Variant report

Variant	rs6957186
Chromosome Location	chr7:107200592-107200593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:107200219-107200933	SK-N-SH	brain:	n/a	n/a
2	FOS	chr7:107200295-107200741	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr7:107200256-107200652	K562	blood:	n/a	n/a
4	CUX1	chr7:107200291-107200619	K562	blood:	n/a	n/a
5	E2F4	chr7:107200423-107200779	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFF	chr7:107200277-107200616	K562	blood:	n/a	n/a
7	STAT3	chr7:107200330-107200944	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr7:107200352-107200662	K562	blood:	n/a	n/a
9	MYC	chr7:107200410-107200687	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFK	chr7:107200273-107200620	HepG2	liver:	n/a	n/a
11	MAFK	chr7:107200220-107200697	IMR90	lung:	n/a	n/a
12	STAT3	chr7:107200338-107200727	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr7:107200332-107200687	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr7:107200285-107200743	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr7:107200312-107200743	MCF10A-Er-Src	breast:	n/a	n/a
16	MAFK	chr7:107200275-107200617	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:107200488-107200670	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr7:107200351-107200643	IMR90	lung:	n/a	n/a
19	FOS	chr7:107200328-107200721	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:107200568-107200708	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr7:107200366-107200633	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr7:107200492-107200604	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr7:107200496-107200705	K562	blood:	n/a	n/a
24	FOS	chr7:107200377-107200677	HUVEC	blood vessel:	n/a	n/a
25	STAT3	chr7:107200338-107200764	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr7:107200350-107200699	MCF10A-Er-Src	breast:	n/a	n/a
27	MAFF	chr7:107200269-107200604	HepG2	liver:	n/a	n/a
28	MAFK	chr7:107200267-107200632	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:107198384..107201175-chr7:107202662..107205691,4	MCF-7	breast:
2	chr7:107199299..107201422-chr7:107219574..107221620,2	MCF-7	breast:
3	chr7:107189343..107193583-chr7:107199075..107202683,4	K562	blood:
4	chr7:106976280..106978991-chr7:107200279..107202839,2	K562	blood:

No data

Variant related genes	Relation type
DUS4L	TF binding region
ENSG00000164597	Chromatin interaction
ENSG00000105865	Chromatin interaction
ENSG00000272854	Chromatin interaction
ENSG00000075790	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	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10953541	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes]
rs11532774	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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[CEU][hapmap];1.00[CHB][hapmap];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[CEU][hapmap];1.00[CHB][hapmap];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[CEU][hapmap];0.93[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17404067	0.94[CEU][hapmap];1.00[CHB][hapmap];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	0.94[CEU][hapmap];1.00[CHB][hapmap];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	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4730250	1.00[CEU][hapmap];1.00[CHB][hapmap];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]
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[CEU][hapmap];1.00[CHB][hapmap];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[CHB][hapmap];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[CEU][hapmap];1.00[CHB][hapmap];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
rs6957186	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	chr7:107195800-107201400	Weak transcription	Aorta	Aorta
24	chr7:107195800-107202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:107195800-107202800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:107196600-107202600	Weak transcription	Colonic Mucosa	Colon
27	chr7:107197000-107202600	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:107197200-107202800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:107197200-107202800	Weak transcription	Fetal Brain Female	brain
30	chr7:107197400-107203600	Weak transcription	Ovary	ovary
31	chr7:107197600-107202400	Weak transcription	Fetal Intestine Small	intestine
32	chr7:107197600-107203400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:107197600-107203400	Weak transcription	Thymus	Thymus
34	chr7:107197600-107203600	Weak transcription	Fetal Stomach	stomach
35	chr7:107197600-107203800	Weak transcription	Lung	lung
36	chr7:107197800-107201800	Weak transcription	Primary B cells from cord blood	blood
37	chr7:107197800-107202800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:107198000-107201400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:107198000-107203000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:107198000-107203000	Weak transcription	Fetal Lung	lung
41	chr7:107198000-107203400	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:107198200-107201400	Weak transcription	Fetal Thymus	thymus
43	chr7:107198200-107202600	Weak transcription	Brain Substantia Nigra	brain
44	chr7:107198200-107203600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:107198400-107201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:107198400-107201200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:107198400-107201400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:107198400-107203600	Weak transcription	Placenta	Placenta
49	chr7:107198600-107200600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:107198600-107200600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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