Variant report

Variant	rs8079418
Chromosome Location	chr17:17924060-17924061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17923562..17925540-chr17:17928310..17930799,2	K562	blood:
2	chr17:17917861..17921219-chr17:17923082..17926413,4	MCF-7	breast:
3	chr17:17922966..17925112-chr17:17926314..17928190,2	K562	blood:

Variant related genes	Relation type
ENSG00000171953	Chromatin interaction
ENSG00000171962	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11652894	0.88[ASN][1000 genomes]
rs12943914	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12948749	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1889014	0.83[EUR][1000 genomes]
rs2230316	0.82[AMR][1000 genomes]
rs2955360	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2955371	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2955382	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4321247	0.80[ASN][1000 genomes]
rs4925138	0.82[AMR][1000 genomes]
rs62072049	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6502629	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs712265	0.83[AMR][1000 genomes]
rs7224815	0.82[EUR][1000 genomes]
rs8077338	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs854762	0.82[AMR][1000 genomes]
rs854765	0.81[AMR][1000 genomes]
rs854766	0.82[AMR][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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8079418	DRG2	cis	Thyroid	GTEx
rs8079418	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:17906600-17929000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:17908400-17928400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:17908600-17932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:17910200-17926400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr17:17910400-17924400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr17:17910800-17925800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr17:17910800-17929200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:17911000-17930600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:17912000-17928800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:17912000-17930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17912400-17928400	Weak transcription	NHDF-Ad	bronchial
14	chr17:17913000-17924600	Weak transcription	NHLF	lung
15	chr17:17913000-17928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:17913000-17928200	Weak transcription	HMEC	breast
17	chr17:17913200-17928600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:17913400-17924400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:17915000-17929000	Weak transcription	A549	lung
20	chr17:17916400-17936600	Weak transcription	Fetal Kidney	kidney
21	chr17:17917400-17925600	Strong transcription	Fetal Intestine Large	intestine
22	chr17:17917400-17926000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:17917400-17928400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr17:17917400-17936600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:17917600-17926600	Strong transcription	Fetal Stomach	stomach
26	chr17:17917800-17929200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr17:17918000-17925200	Strong transcription	Placenta	Placenta
28	chr17:17918000-17925400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr17:17918000-17925600	Strong transcription	Primary T cells from cord blood	blood
30	chr17:17918000-17925800	Strong transcription	NHEK	skin
31	chr17:17918000-17928200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr17:17918000-17929400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:17918000-17932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:17918000-17932600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr17:17918600-17925400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:17918600-17925400	Strong transcription	Thymus	Thymus
37	chr17:17918600-17926600	Strong transcription	Fetal Intestine Small	intestine
38	chr17:17918800-17924400	Weak transcription	Colon Smooth Muscle	Colon
39	chr17:17919400-17924400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr17:17919400-17924600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr17:17919600-17924200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr17:17919600-17925600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr17:17920600-17924400	Enhancers	Left Ventricle	heart
44	chr17:17920600-17931800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr17:17920600-17932600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr17:17920800-17925400	Strong transcription	Dnd41	blood
47	chr17:17920800-17925800	Strong transcription	Lung	lung
48	chr17:17920800-17926000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr17:17921000-17924400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr17:17921000-17924600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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