Variant report

Variant	rs61345051
Chromosome Location	chr11:73112305-73112306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73112261-73112767	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:73112182-73114764	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:73112184-73113346	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:73112209-73114863	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:73111228-73115333	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73112216-73112882	PANC-1	pancreas:	n/a	n/a
7	NFATC1	chr11:73112305-73112701	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:73112278-73112861	GM12891	blood:	n/a	n/a
9	USF1	chr11:73112255-73112517	K562	blood:	n/a	n/a
10	POLR2A	chr11:73112212-73112775	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:73112271-73115418	A549	lung:	n/a	n/a
12	POLR2A	chr11:73112300-73114898	K562	blood:	n/a	n/a
13	POLR2A	chr11:73112216-73113273	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:73111226-73115898	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:73112280-73112374	K562	blood:	n/a	n/a
16	POLR2A	chr11:73112150-73114968	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:73112234-73113258	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:73112198-73114117	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr11:73112255-73113466	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73111799..73116221-chr11:73117237..73120913,5	K562	blood:
2	chr11:73106551..73108996-chr11:73110299..73113242,3	K562	blood:
3	chr11:73111818..73115266-chr11:73122319..73124692,3	K562	blood:
4	chr11:73099755..73102272-chr11:73109128..73112969,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256928	TF binding region
ENSG00000256448	TF binding region
ENSG00000256928	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1002127	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544310	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544311	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099129	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288753	0.84[EUR][1000 genomes]
rs12290623	0.83[EUR][1000 genomes]
rs17244596	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17244602	0.83[AMR][1000 genomes]
rs17851510	0.87[EUR][1000 genomes]
rs1938777	0.80[EUR][1000 genomes]
rs2298469	0.84[EUR][1000 genomes]
rs28400367	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742470	1.00[AMR][1000 genomes]
rs57354084	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58334887	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58564192	0.83[AMR][1000 genomes]
rs60924672	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592526	0.91[AMR][1000 genomes]
rs7110369	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7112924	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114009	0.83[EUR][1000 genomes]
rs7115055	0.83[AMR][1000 genomes]
rs7118982	0.84[EUR][1000 genomes]
rs7129546	1.00[AMR][1000 genomes]
rs7129990	0.83[EUR][1000 genomes]
rs73542929	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542938	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542952	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542967	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542990	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73544710	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73544711	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73544716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73544720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73544729	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73544767	0.91[AMR][1000 genomes]
rs73544783	0.83[AMR][1000 genomes]
rs7925226	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941454	0.82[EUR][1000 genomes]
rs7951072	0.83[AMR][1000 genomes]
rs7951174	0.90[EUR][1000 genomes]

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	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61345051	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73095200-73116200	Weak transcription	Liver	Liver
2	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
8	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:73099400-73112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:73099400-73113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
14	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea
15	chr11:73100000-73118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:73100200-73117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:73100600-73118600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:73100800-73115800	Weak transcription	HMEC	breast
19	chr11:73101000-73116200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:73101000-73116400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
22	chr11:73101400-73112600	Weak transcription	HSMMtube	muscle
23	chr11:73103600-73118400	Weak transcription	Esophagus	oesophagus
24	chr11:73103800-73116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:73104000-73116200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:73104600-73112600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:73104600-73113200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:73104600-73113200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:73104600-73114400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:73104600-73123400	Strong transcription	Fetal Stomach	stomach
31	chr11:73104800-73112800	Weak transcription	Brain Germinal Matrix	brain
32	chr11:73104800-73114000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:73104800-73122600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:73105200-73116400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:73105200-73116800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:73105600-73116000	Weak transcription	Colonic Mucosa	Colon
37	chr11:73105800-73116600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:73106000-73114600	Weak transcription	HepG2	liver
39	chr11:73106200-73116400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:73106400-73113400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:73106400-73116600	Weak transcription	Gastric	stomach
42	chr11:73106400-73120200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:73106600-73112600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:73107000-73113800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:73107200-73114800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:73107200-73116200	Weak transcription	Lung	lung
47	chr11:73107800-73114000	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:73107800-73115800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:73107800-73116200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:73107800-73117600	Weak transcription	Rectal Mucosa Donor 31	rectum

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