Variant report

Variant	rs573682312
Chromosome Location	chr5:59970914-59970915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59969188..59971651-chr5:59973747..59976121,2	K562	blood:
2	chr5:59970171..59972111-chr5:59972117..59973629,2	K562	blood:
3	chr5:59968561..59971245-chr5:59997935..60000093,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:59954000-59980200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:59956800-59981800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:59957000-59977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:59962600-59977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:59962600-59980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:59962600-59980800	Weak transcription	Fetal Thymus	thymus
9	chr5:59962600-59981000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:59962600-59981600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
13	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:59962800-59974000	Weak transcription	Dnd41	blood
15	chr5:59962800-59976600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:59962800-59978600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:59962800-59978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:59964600-59974600	Enhancers	Fetal Intestine Large	intestine
19	chr5:59964800-59974200	Enhancers	Fetal Intestine Small	intestine
20	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:59967400-59981800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:59968000-59972400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:59968000-59978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:59968000-59981800	Weak transcription	Thymus	Thymus
25	chr5:59969400-59972600	Weak transcription	A549	lung
26	chr5:59969400-59972800	Weak transcription	Small Intestine	intestine
27	chr5:59969400-59973400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:59969400-59973400	Weak transcription	Hela-S3	cervix
29	chr5:59969400-59973600	Enhancers	HepG2	liver
30	chr5:59969400-59977000	Weak transcription	Pancreas	Pancrea
31	chr5:59969400-59981400	Weak transcription	GM12878-XiMat	blood
32	chr5:59969600-59971400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:59969600-59971600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr5:59969600-59973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:59969600-59977200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:59969600-59977200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:59969600-59984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
39	chr5:59969800-59973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:59969800-59973400	Weak transcription	Fetal Kidney	kidney
41	chr5:59970000-59971000	Enhancers	HSMMtube	muscle
42	chr5:59970000-59972600	Weak transcription	Fetal Brain Male	brain
43	chr5:59970000-59973400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:59970200-59971000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:59970200-59971000	Enhancers	Osteobl	bone
46	chr5:59970400-59971000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr5:59970400-59971000	Enhancers	NHLF	lung
48	chr5:59970400-59971200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:59970400-59971200	Genic enhancers	Placenta	Placenta
50	chr5:59970400-59973400	Weak transcription	Stomach Mucosa	stomach

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