Variant report

Variant	rs798487
Chromosome Location	chr7:2802943-2802944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:2802023-2803461	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr7:2802177-2803615	IMR90	lung:	n/a	n/a
3	MAFK	chr7:2802627-2803588	IMR90	lung:	n/a	n/a
4	POLR2A	chr7:2802792-2803000	ProgFib	skin:	n/a	n/a
5	MAZ	chr7:2801882-2803312	IMR90	lung:	n/a	n/a
6	RAD21	chr7:2802379-2803162	IMR90	lung:	n/a	chr7:2802646-2802660
7	MXI1	chr7:2801857-2803591	IMR90	lung:	n/a	n/a
8	POLR2A	chr7:2802103-2803400	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr7:2802787-2802988	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOXP2	chr7:2802776-2803079	PFSK-1	brain:	n/a	n/a
11	CEBPB	chr7:2802680-2803152	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:2802942-2802992	NHBE	bronchial:	n/a
2	chr7:2802942-2802992	HRPEpiC	eye:	n/a
3	chr7:2802942-2802992	HMEC	breast:	n/a
4	chr7:2802942-2802992	SKMC	muscle:	n/a
5	chr7:2802942-2802992	T-47D	breast:	n/a
6	chr7:2802942-2802992	ProgFib	skin:	n/a
7	chr7:2802942-2802992	RPTEC	kidney:	n/a
8	chr7:2802942-2802992	AG09319	gingival:	n/a
9	chr7:2802942-2802992	PANC-1	pancreas:	n/a
10	chr7:2802942-2802992	HIPEpiC	eye:	n/a
11	chr7:2802942-2802992	NH-A	brain:	n/a
12	chr7:2802942-2802992	NT2-D1	testis:	n/a
13	chr7:2802942-2802992	NHDF-neo	bronchial:	n/a
14	chr7:2802942-2802992	Hela-S3	cervix:	n/a
15	chr7:2802942-2802992	CMK	blood:	n/a
16	chr7:2802942-2802992	HCF	heart:	n/a
17	chr7:2802942-2802992	AG10803	skin:	n/a
18	chr7:2802942-2802992	SK-N-SH	brain:	n/a
19	chr7:2802942-2802992	IMR90	lung:	fetal
20	chr7:2802942-2802992	SAEC	small airway:	n/a
21	chr7:2802942-2802992	BE2_C	brain:	n/a
22	chr7:2802942-2802992	HNPCEpiC	eye:	n/a
23	chr7:2802942-2802992	HEK293	kidney:	embryo
24	chr7:2802942-2802992	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:2802942-2802992	A549	lung:	n/a
26	chr7:2802942-2802992	GM12892	blood:	n/a
27	chr7:2802942-2802992	PrEC	prostate:	n/a
28	chr7:2802942-2802992	K562	blood:	n/a
29	chr7:2802942-2802992	Hepatocyte	liver:	n/a
30	chr7:2802942-2802992	HEEpiC	esophagus:	n/a
31	chr7:2802942-2802992	AG04450	lung:	fetal
32	chr7:2802942-2802992	ECC-1	luminal epithelium:	n/a
33	chr7:2802942-2802992	H1-hESC	embryonic stem cell:	embryo
34	chr7:2802942-2802992	HAEpiC	amniotic membrane:	n/a
35	chr7:2802942-2802992	GM12891	blood:	n/a
36	chr7:2802942-2802992	SK-N-SH_RA	brain:	n/a
37	chr7:2802942-2802992	LNCaP	prostate:	n/a
38	chr7:2802942-2802992	AoSMC	blood vessel:	n/a
39	chr7:2802942-2802992	Jurkat	blood:	n/a
40	chr7:2802942-2802992	NB4	blood:	n/a
41	chr7:2802942-2802992	HepG2	liver:	n/a
42	chr7:2802942-2802992	MCF10A-Er-Src	breast:	n/a
43	chr7:2802942-2802992	HCM	heart:	n/a
44	chr7:2802942-2802992	MCF-7	breast:	n/a
45	chr7:2802942-2802992	HL-60	blood:	n/a
46	chr7:2802942-2802992	GM06990	blood:	n/a
47	chr7:2802942-2802992	SK-N-MC	brain:	n/a
48	chr7:2802942-2802992	GM19239	blood:	n/a
49	chr7:2802942-2802992	HUVEC	blood vessel:	n/a
50	chr7:2802942-2802992	ovcar-3	ovarian:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:2801788..2804432-chr7:2882018..2884117,3	K562	blood:

No data

Variant related genes	Relation type
AMZ1	TF binding region
GNA12	TF binding region
GNA12	CpG island
AMZ1	CpG island
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1182172	0.83[EUR][1000 genomes]
rs1182174	0.86[EUR][1000 genomes]
rs1182176	0.85[EUR][1000 genomes]
rs1182177	0.85[EUR][1000 genomes]
rs1182178	0.85[EUR][1000 genomes]
rs1182179	0.85[EUR][1000 genomes]
rs1182181	0.85[EUR][1000 genomes]
rs1182182	0.85[EUR][1000 genomes]
rs1182183	0.85[EUR][1000 genomes]
rs1182184	0.85[EUR][1000 genomes]
rs1182185	0.84[EUR][1000 genomes]
rs1182186	0.85[EUR][1000 genomes]
rs1182187	0.87[EUR][1000 genomes]
rs1182188	0.87[EUR][1000 genomes]
rs1182189	0.87[EUR][1000 genomes]
rs1182198	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1182199	0.81[ASN][1000 genomes]
rs1182207	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1182208	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1182209	0.89[ASN][1000 genomes]
rs1183085	0.85[EUR][1000 genomes]
rs13243214	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1713919	0.86[EUR][1000 genomes]
rs2107964	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2158694	0.86[EUR][1000 genomes]
rs2248390	0.82[ASN][1000 genomes]
rs2251491	0.82[ASN][1000 genomes]
rs2260230	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2266922	0.87[ASN][1000 genomes]
rs2283779	0.97[ASN][1000 genomes]
rs2283783	0.82[ASN][1000 genomes]
rs2283784	0.82[ASN][1000 genomes]
rs2527683	0.91[ASN][1000 genomes]
rs2527684	0.91[ASN][1000 genomes]
rs2527687	0.85[ASN][1000 genomes]
rs2527690	0.83[ASN][1000 genomes]
rs2527692	0.82[ASN][1000 genomes]
rs2527694	0.81[ASN][1000 genomes]
rs2527695	0.81[ASN][1000 genomes]
rs2527696	0.81[ASN][1000 genomes]
rs2533878	0.83[EUR][1000 genomes]
rs2533879	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2533882	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533884	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2644274	0.82[ASN][1000 genomes]
rs2644275	0.82[ASN][1000 genomes]
rs2644294	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2644296	0.81[ASN][1000 genomes]
rs2644297	0.81[ASN][1000 genomes]
rs2644298	0.81[ASN][1000 genomes]
rs2644312	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35957220	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6970963	0.89[ASN][1000 genomes]
rs6978692	0.82[ASN][1000 genomes]
rs709282	0.90[ASN][1000 genomes]
rs7777484	0.93[ASN][1000 genomes]
rs7807978	0.93[ASN][1000 genomes]
rs798480	1.00[ASN][1000 genomes]
rs798481	0.84[ASN][1000 genomes]
rs798482	1.00[ASN][1000 genomes]
rs798485	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs798486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs798488	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs798489	0.91[EUR][1000 genomes]
rs798490	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs798491	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs798492	0.90[ASN][1000 genomes]
rs798493	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs798494	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs798495	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs798496	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs798497	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs798498	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs798499	0.88[ASN][1000 genomes]
rs798500	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs798502	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs798506	0.88[EUR][1000 genomes]
rs798508	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs798511	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs798512	0.90[ASN][1000 genomes]
rs798513	0.90[ASN][1000 genomes]
rs798514	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs798518	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs798526	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs798528	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs798531	0.90[ASN][1000 genomes]
rs798536	0.84[ASN][1000 genomes]
rs798540	0.81[ASN][1000 genomes]
rs798547	0.83[ASN][1000 genomes]
rs798550	0.83[ASN][1000 genomes]
rs798551	0.83[ASN][1000 genomes]
rs798552	0.83[ASN][1000 genomes]
rs798554	0.83[ASN][1000 genomes]
rs798555	0.86[ASN][1000 genomes]
rs798556	0.83[ASN][1000 genomes]
rs798557	0.86[ASN][1000 genomes]
rs798558	0.83[ASN][1000 genomes]
rs798559	0.83[ASN][1000 genomes]
rs798560	0.83[ASN][1000 genomes]
rs798562	0.85[ASN][1000 genomes]
rs798565	0.81[AMR][1000 genomes]
rs960273	0.87[EUR][1000 genomes];0.83[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	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
4	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
5	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
6	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs798487	GNA12	cis	Nerve Tibial	GTEx
rs798487	GNA12	cis	Artery Tibial	GTEx
rs798487	GNA12	Cis_1M	lymphoblastoid	RTeQTL
rs798487	GNA12	cis	multi-tissue	Pritchard

Chromatin state (count:114 , 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	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2791200-2803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:2796400-2803200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:2796400-2804000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:2796800-2803600	Weak transcription	Primary B cells from cord blood	blood
7	chr7:2796800-2804400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:2797000-2803200	Enhancers	Right Ventricle	heart
9	chr7:2797000-2803800	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:2797000-2805400	Enhancers	Placenta	Placenta
11	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:2798000-2803600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
14	chr7:2798200-2803200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:2798400-2803000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:2799000-2803800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:2799200-2804400	Enhancers	Ovary	ovary
18	chr7:2799200-2804600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:2799200-2817000	Weak transcription	Dnd41	blood
20	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:2799600-2803800	Genic enhancers	Fetal Stomach	stomach
22	chr7:2799600-2807600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:2799600-2825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:2800200-2803600	Enhancers	Fetal Heart	heart
25	chr7:2800200-2806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:2800200-2815800	Weak transcription	Liver	Liver
27	chr7:2800400-2804400	Enhancers	NHDF-Ad	bronchial
28	chr7:2800400-2810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:2800600-2803800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:2800600-2804600	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:2800800-2803000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:2800800-2803800	Enhancers	Brain Angular Gyrus	brain
33	chr7:2800800-2805600	Weak transcription	GM12878-XiMat	blood
34	chr7:2800800-2808000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:2800800-2817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:2800800-2818200	Weak transcription	Hela-S3	cervix
37	chr7:2801000-2803000	Weak transcription	Fetal Thymus	thymus
38	chr7:2801000-2803800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:2801000-2808600	Weak transcription	Brain Germinal Matrix	brain
40	chr7:2801000-2810200	Weak transcription	Gastric	stomach
41	chr7:2801000-2810200	Weak transcription	K562	blood
42	chr7:2801000-2811000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:2801000-2812800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:2801200-2803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:2801200-2803000	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr7:2801200-2803200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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