Variant report

Variant	rs17809071
Chromosome Location	chr4:124522628-124522629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124521015..124523686-chr4:124532382..124534861,2	K562	blood:
2	chr4:124521275..124523709-chr4:124536062..124537682,2	K562	blood:
3	chr4:124513485..124516385-chr4:124520416..124522940,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1452732	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17752451	0.97[ASN][1000 genomes]
rs1993190	0.84[ASN][1000 genomes]
rs2014110	0.81[ASN][1000 genomes]
rs2553360	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553363	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553374	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553375	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553377	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553378	0.91[ASN][1000 genomes]
rs2589836	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2589865	0.97[ASN][1000 genomes]
rs2893051	0.92[ASN][1000 genomes]
rs4254791	0.80[ASN][1000 genomes]
rs4254792	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4286523	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4365740	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4377602	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4400004	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4596251	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4833280	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4833282	0.97[ASN][1000 genomes]
rs4833931	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534412	0.84[ASN][1000 genomes]
rs6534414	0.95[ASN][1000 genomes]
rs6813552	0.97[ASN][1000 genomes]
rs6838729	0.97[ASN][1000 genomes]
rs7694928	0.83[ASN][1000 genomes]
rs979998	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17809071	ADAD1	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124518200-124524600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:124518800-124523200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:124519400-124524200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:124519400-124525200	Enhancers	Fetal Intestine Large	intestine
5	chr4:124519600-124522800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:124519600-124525200	Enhancers	Fetal Intestine Small	intestine
7	chr4:124519800-124522800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:124520000-124522800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:124520000-124523200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:124520000-124523200	Enhancers	Stomach Mucosa	stomach
11	chr4:124520200-124522800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:124520200-124522800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:124520400-124523000	Enhancers	Brain Germinal Matrix	brain
14	chr4:124520600-124522800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:124520600-124523000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:124520800-124522800	Enhancers	Brain Substantia Nigra	brain
17	chr4:124520800-124522800	Enhancers	Fetal Kidney	kidney
18	chr4:124521600-124523000	Enhancers	HepG2	liver
19	chr4:124521600-124524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:124521600-124524000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:124521600-124524200	Weak transcription	Fetal Stomach	stomach
22	chr4:124521600-124524200	Weak transcription	Lung	lung
23	chr4:124521600-124524400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:124521600-124524400	Weak transcription	Pancreas	Pancrea
25	chr4:124521800-124523000	Enhancers	K562	blood
26	chr4:124521800-124523200	Enhancers	Dnd41	blood
27	chr4:124521800-124524200	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:124521800-124524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:124522000-124522800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:124522000-124522800	Weak transcription	Fetal Thymus	thymus
31	chr4:124522000-124523000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:124522000-124523200	Enhancers	Primary T cells from cord blood	blood
33	chr4:124522000-124523600	Weak transcription	Small Intestine	intestine
34	chr4:124522000-124524000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:124522000-124524000	Weak transcription	HMEC	breast
36	chr4:124522000-124524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:124522000-124528000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:124522000-124528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:124522200-124523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:124522200-124523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:124522200-124523800	Weak transcription	Hela-S3	cervix
42	chr4:124522200-124524600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:124522400-124522800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:124522400-124523000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:124522400-124524200	Weak transcription	Fetal Lung	lung
46	chr4:124522400-124527600	Weak transcription	NHDF-Ad	bronchial
47	chr4:124522600-124523200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:124522600-124524200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:124522600-124524200	Weak transcription	HUVEC	blood vessel
50	chr4:124522600-124525000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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