Variant report

Variant	rs553387883
Chromosome Location	chr5:59969431-59969432
allele	C/T
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: 4 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:57 , 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	chr5:59967400-59969600	Enhancers	Liver	Liver
27	chr5:59967400-59970800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:59967400-59981800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:59967800-59969800	Enhancers	K562	blood
30	chr5:59968000-59970400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:59968000-59972400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:59968000-59978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:59968000-59981800	Weak transcription	Thymus	Thymus
34	chr5:59968400-59969800	Enhancers	Fetal Kidney	kidney
35	chr5:59968600-59969600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr5:59968600-59970000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:59968600-59970000	Enhancers	Fetal Brain Male	brain
38	chr5:59968800-59969600	Enhancers	Fetal Lung	lung
39	chr5:59968800-59969800	Enhancers	Fetal Brain Female	brain
40	chr5:59968800-59969800	Enhancers	Placenta	Placenta
41	chr5:59968800-59970600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:59969000-59969600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:59969000-59969600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:59969000-59969600	Enhancers	Colonic Mucosa	Colon
45	chr5:59969000-59969800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:59969000-59970200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:59969000-59970400	Enhancers	Duodenum Mucosa	Duodenum
48	chr5:59969200-59969600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:59969200-59969600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:59969400-59969800	Enhancers	HUES6 Cell Line	embryonic stem cell

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