Variant report

Variant	rs560458160
Chromosome Location	chr1:179197712-179197713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179189295..179193775-chr1:179196197..179201101,5	K562	blood:
2	chr1:179188852..179191101-chr1:179195980..179198204,2	K562	blood:
3	chr1:179059594..179062253-chr1:179196494..179198412,2	MCF-7	breast:
4	chr1:179181952..179183733-chr1:179196308..179198150,2	K562	blood:
5	chr1:179187242..179191261-chr1:179196503..179201085,5	MCF-7	breast:
6	chr1:179194698..179198189-chr1:179199454..179203395,4	K562	blood:

Variant related genes	Relation type
ENSG00000225711	Chromatin interaction

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	esv3441716	chr1:179197554-179200302	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 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	chr1:179195000-179197800	Weak transcription	Placenta	Placenta
2	chr1:179197000-179197800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:179197200-179197800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:179197200-179198000	Enhancers	Spleen	Spleen
5	chr1:179197400-179197800	Enhancers	Fetal Heart	heart
6	chr1:179197400-179197800	Weak transcription	Ovary	ovary
7	chr1:179197400-179198000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:179197400-179198000	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr1:179197400-179198000	Flanking Active TSS	Fetal Brain Female	brain
10	chr1:179197400-179198000	Flanking Active TSS	Hela-S3	cervix
11	chr1:179197400-179198200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:179197400-179198200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:179197400-179198200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:179197400-179199000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:179197400-179199400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:179197600-179197800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:179197600-179197800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:179197600-179197800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:179197600-179197800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:179197600-179197800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:179197600-179197800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:179197600-179197800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:179197600-179197800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:179197600-179197800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:179197600-179197800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:179197600-179197800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:179197600-179197800	Enhancers	Esophagus	oesophagus
28	chr1:179197600-179197800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:179197600-179197800	Flanking Active TSS	Fetal Brain Male	brain
30	chr1:179197600-179197800	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr1:179197600-179197800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:179197600-179197800	Enhancers	Gastric	stomach
33	chr1:179197600-179197800	Enhancers	Left Ventricle	heart
34	chr1:179197600-179197800	Enhancers	Lung	lung
35	chr1:179197600-179197800	Flanking Active TSS	Pancreas	Pancrea
36	chr1:179197600-179197800	Flanking Active TSS	Psoas Muscle	Psoas
37	chr1:179197600-179197800	Flanking Active TSS	Thymus	Thymus
38	chr1:179197600-179197800	Flanking Active TSS	A549	lung
39	chr1:179197600-179197800	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr1:179197600-179198000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:179197600-179198000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:179197600-179198000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:179197600-179198000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:179197600-179198000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:179197600-179198000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:179197600-179198000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:179197600-179198000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:179197600-179198000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:179197600-179198000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:179197600-179198000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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