Variant report

Variant	rs1030408
Chromosome Location	chr2:64551986-64551987
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64364705..64366411-chr2:64549712..64552538,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10164841	1.00[JPT][hapmap]
rs10206155	1.00[JPT][hapmap]
rs1426704	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1534684	0.83[EUR][1000 genomes]
rs2555417	0.83[EUR][1000 genomes]
rs2555424	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555429	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555431	0.92[ASN][1000 genomes]
rs2555432	0.92[ASN][1000 genomes]
rs2555447	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555450	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555451	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555454	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2698540	0.92[ASN][1000 genomes]
rs4459720	1.00[JPT][hapmap]
rs6546066	0.86[ASN][1000 genomes]
rs7559505	1.00[JPT][hapmap]
rs7560580	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562531	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883021	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930019	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64540000-64554200	Weak transcription	Fetal Brain Female	brain
2	chr2:64540200-64554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:64540800-64554600	Weak transcription	Right Atrium	heart
4	chr2:64546000-64552000	Weak transcription	Thymus	Thymus
5	chr2:64549200-64555800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:64549400-64553400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:64549400-64555200	Weak transcription	Placenta	Placenta
8	chr2:64549600-64554400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:64549800-64555000	Weak transcription	Fetal Lung	lung
10	chr2:64550200-64553400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:64550400-64552600	Weak transcription	Fetal Thymus	thymus
12	chr2:64550400-64554400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:64550600-64553000	Enhancers	Primary T cells from cord blood	blood
14	chr2:64550600-64554600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:64550800-64552000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:64550800-64552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:64550800-64554400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:64551000-64552000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:64551000-64552000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:64551000-64552600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:64551000-64553000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:64551200-64554200	Weak transcription	Esophagus	oesophagus
23	chr2:64551600-64552600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:64551800-64554400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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