Variant report

Variant	rs3757771
Chromosome Location	chr7:127538559-127538560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127525174..127527787-chr7:127536931..127538683,2	K562	blood:
2	chr7:127535349..127538608-chr7:127539437..127541786,4	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1024910	0.84[AMR][1000 genomes]
rs10954164	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11768841	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11772303	0.81[AMR][1000 genomes]
rs1193333	0.80[ASN][1000 genomes]
rs1193335	0.81[AMR][1000 genomes]
rs124756	0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs12539411	0.83[AMR][1000 genomes]
rs12668077	0.88[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12672945	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12673293	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1419967	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1419968	0.82[JPT][hapmap]
rs16871926	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17151229	0.82[AMR][1000 genomes]
rs17151377	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17151470	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2058457	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2241291	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2402871	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs322813	0.81[AMR][1000 genomes]
rs322816	0.81[AMR][1000 genomes]
rs322817	0.83[AMR][1000 genomes]
rs322819	0.85[CHB][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs322820	0.81[CHB][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs322821	0.81[CHB][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs322822	0.84[AMR][1000 genomes]
rs322823	0.84[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap]
rs322824	0.84[AMR][1000 genomes]
rs322825	0.85[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs322826	0.80[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs322829	0.84[AMR][1000 genomes]
rs322830	0.84[AMR][1000 genomes]
rs322837	0.84[AMR][1000 genomes]
rs322840	0.85[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs3757754	0.84[AMR][1000 genomes]
rs3757759	0.84[AMR][1000 genomes]
rs3757760	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs3757763	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3757778	0.83[AMR][1000 genomes]
rs3757780	0.86[AMR][1000 genomes]
rs3779522	0.84[AMR][1000 genomes]
rs3779523	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs3779527	0.83[AMR][1000 genomes]
rs3808056	0.80[CHB][hapmap]
rs3808077	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs3808078	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808086	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3808088	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3824003	0.86[AMR][1000 genomes]
rs4728079	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4728080	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731377	0.81[AMR][1000 genomes]
rs58106688	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59140894	0.84[AMR][1000 genomes]
rs62481416	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62481419	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62481443	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481447	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481450	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6467155	0.85[AMR][1000 genomes]
rs6467156	0.85[AMR][1000 genomes]
rs67338333	0.83[AMR][1000 genomes]
rs6969233	0.84[AMR][1000 genomes]
rs712719	0.83[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap]
rs765971	0.86[AMR][1000 genomes]
rs7789322	0.84[AMR][1000 genomes]
rs882694	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9791922	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[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	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
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3757771	COPG2	cis	cerebellum	SCAN
rs3757771	ZNF800	cis	cerebellum	SCAN
rs3757771	GPR37	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
2	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:127524800-127540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:127526600-127540600	Weak transcription	Fetal Brain Female	brain
8	chr7:127526600-127540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:127526800-127539600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:127527200-127540400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:127528800-127540400	Weak transcription	Colonic Mucosa	Colon
12	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:127529000-127540200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
15	chr7:127529200-127540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:127529200-127540400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:127529200-127540800	Weak transcription	Spleen	Spleen
18	chr7:127529200-127544600	Weak transcription	Thymus	Thymus
19	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
20	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
22	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:127529400-127542200	Weak transcription	Fetal Heart	heart
24	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:127530800-127540400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:127531200-127540400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:127531600-127540400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:127531800-127542000	Weak transcription	Fetal Kidney	kidney
29	chr7:127532200-127540000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
31	chr7:127532400-127539600	Weak transcription	Aorta	Aorta
32	chr7:127532400-127540600	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:127532400-127540600	Weak transcription	Gastric	stomach
34	chr7:127532400-127547400	Weak transcription	A549	lung
35	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:127532600-127540000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:127532600-127541000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:127532600-127541200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:127532600-127546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:127532800-127539800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:127532800-127539800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:127532800-127540400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:127532800-127540400	Weak transcription	Placenta	Placenta
44	chr7:127532800-127540800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:127532800-127541000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:127532800-127541600	Weak transcription	Dnd41	blood
47	chr7:127532800-127544800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:127532800-127545600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:127533000-127540600	Weak transcription	Liver	Liver
50	chr7:127533000-127540800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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