Variant report

Variant	rs13428357
Chromosome Location	chr2:64337165-64337166
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64331549..64334048-chr2:64335542..64337218,2	K562	blood:
2	chr2:64326849..64329065-chr2:64336358..64339007,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10165165	0.81[ASN][1000 genomes]
rs10169847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170224	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175483	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183513	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10191854	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192104	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10192378	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10201191	0.80[AMR][1000 genomes]
rs10204631	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13385515	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13408188	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412068	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418461	0.81[ASN][1000 genomes]
rs13419918	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757314	0.81[ASN][1000 genomes]
rs28798530	0.81[ASN][1000 genomes]
rs3731962	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028117	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56301411	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60338887	0.93[ASN][1000 genomes]
rs60882934	1.00[ASN][1000 genomes]
rs7579828	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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 miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64320400-64339200	Weak transcription	NHLF	lung
3	chr2:64323400-64341400	Weak transcription	Aorta	Aorta
4	chr2:64323600-64341800	Weak transcription	Right Ventricle	heart
5	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
6	chr2:64323800-64341000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:64323800-64341600	Weak transcription	Gastric	stomach
8	chr2:64323800-64341600	Weak transcription	K562	blood
9	chr2:64324000-64341200	Weak transcription	HSMM	muscle
10	chr2:64324000-64341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:64324400-64338200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:64324400-64341600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:64324400-64344800	Weak transcription	HSMMtube	muscle
14	chr2:64325000-64341600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:64329000-64338800	Weak transcription	Fetal Lung	lung
16	chr2:64329000-64342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:64329200-64341000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:64329800-64340200	Genic enhancers	GM12878-XiMat	blood
19	chr2:64332200-64340600	Weak transcription	NH-A	brain
20	chr2:64332600-64341000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:64332800-64338800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:64333400-64340800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:64333400-64341600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:64333600-64338800	Weak transcription	NHDF-Ad	bronchial
25	chr2:64333600-64343200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:64333800-64340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:64333800-64341400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:64334000-64338400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:64334000-64349200	Weak transcription	Fetal Kidney	kidney
30	chr2:64334200-64343200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:64334400-64350200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:64334800-64339600	Weak transcription	HUVEC	blood vessel
33	chr2:64334800-64341400	Weak transcription	Primary B cells from cord blood	blood
34	chr2:64334800-64346600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:64335000-64343200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:64335200-64341600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:64335200-64348000	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:64335200-64348200	Weak transcription	Placenta	Placenta
40	chr2:64335400-64337200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:64335400-64337200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:64335400-64341600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:64335600-64341000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:64335600-64341600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:64335600-64341600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:64335600-64343400	Weak transcription	Brain Germinal Matrix	brain
47	chr2:64335800-64337200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:64336000-64337600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:64336000-64337600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:64336000-64338200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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