Variant report

Variant	rs7790322
Chromosome Location	chr7:2830498-2830499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2825414..2827300-chr7:2829208..2831201,2	K562	blood:
2	chr7:2829606..2831716-chr7:2848209..2850258,2	MCF-7	breast:
3	chr7:2825414..2828285-chr7:2829208..2832535,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1182206	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs1182208	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1183085	1.00[YRI][hapmap]
rs13243214	0.83[AFR][1000 genomes]
rs208346	0.90[JPT][hapmap]
rs208356	0.84[CHB][hapmap]
rs2255541	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2255782	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs2258709	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2258960	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2260230	0.86[AFR][1000 genomes]
rs2266923	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs2527686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2527689	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2533878	1.00[YRI][hapmap]
rs2533879	0.83[AFR][1000 genomes]
rs2533885	0.92[ASN][1000 genomes]
rs2533886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2533888	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2533890	0.97[ASN][1000 genomes]
rs2644272	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2644294	0.83[AFR][1000 genomes]
rs2644306	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2644307	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644311	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs3846992	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs709280	0.87[CHB][hapmap]
rs757786	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs757787	0.97[ASN][1000 genomes]
rs798500	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs798515	0.81[CHB][hapmap]
rs798517	0.83[CHB][hapmap]
rs798519	0.84[CHB][hapmap]
rs798521	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs798522	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs798525	0.84[CHB][hapmap]
rs798527	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs798530	0.83[CHB][hapmap]
rs798557	1.00[YRI][hapmap]
rs960273	1.00[YRI][hapmap];0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7790322	GNA12	cis	multi-tissue	Pritchard
rs7790322	GNA12	cis	Artery Tibial	GTEx
rs7790322	GNA12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:2810800-2840800	Weak transcription	Stomach Mucosa	stomach
8	chr7:2812600-2831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:2814400-2838800	Weak transcription	K562	blood
10	chr7:2815600-2831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:2815800-2840600	Weak transcription	Fetal Brain Male	brain
12	chr7:2816200-2831600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:2816400-2831600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:2818400-2831200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:2819200-2831600	Weak transcription	Hela-S3	cervix
16	chr7:2822400-2835000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:2822600-2841000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:2822800-2834800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:2823600-2835000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:2824000-2842800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:2824400-2836600	Weak transcription	Small Intestine	intestine
22	chr7:2824800-2834800	Strong transcription	Fetal Intestine Small	intestine
23	chr7:2824800-2835000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:2825000-2830600	Weak transcription	HMEC	breast
25	chr7:2825000-2831000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:2825000-2835000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:2825000-2835000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:2825200-2831200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:2825200-2831200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:2825200-2831600	Weak transcription	Fetal Kidney	kidney
31	chr7:2825200-2834800	Strong transcription	NHLF	lung
32	chr7:2825400-2830800	Weak transcription	NH-A	brain
33	chr7:2825400-2831200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:2825400-2831800	Weak transcription	GM12878-XiMat	blood
35	chr7:2825400-2831800	Weak transcription	HUVEC	blood vessel
36	chr7:2825600-2832600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:2825600-2834600	Strong transcription	Fetal Lung	lung
38	chr7:2825600-2835000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:2825600-2835000	Strong transcription	HepG2	liver
40	chr7:2825600-2835200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:2825600-2835200	Strong transcription	Fetal Muscle Leg	muscle
42	chr7:2825800-2834800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:2826000-2835000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:2826200-2835000	Strong transcription	Fetal Intestine Large	intestine
45	chr7:2826400-2833400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:2826400-2834800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr7:2826400-2835000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:2826400-2835200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:2826600-2831800	Strong transcription	Lung	lung
50	chr7:2826800-2831200	Weak transcription	NHDF-Ad	bronchial

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