843400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:35837400-35838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:35837400-35839800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:35837600-35838800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:35837600-35839000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:35837600-35839000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:35837600-35840000	Enhancers	Fetal Thymus	thymus
29	chr14:35837800-35838800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:35837800-35839200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:35837800-35839200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:35837800-35839200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:35837800-35839200	Weak transcription	GM12878-XiMat	blood
34	chr14:35837800-35839800	Enhancers	K562	blood
35	chr14:35837800-35840200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:35837800-35843200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:35838000-35838800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr14:35838000-35838800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:35838000-35839000	Weak transcription	Primary T cells from cord blood	blood
40	chr14:35838000-35839000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:35838000-35839000	Weak transcription	Left Ventricle	heart
42	chr14:35838000-35840200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:35838000-35840200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:35838200-35838800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:35838200-35838800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:35838200-35838800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:35838200-35839200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:35838200-35839400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:35838200-35839600	Enhancers	Spleen	Spleen
50	chr14:35838200-35840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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