Variant report

Variant	rs2378901
Chromosome Location	chr17:59821173-59821174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59820303..59821882-chr17:59847368..59849790,2	MCF-7	breast:
2	chr17:59820537..59822965-chr17:59841123..59845300,4	MCF-7	breast:
3	chr14:93109383..93111980-chr17:59820435..59822180,2	MCF-7	breast:
4	chr17:59782208..59785864-chr17:59818424..59822592,3	MCF-7	breast:
5	chr17:59820984..59822535-chr3:130502753..130504253,2	MCF-7	breast:
6	chr17:59725096..59726815-chr17:59820501..59823054,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2024189	0.91[AFR][1000 genomes]
rs2109253	0.91[AFR][1000 genomes]
rs2159453	0.81[AFR][1000 genomes]
rs2378903	0.83[AFR][1000 genomes]
rs2378904	0.87[AFR][1000 genomes]
rs4968449	0.91[AFR][1000 genomes]
rs7208535	0.91[AFR][1000 genomes]
rs7215102	0.87[AFR][1000 genomes]
rs7223095	0.83[AFR][1000 genomes]
rs7342819	0.85[AFR][1000 genomes]
rs9652859	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
3	nsv908674	chr17:59800827-59899790	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	esv3335472	chr17:59803168-59821322	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv575841	chr17:59812748-59914681	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
6	nsv575842	chr17:59812748-59927307	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59781600-59835400	Weak transcription	Hela-S3	cervix
2	chr17:59793600-59821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
4	chr17:59804200-59847400	Weak transcription	K562	blood
5	chr17:59804600-59834200	Weak transcription	Osteobl	bone
6	chr17:59806200-59825600	Weak transcription	Thymus	Thymus
7	chr17:59807600-59838400	Weak transcription	Fetal Stomach	stomach
8	chr17:59811600-59825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:59813800-59823000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:59814000-59849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:59814600-59823000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:59815000-59824000	Weak transcription	Fetal Heart	heart
13	chr17:59815000-59839200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:59815600-59828200	Weak transcription	NHLF	lung
15	chr17:59815600-59836000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:59815600-59844200	Weak transcription	HMEC	breast
17	chr17:59815800-59834400	Weak transcription	HSMM	muscle
18	chr17:59815800-59843400	Weak transcription	NHEK	skin
19	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr17:59818200-59823400	Weak transcription	Primary T cells from cord blood	blood
21	chr17:59818400-59821800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:59819000-59842600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:59819400-59843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:59819400-59848200	Weak transcription	Primary B cells from cord blood	blood
25	chr17:59819600-59821400	Strong transcription	HepG2	liver
26	chr17:59819600-59823000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr17:59819800-59821200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:59819800-59822000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:59819800-59823800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:59820000-59822000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr17:59820000-59823600	Weak transcription	Liver	Liver
32	chr17:59820000-59823600	Strong transcription	Dnd41	blood
33	chr17:59820000-59824400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:59820000-59839200	Weak transcription	Fetal Muscle Leg	muscle
35	chr17:59820000-59841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:59820000-59841400	Weak transcription	Ovary	ovary
37	chr17:59820000-59846600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:59820200-59822000	Weak transcription	Fetal Lung	lung
39	chr17:59820200-59822800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:59820200-59823600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr17:59820200-59823800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr17:59820200-59825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:59820200-59825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:59820200-59825400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:59820400-59822000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:59820400-59822200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:59820400-59822200	Weak transcription	A549	lung
48	chr17:59820400-59822600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:59820400-59822600	Weak transcription	GM12878-XiMat	blood
50	chr17:59820400-59822800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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