Variant report

Variant	rs576310764
Chromosome Location	chr1:220176454-220176455
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	chr1:220150167..220154916-chr1:220176228..220180180,4	K562	blood:

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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
4	esv3348877	chr1:220176274-220176740	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
4	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
5	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:220157200-220177200	Weak transcription	Esophagus	oesophagus
7	chr1:220158200-220177200	Weak transcription	Right Ventricle	heart
8	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:220166000-220189200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:220166200-220178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:220166200-220178200	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:220166200-220184400	Strong transcription	Fetal Thymus	thymus
15	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:220166400-220199800	Strong transcription	K562	blood
20	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:220166600-220180800	Strong transcription	Placenta	Placenta
24	chr1:220166600-220185200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:220166600-220188400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:220166800-220199000	Strong transcription	Dnd41	blood
28	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:220167000-220181200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:220167400-220177000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:220167600-220185600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:220167800-220177200	Weak transcription	Aorta	Aorta
34	chr1:220167800-220177200	Weak transcription	Gastric	stomach
35	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
36	chr1:220168200-220185600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:220168400-220180600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:220168600-220179200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:220168800-220179600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:220168800-220179600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:220168800-220184400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:220169000-220184600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:220170400-220177400	Weak transcription	Brain Substantia Nigra	brain
46	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:220170600-220177200	Weak transcription	Psoas Muscle	Psoas
48	chr1:220170600-220177400	Weak transcription	NHLF	lung
49	chr1:220170600-220186600	Weak transcription	Fetal Heart	heart
50	chr1:220171200-220177000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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