Variant report

Variant	rs1556519
Chromosome Location	chr1:160917902-160917903
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:
2	chr1:160916194..160918562-chr1:160922783..160924481,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11265536	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11801591	1.00[YRI][hapmap]
rs11802727	1.00[YRI][hapmap]
rs17384360	1.00[YRI][hapmap]
rs17388108	1.00[YRI][hapmap]
rs2073655	1.00[YRI][hapmap]
rs2073656	1.00[YRI][hapmap]
rs2274906	0.90[LWK][hapmap];0.81[MKK][hapmap]
rs2297220	1.00[YRI][hapmap]
rs3737787	1.00[YRI][hapmap]

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	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
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1556519	ISG20L2	cis	cerebellum	SCAN
rs1556519	SPTA1	cis	parietal	SCAN
rs1556519	LMNA	cis	parietal	SCAN
rs1556519	ISG20L2	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160905800-160919800	Weak transcription	Right Atrium	heart
2	chr1:160911800-160920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:160915400-160918200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:160915400-160918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:160915600-160918800	Weak transcription	Hela-S3	cervix
6	chr1:160915600-160919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:160915800-160918000	Enhancers	NHEK	skin
8	chr1:160916000-160919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:160916400-160920600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:160916600-160918000	Enhancers	Fetal Heart	heart
11	chr1:160916600-160918200	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:160916600-160918200	Enhancers	Fetal Intestine Small	intestine
13	chr1:160916600-160920400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:160916600-160921800	Enhancers	Fetal Intestine Large	intestine
15	chr1:160916800-160919600	Weak transcription	HMEC	breast
16	chr1:160916800-160923800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:160917000-160918600	Weak transcription	K562	blood
18	chr1:160917400-160918000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:160917400-160918000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:160917400-160918000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:160917400-160918400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:160917600-160918000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:160917600-160918200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:160917600-160919000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:160917600-160921800	Enhancers	A549	lung
26	chr1:160917800-160918000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:160917800-160918000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:160917800-160918000	Enhancers	Left Ventricle	heart
29	chr1:160917800-160918000	Enhancers	Right Ventricle	heart
30	chr1:160917800-160918200	Enhancers	Ovary	ovary
31	chr1:160917800-160918200	Bivalent Enhancer	HSMMtube	muscle
32	chr1:160917800-160918600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:160917800-160919200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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