Variant report

Variant	rs3757759
Chromosome Location	chr7:127694814-127694815
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127694685..127697419-chr7:127701664..127704398,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1024910	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11768841	0.82[AMR][1000 genomes]
rs1193331	0.82[AMR][1000 genomes]
rs1193333	0.86[AMR][1000 genomes]
rs1193335	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs124756	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345509	0.82[JPT][hapmap]
rs2241291	0.82[ASW][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2543477	0.83[AMR][1000 genomes]
rs322781	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs322813	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs322816	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322817	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322819	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322820	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322821	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322823	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs322825	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs322826	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs322827	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs322828	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs322829	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs322830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs322832	0.92[ASN][1000 genomes]
rs322833	0.92[ASN][1000 genomes]
rs322837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs322840	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757753	0.93[ASN][1000 genomes]
rs3757754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757760	0.82[ASW][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3757763	0.90[CHB][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.88[AMR][1000 genomes]
rs3757771	0.84[AMR][1000 genomes]
rs3779522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779523	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779526	0.82[JPT][hapmap]
rs3779527	0.91[AMR][1000 genomes]
rs3808055	0.93[ASN][1000 genomes]
rs3808056	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs3808077	0.81[CHB][hapmap]
rs3808078	0.80[AMR][1000 genomes]
rs3808086	0.82[AMR][1000 genomes]
rs3808088	0.85[CHB][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes]
rs3823995	0.82[JPT][hapmap]
rs62481450	0.80[AMR][1000 genomes]
rs6467155	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6467156	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6969233	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973092	0.82[JPT][hapmap]
rs7789322	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9791922	0.80[AMR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3757759	CCDC136	cis	parietal	SCAN
rs3757759	GPR37	cis	cerebellum	SCAN
rs3757759	GCC1	cis	lymphoblastoid	seeQTL
rs3757759	TCN2	trans	lymphoblastoid	seeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127670400-127698800	Weak transcription	Dnd41	blood
4	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
5	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
7	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:127675200-127695200	Weak transcription	Psoas Muscle	Psoas
10	chr7:127678000-127701200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:127680000-127697600	Weak transcription	Thymus	Thymus
12	chr7:127680400-127698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:127682000-127695400	Weak transcription	NHLF	lung
17	chr7:127683000-127696200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:127683200-127695200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:127683200-127696000	Weak transcription	Primary B cells from cord blood	blood
21	chr7:127683200-127700600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:127684400-127701400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:127684600-127697000	Weak transcription	Fetal Thymus	thymus
24	chr7:127685000-127710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:127686000-127696400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:127686400-127695400	Weak transcription	NH-A	brain
27	chr7:127686400-127695800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:127686400-127695800	Weak transcription	Osteobl	bone
29	chr7:127686400-127696000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:127689000-127696400	Weak transcription	Liver	Liver
31	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:127690000-127696200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:127690000-127697600	Weak transcription	GM12878-XiMat	blood
34	chr7:127690800-127696000	Weak transcription	HepG2	liver
35	chr7:127691400-127699200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:127692800-127695200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:127692800-127698800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:127692800-127699600	Weak transcription	Left Ventricle	heart
39	chr7:127692800-127703200	Weak transcription	Pancreas	Pancrea
40	chr7:127692800-127714400	Weak transcription	Right Ventricle	heart
41	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
42	chr7:127693000-127695800	Weak transcription	K562	blood
43	chr7:127693000-127698600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:127693200-127695600	Weak transcription	Stomach Mucosa	stomach
45	chr7:127693200-127695600	Weak transcription	HSMMtube	muscle
46	chr7:127693200-127695800	Weak transcription	NHEK	skin
47	chr7:127693200-127697800	Weak transcription	Fetal Heart	heart
48	chr7:127693200-127718400	Weak transcription	HMEC	breast
49	chr7:127693400-127695800	Weak transcription	Brain Substantia Nigra	brain
50	chr7:127693400-127696600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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