Variant report

Variant	rs757791
Chromosome Location	chr7:2867296-2867297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2728674..2730877-chr7:2866251..2868525,3	MCF-7	breast:
2	chr7:2865761..2868437-chr7:2870160..2873131,2	K562	blood:
3	chr7:2861472..2864463-chr7:2865444..2867684,3	MCF-7	breast:
4	chr7:2865761..2868470-chr7:2869606..2871660,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1182173	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1182174	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1182175	0.88[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.80[LWK][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1182176	0.81[ASN][1000 genomes]
rs1182177	0.83[CHB][hapmap]
rs1182179	0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1182180	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1182181	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs1182182	0.82[ASN][1000 genomes]
rs1182183	0.82[ASN][1000 genomes]
rs1182185	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1182186	0.83[ASN][1000 genomes]
rs1182188	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs1182189	0.83[CHB][hapmap]
rs1182190	1.00[ASW][hapmap];0.92[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1182191	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1182192	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1182193	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1182194	0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1182195	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1182196	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1182197	0.85[JPT][hapmap];0.88[AFR][1000 genomes]
rs1182198	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1182199	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1182208	0.93[JPT][hapmap]
rs1182209	0.88[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13243214	0.81[ASN][1000 genomes]
rs1636264	0.82[ASW][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1713919	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs1713920	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2107964	0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2158694	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2248390	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2251491	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2260230	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2266922	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2283779	0.86[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2283783	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283784	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2527683	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2527684	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2527687	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2527690	0.82[CEU][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2527692	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2527694	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2527695	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2527696	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2533878	0.85[CHD][hapmap]
rs2533879	0.91[ASN][1000 genomes]
rs2533882	0.89[ASN][1000 genomes]
rs2533885	0.86[AFR][1000 genomes]
rs2644274	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2644275	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2644294	0.83[ASN][1000 genomes]
rs2644295	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2644296	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644297	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644298	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644304	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2644306	0.92[YRI][hapmap]
rs2644312	0.94[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6970963	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978692	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757786	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7777484	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7807978	0.94[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs798485	0.94[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap]
rs798486	0.94[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap]
rs798488	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs798490	0.89[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap]
rs798491	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs798492	0.85[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs798494	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs798495	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs798497	0.80[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap]
rs798498	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs798499	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs798500	0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap]
rs798503	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[GIH][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs798512	0.88[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap]
rs798518	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs798528	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs798548	0.85[CHD][hapmap];0.86[JPT][hapmap]
rs798554	0.85[CHD][hapmap];0.86[JPT][hapmap]
rs798556	0.86[JPT][hapmap]
rs798557	0.88[CHB][hapmap]
rs960273	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv1019463	chr7:2848448-2881872	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs757791	GNA12	cis	lymphoblastoid	seeQTL
rs757791	HEATR2	cis	cerebellum	SCAN
rs757791	GNA12	cis	Nerve Tibial	GTEx
rs757791	NUDT1	cis	parietal	SCAN
rs757791	GNA12	Cis_1M	lymphoblastoid	RTeQTL
rs757791	GNA12	cis	multi-tissue	Pritchard
rs757791	LOC392620	cis	multi-tissue	Pritchard
rs757791		cis	Lymphoblastoid	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2842600-2869400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:2848800-2874800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:2851600-2869600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:2851800-2882800	Weak transcription	Aorta	Aorta
5	chr7:2854000-2874800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:2858200-2868200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:2861000-2881800	Weak transcription	Colonic Mucosa	Colon
8	chr7:2861200-2877000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:2861400-2874000	Weak transcription	Dnd41	blood
10	chr7:2861400-2876600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:2861400-2882200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:2861400-2883000	Weak transcription	Thymus	Thymus
13	chr7:2861800-2874600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:2861800-2882400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:2862000-2870600	Weak transcription	Hela-S3	cervix
16	chr7:2862200-2882600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:2862800-2882400	Weak transcription	A549	lung
18	chr7:2863000-2878600	Weak transcription	Small Intestine	intestine
19	chr7:2863200-2876600	Weak transcription	HUVEC	blood vessel
20	chr7:2863600-2872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:2863800-2881600	Weak transcription	HMEC	breast
22	chr7:2864000-2871600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:2864200-2874000	Weak transcription	Adipose Nuclei	Adipose
24	chr7:2864200-2874600	Weak transcription	Fetal Brain Female	brain
25	chr7:2864200-2881000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:2864200-2882800	Weak transcription	Esophagus	oesophagus
27	chr7:2864600-2874400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:2864600-2875000	Weak transcription	Gastric	stomach
29	chr7:2864800-2868800	Weak transcription	K562	blood
30	chr7:2864800-2871600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:2864800-2874600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:2864800-2877200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:2864800-2878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:2864800-2881800	Weak transcription	Fetal Thymus	thymus
35	chr7:2865000-2872400	Weak transcription	Brain Germinal Matrix	brain
36	chr7:2865000-2877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:2865000-2882400	Weak transcription	Fetal Kidney	kidney
38	chr7:2865200-2869200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:2865200-2869600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:2865200-2874400	Weak transcription	GM12878-XiMat	blood
41	chr7:2865200-2876600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:2865200-2877800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:2865200-2878600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:2865400-2867600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:2865400-2867800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:2865400-2868200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:2865400-2868800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:2865400-2870000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:2865400-2870200	Weak transcription	Primary B cells from cord blood	blood
50	chr7:2865400-2871400	Weak transcription	Primary hematopoietic stem cells	blood

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