Variant report

Variant	rs4596920
Chromosome Location	chr1:160922751-160922752
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	chr1:160915728..160918562-chr1:160922253..160924481,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2297222	0.82[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4596920	SPTA1	cis	parietal	SCAN
rs4596920	ARHGEF11	cis	cerebellum	SCAN
rs4596920	FDPS	cis	cerebellum	SCAN
rs4596920	FCRL1	cis	cerebellum	SCAN
rs4596920	ISG20L2	cis	cerebellum	SCAN
rs4596920	ISG20L2	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160916800-160923800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:160918000-160923800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:160918200-160923800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:160919000-160924000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:160919000-160924400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:160919400-160923000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:160919600-160924200	Enhancers	HMEC	breast
8	chr1:160919800-160923200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:160919800-160924000	Weak transcription	Fetal Heart	heart
10	chr1:160920000-160923600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:160920200-160924200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:160920600-160922800	Weak transcription	Right Ventricle	heart
13	chr1:160921400-160923000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:160921400-160923800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:160921600-160922800	Weak transcription	Pancreas	Pancrea
16	chr1:160921600-160923800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:160921600-160923800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:160921600-160923800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:160921600-160923800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:160921600-160923800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:160921600-160923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:160921600-160923800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:160921600-160924000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:160921600-160924000	Weak transcription	Lung	lung
25	chr1:160921600-160926600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:160921800-160922800	Weak transcription	Right Atrium	heart
27	chr1:160921800-160923800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:160921800-160923800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:160921800-160923800	Weak transcription	Esophagus	oesophagus
30	chr1:160921800-160923800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:160921800-160923800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:160921800-160923800	Weak transcription	Ovary	ovary
33	chr1:160921800-160924000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:160921800-160924000	Weak transcription	A549	lung
35	chr1:160922000-160923800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:160922000-160924200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:160922400-160923200	Enhancers	NHEK	skin
38	chr1:160922400-160923800	Weak transcription	Fetal Thymus	thymus
39	chr1:160922600-160923200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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