Variant report

Variant	rs180797552
Chromosome Location	chr5:59970129-59970130
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59969188..59971651-chr5:59973747..59976121,2	K562	blood:
2	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:56 , 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	chr5:59960000-59970600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:59962400-59970800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:59962600-59970200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:59962600-59977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:59962600-59980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:59962600-59980800	Weak transcription	Fetal Thymus	thymus
12	chr5:59962600-59981000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:59962600-59981600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
16	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:59962800-59974000	Weak transcription	Dnd41	blood
18	chr5:59962800-59976600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:59962800-59978600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:59962800-59978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:59964600-59974600	Enhancers	Fetal Intestine Large	intestine
22	chr5:59964800-59974200	Enhancers	Fetal Intestine Small	intestine
23	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:59966200-59970400	Enhancers	Stomach Mucosa	stomach
25	chr5:59967000-59970200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr5:59967400-59970800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:59967400-59981800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:59968000-59970400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:59968000-59972400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:59968000-59978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:59968000-59981800	Weak transcription	Thymus	Thymus
32	chr5:59968800-59970600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:59969000-59970200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:59969000-59970400	Enhancers	Duodenum Mucosa	Duodenum
35	chr5:59969400-59972600	Weak transcription	A549	lung
36	chr5:59969400-59972800	Weak transcription	Small Intestine	intestine
37	chr5:59969400-59973400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:59969400-59973400	Weak transcription	Hela-S3	cervix
39	chr5:59969400-59973600	Enhancers	HepG2	liver
40	chr5:59969400-59977000	Weak transcription	Pancreas	Pancrea
41	chr5:59969400-59981400	Weak transcription	GM12878-XiMat	blood
42	chr5:59969600-59970400	Enhancers	HSMM	muscle
43	chr5:59969600-59971400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:59969600-59971600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr5:59969600-59973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:59969600-59977200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:59969600-59977200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:59969600-59984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
50	chr5:59969800-59970200	Weak transcription	K562	blood

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