Variant report

Variant	rs560915990
Chromosome Location	chr1:172539953-172539954
allele	-/AT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172499376..172501724-chr1:172539037..172541418,2	K562	blood:
2	chr1:172499376..172501667-chr1:172538683..172540537,2	K562	blood:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv872548	chr1:172518012-172551724	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3440967	chr1:172539754-172542702	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
3	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
4	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
5	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172521800-172540400	Strong transcription	Primary B cells from cord blood	blood
7	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:172524000-172540400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:172524400-172540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:172524800-172540400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:172525000-172540400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:172526200-172540400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:172527200-172540000	Weak transcription	Colonic Mucosa	Colon
15	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
16	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:172528400-172543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:172528400-172547800	Weak transcription	A549	lung
19	chr1:172529800-172540000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:172531800-172540400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:172532800-172540400	Strong transcription	Placenta	Placenta
22	chr1:172533000-172540400	Strong transcription	Adipose Nuclei	Adipose
23	chr1:172533200-172540000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:172533200-172540200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:172533400-172540200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:172533400-172540400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:172533600-172540000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:172533600-172540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:172533600-172540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:172534200-172540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:172534400-172540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:172534800-172558000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:172535200-172547800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:172535200-172558000	Weak transcription	HSMMtube	muscle
35	chr1:172535400-172540200	Weak transcription	Esophagus	oesophagus
36	chr1:172535400-172554200	Weak transcription	NHEK	skin
37	chr1:172535400-172558000	Weak transcription	Left Ventricle	heart
38	chr1:172535400-172558000	Weak transcription	Right Ventricle	heart
39	chr1:172535400-172558200	Weak transcription	Brain Substantia Nigra	brain
40	chr1:172535600-172540000	Weak transcription	Thymus	Thymus
41	chr1:172535600-172546400	Weak transcription	HepG2	liver
42	chr1:172535600-172558000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:172535600-172569200	Weak transcription	Gastric	stomach
44	chr1:172535800-172540000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:172535800-172542400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:172536000-172540000	Weak transcription	Fetal Intestine Small	intestine
47	chr1:172536000-172540000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:172536000-172540000	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:172536000-172540000	Weak transcription	Spleen	Spleen
50	chr1:172536000-172558000	Weak transcription	Fetal Stomach	stomach

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