Variant report

Variant	rs12943202
Chromosome Location	chr17:17994332-17994333
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17994177-17994452	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17991316..17992819-chr17:17993824..17995636,2	MCF-7	breast:
2	chr17:17984151..17987033-chr17:17992447..17995446,2	K562	blood:
3	chr17:17993597..17995633-chr17:18001324..18003310,2	K562	blood:
4	chr17:17989884..17994353-chr17:18008301..18011863,4	MCF-7	breast:
5	chr17:17989895..17993133-chr17:17993965..17998692,5	MCF-7	breast:

No data

Variant related genes	Relation type
DRG2	TF binding region
ENSG00000108591	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11652894	0.87[ASN][1000 genomes]
rs12943914	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948749	0.87[ASN][1000 genomes]
rs12952818	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230316	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955351	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955360	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955371	0.87[ASN][1000 genomes]
rs2955382	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4925138	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712265	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827413	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854762	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854764	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854765	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854766	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854813	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12943202	SREBF1	cis	Whole Blood	GTEx
rs12943202	DRG2	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17991800-17997000	Weak transcription	Aorta	Aorta
2	chr17:17991800-18009800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17992000-18000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:17992200-17997000	Weak transcription	Fetal Heart	heart
5	chr17:17992200-18000800	Weak transcription	Psoas Muscle	Psoas
6	chr17:17992200-18002400	Weak transcription	Fetal Brain Male	brain
7	chr17:17992200-18014000	Weak transcription	Right Atrium	heart
8	chr17:17992400-17994400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:17992400-17994400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:17992400-17994400	Weak transcription	Fetal Thymus	thymus
11	chr17:17992400-17994400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:17992400-17994600	Weak transcription	Thymus	Thymus
13	chr17:17992400-17994800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:17992400-17994800	Weak transcription	Liver	Liver
15	chr17:17992400-17995000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:17992400-17995000	Weak transcription	Brain Anterior Caudate	brain
17	chr17:17992400-17995200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:17992400-17995200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:17992400-17995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:17992400-17995200	Weak transcription	Fetal Intestine Large	intestine
21	chr17:17992400-17995200	Weak transcription	Ovary	ovary
22	chr17:17992400-17995200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr17:17992400-17995200	Weak transcription	HSMM	muscle
24	chr17:17992400-17995200	Weak transcription	NHEK	skin
25	chr17:17992400-17995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:17992400-17995400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:17992400-17995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:17992400-17995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:17992400-17995400	Weak transcription	Primary B cells from cord blood	blood
30	chr17:17992400-17995400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:17992400-17995400	Weak transcription	Esophagus	oesophagus
32	chr17:17992400-17995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:17992400-17996000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:17992400-17996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr17:17992400-17996200	Weak transcription	HSMMtube	muscle
36	chr17:17992400-17996200	Weak transcription	Osteobl	bone
37	chr17:17992400-17996400	Weak transcription	Brain Germinal Matrix	brain
38	chr17:17992400-17996800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:17992400-17996800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr17:17992400-17997000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr17:17992400-17997000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:17992400-17997000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:17992400-17997000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr17:17992400-17997000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr17:17992400-17997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:17992400-17997000	Weak transcription	Brain Angular Gyrus	brain
47	chr17:17992400-17997000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:17992400-17997000	Weak transcription	Fetal Lung	lung
49	chr17:17992400-17997000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr17:17992400-17997000	Weak transcription	Right Ventricle	heart

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