Variant report

Variant	rs2057337
Chromosome Location	chr14:35840241-35840242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35590118..35592539-chr14:35839205..35841309,2	MCF-7	breast:
2	chr14:35761479..35764618-chr14:35836402..35840323,3	MCF-7	breast:
3	chr14:35833474..35838463-chr14:35839143..35843538,8	K562	blood:
4	chr14:35821826..35833396-chr14:35833928..35840799,21	K562	blood:
5	chr14:35839386..35842775-chr14:35870921..35874153,4	K562	blood:
6	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000258860	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11156878	1.00[ASW][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs11624462	1.00[JPT][hapmap]
rs12891176	0.81[ASN][1000 genomes]
rs17458312	1.00[JPT][hapmap]
rs1963154	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1967739	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28530718	1.00[ASN][1000 genomes]
rs4391963	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4432181	1.00[ASW][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs4982263	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[MEX][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4982264	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs4982266	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs61988300	0.86[ASN][1000 genomes]
rs6571713	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs6571714	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs8013647	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[MEX][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8018657	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35835600-35840400	Enhancers	Primary B cells from cord blood	blood
3	chr14:35837000-35843400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:35837800-35843200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:35838400-35842800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:35838400-35843200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:35838400-35843600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:35838600-35840400	Enhancers	HMEC	breast
10	chr14:35838600-35843200	Weak transcription	Osteobl	bone
11	chr14:35838600-35843600	Weak transcription	NH-A	brain
12	chr14:35838600-35843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:35838800-35847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:35839000-35843400	Weak transcription	NHDF-Ad	bronchial
15	chr14:35839000-35843800	Weak transcription	Brain Anterior Caudate	brain
16	chr14:35839200-35841800	Weak transcription	Right Ventricle	heart
17	chr14:35839200-35843800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:35839600-35842200	Weak transcription	Thymus	Thymus
19	chr14:35839600-35843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:35839600-35843600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:35839600-35845000	Weak transcription	Spleen	Spleen
22	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:35839800-35841600	Weak transcription	Hela-S3	cervix
24	chr14:35839800-35843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:35839800-35843400	Weak transcription	HUVEC	blood vessel
26	chr14:35839800-35843400	Weak transcription	K562	blood
27	chr14:35840000-35841600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:35840000-35843800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:35840200-35840800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr14:35840200-35841800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:35840200-35845000	Weak transcription	Primary hematopoietic stem cells	blood

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