Variant report

Variant	rs11532774
Chromosome Location	chr7:107201579-107201580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:107201263-107201684	K562	blood:	n/a	chr7:107201436-107201450 chr7:107201440-107201451 chr7:107201435-107201449 chr7:107201438-107201455 chr7:107201437-107201450 chr7:107201439-107201449 chr7:107201480-107201490 chr7:107201480-107201494 chr7:107201439-107201450 chr7:107201476-107201490
2	IRF1	chr7:107201284-107201734	K562	blood:	n/a	chr7:107201436-107201450 chr7:107201440-107201451 chr7:107201435-107201449 chr7:107201438-107201455 chr7:107201437-107201450 chr7:107201439-107201449 chr7:107201480-107201490 chr7:107201480-107201494 chr7:107201439-107201450 chr7:107201476-107201490

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107189343..107193583-chr7:107199075..107202683,4	K562	blood:
2	chr7:106976280..106978991-chr7:107200279..107202839,2	K562	blood:

Variant related genes	Relation type
DUS4L	TF binding region
ENSG00000164597	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10464499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10464620	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10953541	1.00[JPT][hapmap];0.87[AFR][1000 genomes]
rs11766131	0.86[ASN][1000 genomes]
rs11770061	0.86[ASN][1000 genomes]
rs12056231	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533694	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12534124	0.92[ASN][1000 genomes]
rs12535038	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12535761	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12539895	0.90[ASN][1000 genomes]
rs13234124	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17403088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17404067	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17481621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17481842	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17482494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17482543	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978085	0.92[ASN][1000 genomes]
rs2283041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299428	0.93[ASN][1000 genomes]
rs2395880	0.86[ASN][1000 genomes]
rs2395881	0.86[ASN][1000 genomes]
rs34084719	0.92[ASN][1000 genomes]
rs34523267	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3779497	0.87[ASN][1000 genomes]
rs4515482	0.86[ASN][1000 genomes]
rs4727683	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730248	0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4730250	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56949084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6945784	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6947674	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6957186	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6964395	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6976759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6979198	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6979368	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs763386	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7785085	0.91[AMR][1000 genomes]
rs7785962	1.00[JPT][hapmap];0.87[AFR][1000 genomes]
rs7797791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7801317	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7807154	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8180747	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11532774	GPR22	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
2	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:107179400-107203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:107185000-107203600	Weak transcription	Gastric	stomach
5	chr7:107185200-107203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:107185200-107203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:107186000-107203000	Weak transcription	Brain Germinal Matrix	brain
8	chr7:107186000-107203600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:107186200-107203600	Weak transcription	Esophagus	oesophagus
10	chr7:107186200-107203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:107186800-107203000	Weak transcription	A549	lung
12	chr7:107186800-107203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:107187400-107203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:107188000-107202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:107188000-107203800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:107190000-107203400	Weak transcription	Fetal Brain Male	brain
17	chr7:107193600-107203400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:107195000-107203600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:107195400-107201800	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:107195600-107202000	Weak transcription	Left Ventricle	heart
21	chr7:107195600-107202800	Weak transcription	Brain Angular Gyrus	brain
22	chr7:107195600-107203400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:107195800-107202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:107195800-107202800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:107196600-107202600	Weak transcription	Colonic Mucosa	Colon
26	chr7:107197000-107202600	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:107197200-107202800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:107197200-107202800	Weak transcription	Fetal Brain Female	brain
29	chr7:107197400-107203600	Weak transcription	Ovary	ovary
30	chr7:107197600-107202400	Weak transcription	Fetal Intestine Small	intestine
31	chr7:107197600-107203400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:107197600-107203400	Weak transcription	Thymus	Thymus
33	chr7:107197600-107203600	Weak transcription	Fetal Stomach	stomach
34	chr7:107197600-107203800	Weak transcription	Lung	lung
35	chr7:107197800-107201800	Weak transcription	Primary B cells from cord blood	blood
36	chr7:107197800-107202800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:107198000-107203000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:107198000-107203000	Weak transcription	Fetal Lung	lung
39	chr7:107198000-107203400	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:107198200-107202600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:107198200-107203600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:107198400-107203600	Weak transcription	Placenta	Placenta
43	chr7:107198600-107201600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:107198600-107202400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:107198600-107202600	Weak transcription	Fetal Intestine Large	intestine
46	chr7:107198600-107202800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:107198600-107202800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:107198600-107203000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:107198600-107203000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:107198600-107203600	Weak transcription	Fetal Muscle Trunk	muscle

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