Variant report

Variant	rs7560803
Chromosome Location	chr2:64281498-64281499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64275467..64277323-chr2:64280220..64283208,2	MCF-7	breast:
2	chr2:64280836..64282865-chr2:64492384..64494313,2	MCF-7	breast:
3	chr2:64279851..64282234-chr2:64282895..64285369,2	K562	blood:
4	chr2:64275419..64277085-chr2:64280616..64282779,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10171434	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198141	0.86[AFR][1000 genomes]
rs13399744	0.86[AFR][1000 genomes]
rs13429819	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17028360	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55666948	0.83[ASN][1000 genomes]
rs55704223	0.90[AFR][1000 genomes]
rs55728742	0.83[ASN][1000 genomes]
rs56183162	0.96[ASN][1000 genomes]
rs56227836	0.83[ASN][1000 genomes]
rs62138466	1.00[ASN][1000 genomes]
rs62138467	0.96[ASN][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64277400-64281600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:64277400-64282600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:64277400-64291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:64278600-64282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:64278600-64282600	Enhancers	Primary T cells from cord blood	blood
6	chr2:64278600-64285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:64278800-64282000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:64278800-64283400	Enhancers	Fetal Thymus	thymus
9	chr2:64279000-64282000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:64279000-64282600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:64279000-64282800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:64279000-64282800	Enhancers	Thymus	Thymus
13	chr2:64279400-64282200	Enhancers	Dnd41	blood
14	chr2:64279600-64285400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:64279800-64282000	Weak transcription	NHEK	skin
16	chr2:64279800-64282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:64279800-64282600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:64279800-64282600	Weak transcription	Placenta	Placenta
19	chr2:64280000-64283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:64280000-64283200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:64280000-64285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:64280000-64290600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:64280200-64281600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:64280200-64281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:64280200-64282000	Enhancers	HUVEC	blood vessel
26	chr2:64280600-64281600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:64280600-64282000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:64281000-64281600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:64281000-64281600	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:64281000-64282200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:64281200-64281600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:64281200-64281600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:64281200-64281800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:64281200-64282000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:64281200-64282200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:64281200-64283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:64281400-64281600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:64281400-64281600	Enhancers	Lung	lung
39	chr2:64281400-64284400	Enhancers	HMEC	breast

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