Variant report

Variant	rs576475957
Chromosome Location	chr1:59141544-59141545
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:59139724..59142589-chr1:59157997..59159875,2	K562	blood:
2	chr1:59140685..59142827-chr1:59150748..59153079,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv820181	chr1:59141214-59142601	Strong transcription Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59116000-59151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59117800-59147600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:59118200-59163400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:59118600-59147400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:59119800-59147600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:59119800-59155000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:59119800-59162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:59119800-59163200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:59120000-59143000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:59120000-59153400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:59120200-59149400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:59121000-59161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:59121200-59141600	Strong transcription	Primary B cells from cord blood	blood
14	chr1:59121400-59145400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:59121400-59161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:59121600-59141600	Strong transcription	NH-A	brain
17	chr1:59121600-59142200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:59121600-59143000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:59121600-59143000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:59121600-59147400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:59121600-59148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:59121600-59150000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:59121600-59150000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:59121600-59150600	Strong transcription	Liver	Liver
25	chr1:59121600-59161200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:59121600-59161200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:59122200-59153400	Weak transcription	Esophagus	oesophagus
28	chr1:59122400-59153200	Weak transcription	Gastric	stomach
29	chr1:59122400-59153200	Weak transcription	Pancreas	Pancrea
30	chr1:59122400-59155200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:59122400-59159400	Weak transcription	Right Ventricle	heart
32	chr1:59122800-59141800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:59123400-59153800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:59123800-59161800	Strong transcription	Dnd41	blood
35	chr1:59124000-59156600	Weak transcription	Spleen	Spleen
36	chr1:59125000-59142800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:59125000-59162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:59125200-59141800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr1:59125200-59150000	Strong transcription	Fetal Thymus	thymus
40	chr1:59125600-59142000	Strong transcription	Fetal Lung	lung
41	chr1:59125600-59161200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:59126200-59153400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:59126800-59149800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:59128400-59142800	Strong transcription	HepG2	liver
45	chr1:59129200-59142200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr1:59129200-59142200	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:59129200-59142200	Strong transcription	Left Ventricle	heart
48	chr1:59129200-59161000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr1:59130200-59142800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:59130200-59150200	Weak transcription	Stomach Mucosa	stomach

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