Variant report

Variant	rs6944607
Chromosome Location	chr7:2766877-2766878
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	chr7:2765987..2767682-chr7:2913183..2915422,2	MCF-7	breast:
2	chr7:2766265..2768017-chr7:2797659..2799254,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10480003	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11354	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719646	0.80[ASN][1000 genomes]
rs4719647	0.84[ASN][1000 genomes]
rs4719648	0.82[ASN][1000 genomes]
rs4719654	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4722006	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722008	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965989	0.84[ASN][1000 genomes]
rs709282	0.93[AFR][1000 genomes]
rs7797295	0.82[ASN][1000 genomes]
rs7805092	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs798531	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471227	chr7:2629020-2768864	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017611	chr7:2750418-2781716	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv538654	chr7:2750418-2781716	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6944607	GNA12	cis	Nerve Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2749400-2770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:2749800-2770800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:2750000-2767800	Weak transcription	Osteobl	bone
4	chr7:2750000-2768400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:2750000-2769000	Weak transcription	NHDF-Ad	bronchial
6	chr7:2751200-2768400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:2753600-2768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:2754800-2774200	Weak transcription	Fetal Brain Male	brain
10	chr7:2755800-2770600	Weak transcription	Fetal Kidney	kidney
11	chr7:2756000-2777800	Weak transcription	Psoas Muscle	Psoas
12	chr7:2756200-2770600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:2757200-2767400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:2757200-2770600	Weak transcription	Esophagus	oesophagus
15	chr7:2757600-2772800	Weak transcription	Small Intestine	intestine
16	chr7:2757800-2768200	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:2757800-2768400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:2758000-2768400	Weak transcription	HepG2	liver
19	chr7:2758000-2768600	Weak transcription	Right Atrium	heart
20	chr7:2758200-2768000	Strong transcription	Fetal Stomach	stomach
21	chr7:2758200-2769400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:2758600-2767200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:2758600-2769400	Strong transcription	Fetal Intestine Small	intestine
24	chr7:2758600-2769800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:2758600-2771600	Weak transcription	K562	blood
26	chr7:2759000-2768200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:2759200-2774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:2759400-2771600	Strong transcription	Pancreas	Pancrea
29	chr7:2760600-2767200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:2760600-2767200	Strong transcription	Lung	lung
31	chr7:2760800-2770200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:2761000-2767200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:2761000-2767800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:2761000-2768200	Weak transcription	NH-A	brain
35	chr7:2761000-2768800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:2761000-2773000	Weak transcription	A549	lung
37	chr7:2761000-2774200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:2761000-2774200	Weak transcription	GM12878-XiMat	blood
39	chr7:2761000-2774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
41	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:2761400-2772800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:2761800-2769400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:2762400-2767200	Strong transcription	Fetal Brain Female	brain
45	chr7:2762600-2772800	Strong transcription	Fetal Intestine Large	intestine
46	chr7:2762800-2767400	Strong transcription	Adipose Nuclei	Adipose
47	chr7:2762800-2767600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:2762800-2771200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:2762800-2771400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:2763400-2767800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links