Variant report

Variant	rs13399744
Chromosome Location	chr2:64292763-64292764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64291575..64294023-chr2:64351680..64354001,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10171434	0.84[AFR][1000 genomes]
rs10195117	0.83[AMR][1000 genomes]
rs10198141	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13018603	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13395129	0.83[AMR][1000 genomes]
rs13401984	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13402208	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62138469	0.81[AMR][1000 genomes]
rs7560803	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64289400-64293000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:64289600-64293000	Enhancers	NHEK	skin
3	chr2:64290000-64292800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:64290000-64292800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:64290000-64293000	Enhancers	Fetal Thymus	thymus
6	chr2:64290000-64293200	Enhancers	Placenta	Placenta
7	chr2:64290200-64292800	Enhancers	Primary T cells from cord blood	blood
8	chr2:64290200-64292800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:64290200-64292800	Enhancers	K562	blood
10	chr2:64290200-64293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:64290200-64293000	Enhancers	HMEC	breast
12	chr2:64290600-64292800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:64290600-64293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:64290600-64294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:64290800-64293800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:64291000-64292800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:64291000-64293200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:64291000-64294800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:64291200-64292800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:64291200-64293000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:64291200-64294000	Weak transcription	Lung	lung
22	chr2:64291200-64294600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:64291400-64293400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:64291800-64292800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:64291800-64292800	Enhancers	HUVEC	blood vessel
26	chr2:64291800-64293000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:64291800-64293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:64291800-64293400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:64291800-64293400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:64291800-64293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:64291800-64294200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:64292000-64293000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:64292200-64293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:64292200-64294400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:64292400-64292800	Enhancers	Right Ventricle	heart
36	chr2:64292400-64293800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:64292400-64294600	Weak transcription	Thymus	Thymus
38	chr2:64292600-64292800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:64292600-64292800	Enhancers	Pancreas	Pancrea
40	chr2:64292600-64292800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:64292600-64292800	Enhancers	Small Intestine	intestine
42	chr2:64292600-64293000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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