Variant report

Variant	rs11769168
Chromosome Location	chr7:128086259-128086260
allele	A/G
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	MXI1	chr7:128086058-128087387	SK-N-SH	brain:	n/a	n/a
2	GATA2	chr7:128086209-128086686	SH-SY5Y	brain:	n/a	chr7:128086470-128086477 chr7:128086234-128086241 chr7:128086459-128086476 chr7:128086470-128086477 chr7:128086470-128086477 chr7:128086470-128086481
3	MAFK	chr7:128086122-128086294	HepG2	liver:	n/a	chr7:128086229-128086244

No.	Distal block	Cell Line	Cell type
1	chr7:128066861..128069656-chr7:128084982..128087017,2	MCF-7	breast:
2	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
3	chr7:128081121..128082834-chr7:128084423..128086408,3	K562	blood:
4	chr7:128083686..128086427-chr7:128093165..128095584,3	K562	blood:
5	chr7:128080630..128083451-chr7:128085283..128088252,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-54P	TF binding region
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1048531	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10954185	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763326	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764599	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766743	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11769087	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769333	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.93[MKK][hapmap]
rs11771063	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771514	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532613	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540060	0.82[AMR][1000 genomes]
rs12540762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540808	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1864232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288550	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2288554	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35501542	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3793164	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55706726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57124454	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57715170	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58727049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481099	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481100	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481103	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481115	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481116	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11769168	GPR37	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
3	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:128084000-128090000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:128084400-128088800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:128084600-128095800	Weak transcription	Gastric	stomach
7	chr7:128084800-128086400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:128084800-128092000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:128084800-128093600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:128084800-128093800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:128085000-128088000	Weak transcription	GM12878-XiMat	blood
12	chr7:128085800-128087000	Enhancers	K562	blood
13	chr7:128086000-128087000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:128086000-128087000	Enhancers	Adipose Nuclei	Adipose
15	chr7:128086000-128087000	Enhancers	Fetal Muscle Leg	muscle
16	chr7:128086200-128086600	Enhancers	Right Atrium	heart
17	chr7:128086200-128086800	Enhancers	Fetal Lung	lung
18	chr7:128086200-128086800	Enhancers	Right Ventricle	heart
19	chr7:128086200-128087000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:128086200-128087000	Enhancers	Fetal Heart	heart
21	chr7:128086200-128087000	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:128086200-128087000	Enhancers	Ovary	ovary
23	chr7:128086200-128087000	Enhancers	A549	lung
24	chr7:128086200-128087000	Enhancers	HSMMtube	muscle
25	chr7:128086200-128087200	Enhancers	Brain Germinal Matrix	brain

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