Variant report

Variant	rs13414845
Chromosome Location	chr2:39753483-39753484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39749162..39751923-chr2:39751985..39754949,2	MCF-7	breast:
2	chr2:39741137..39743112-chr2:39751728..39753579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10182967	1.00[EUR][1000 genomes]
rs10183115	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10185836	1.00[EUR][1000 genomes]
rs10194751	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10207329	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13398961	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410300	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13415549	1.00[EUR][1000 genomes]
rs13430261	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28667057	1.00[EUR][1000 genomes]
rs28885808	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6742173	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39748400-39753600	Enhancers	Psoas Muscle	Psoas
2	chr2:39749400-39757200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:39749400-39758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:39750600-39754400	Enhancers	HepG2	liver
7	chr2:39750800-39760200	Weak transcription	Gastric	stomach
8	chr2:39751200-39760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:39751400-39753600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:39751400-39760200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:39751600-39757200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:39751800-39757000	Weak transcription	HUVEC	blood vessel
13	chr2:39752000-39755000	Enhancers	GM12878-XiMat	blood
14	chr2:39752000-39755200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:39752000-39756600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:39752200-39755200	Enhancers	Primary B cells from cord blood	blood
17	chr2:39752400-39757600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:39752600-39753800	Weak transcription	Aorta	Aorta
19	chr2:39752600-39756600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:39752600-39756600	Weak transcription	NHDF-Ad	bronchial
21	chr2:39752600-39757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:39752600-39757000	Weak transcription	NHEK	skin
23	chr2:39752600-39757000	Weak transcription	Osteobl	bone
24	chr2:39752600-39757200	Weak transcription	Hela-S3	cervix
25	chr2:39752600-39757200	Weak transcription	NHLF	lung
26	chr2:39752600-39760400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:39752600-39760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:39752800-39757000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:39753000-39753800	Weak transcription	Ovary	ovary
30	chr2:39753000-39756800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:39753000-39757000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:39753000-39757000	Weak transcription	HSMM	muscle
33	chr2:39753000-39758000	Weak transcription	Placenta	Placenta
34	chr2:39753200-39754200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:39753200-39757000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:39753200-39760200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:39753400-39753800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:39753400-39755800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:39753400-39756000	Weak transcription	Left Ventricle	heart
40	chr2:39753400-39757200	Weak transcription	Fetal Heart	heart
41	chr2:39753400-39757400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:39753400-39757400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:39753400-39757600	Weak transcription	NH-A	brain
44	chr2:39753400-39758000	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:39753400-39761000	Weak transcription	HSMMtube	muscle
46	chr2:39753400-39768400	Weak transcription	Right Ventricle	heart
47	chr2:39753400-39768600	Weak transcription	Right Atrium	heart

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