Variant report

Variant	rs17161698
Chromosome Location	chr7:98969282-98969283
allele	A/G
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:7)
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	BHLHE40	chr7:98969193-98969306	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98964264..98966254-chr7:98968520..98970392,2	K562	blood:
2	chr7:98965968..98969529-chr7:98970611..98972525,4	K562	blood:
3	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
4	chr7:98968072..98969798-chr7:98970656..98972381,2	MCF-7	breast:
5	chr7:98475203..98477620-chr7:98967825..98969714,2	K562	blood:
6	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:
7	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000130429	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000196367	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000106245	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1002172	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1004387	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10155966	0.82[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10225314	0.84[EUR][1000 genomes]
rs10236149	0.86[ASN][1000 genomes]
rs10243678	0.85[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10249167	0.83[ASN][1000 genomes]
rs10255399	0.91[ASN][1000 genomes]
rs10258757	0.91[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs10270459	0.82[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs10270917	0.91[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10464604	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11539770	1.00[EUR][1000 genomes]
rs11762273	0.91[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs13240600	0.83[JPT][hapmap]
rs17161652	1.00[CEU][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17161677	1.00[CEU][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161692	0.84[GIH][hapmap]
rs17161766	0.92[EUR][1000 genomes]
rs17161768	1.00[EUR][1000 genomes]
rs17161769	1.00[EUR][1000 genomes]
rs17161771	0.84[EUR][1000 genomes]
rs17161772	0.84[EUR][1000 genomes]
rs1985453	0.92[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057905	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2057906	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072181	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs2074652	0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2107705	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2240385	1.00[CEU][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2269985	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301889	0.84[GIH][hapmap]
rs2404322	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2404323	0.83[ASN][1000 genomes]
rs3764815	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3800960	1.00[CEU][hapmap];0.80[CHD][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs45492098	1.00[EUR][1000 genomes]
rs45540134	1.00[EUR][1000 genomes]
rs45622743	1.00[EUR][1000 genomes]
rs58222677	1.00[EUR][1000 genomes]
rs58249136	0.82[AFR][1000 genomes]
rs58421977	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59986060	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61159815	1.00[EUR][1000 genomes]
rs61402640	1.00[EUR][1000 genomes]
rs61543997	1.00[EUR][1000 genomes]
rs61748872	0.91[AFR][1000 genomes]
rs6943920	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs72494451	1.00[EUR][1000 genomes]
rs72494452	1.00[EUR][1000 genomes]
rs73709637	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73709641	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940336	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17161698	AZGP1	cis	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:98953800-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:98955000-98971600	Weak transcription	Right Atrium	heart
5	chr7:98955600-98970200	Weak transcription	Fetal Brain Male	brain
6	chr7:98956200-98970400	Weak transcription	Stomach Mucosa	stomach
7	chr7:98958200-98970000	Weak transcription	Fetal Heart	heart
8	chr7:98959400-98970400	Weak transcription	Psoas Muscle	Psoas
9	chr7:98959400-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:98961200-98971600	Weak transcription	Small Intestine	intestine
11	chr7:98962200-98971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:98962800-98970000	Weak transcription	Fetal Kidney	kidney
13	chr7:98962800-98971400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:98964200-98970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:98964400-98970000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:98964400-98970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:98964600-98970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:98964600-98970600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:98964600-98971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:98964600-98971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:98964800-98970200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:98964800-98971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:98964800-98971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:98965000-98969400	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:98965000-98970000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:98965000-98970000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:98965000-98970000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:98965000-98970000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:98965000-98970200	Weak transcription	Pancreas	Pancrea
30	chr7:98965000-98970200	Weak transcription	NH-A	brain
31	chr7:98965000-98970200	Weak transcription	NHDF-Ad	bronchial
32	chr7:98965000-98970400	Weak transcription	Fetal Lung	lung
33	chr7:98965000-98970800	Weak transcription	Primary T cells from cord blood	blood
34	chr7:98965000-98971400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:98965000-98971600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:98965000-98971600	Weak transcription	HMEC	breast
37	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
39	chr7:98965200-98969800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:98965200-98970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:98965200-98970000	Weak transcription	Brain Anterior Caudate	brain
42	chr7:98965200-98970000	Weak transcription	Colonic Mucosa	Colon
43	chr7:98965200-98970000	Weak transcription	Fetal Intestine Large	intestine
44	chr7:98965200-98970000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:98965200-98970000	Weak transcription	Thymus	Thymus
46	chr7:98965200-98970200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:98965200-98970200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:98965200-98970200	Weak transcription	Liver	Liver
49	chr7:98965200-98970200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:98965200-98970200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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