Variant report

Variant	rs2527521
Chromosome Location	chr7:2904928-2904929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
2	chr7:2904357..2905298-chr7:3194209..3195076,4	K562	blood:
3	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
4	chr7:2896657..2898965-chr7:2903247..2905265,2	MCF-7	breast:
5	chr7:2882306..2885910-chr7:2901296..2905578,5	MCF-7	breast:
6	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
7	chr7:2725769..2728624-chr7:2901720..2905056,3	MCF-7	breast:
8	chr7:2904504..2905327-chr7:3936730..3937942,4	K562	blood:
9	chr7:2903257..2906477-chr7:2913665..2917327,3	K562	blood:
10	chr7:2904486..2905293-chr7:3103659..3104561,2	MCF-7	breast:
11	chr7:2897460..2900417-chr7:2901326..2905406,6	K562	blood:
12	chr7:2901153..2906506-chr7:2906847..2911402,6	K562	blood:
13	chr7:2773431..2776553-chr7:2903290..2905361,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1182141	0.81[CHB][hapmap]
rs1182142	0.84[CHD][hapmap]
rs1182143	0.82[CHB][hapmap]
rs1182144	0.84[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1183079	0.98[ASN][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	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
2	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
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2527521	GNA12	Cis_1M	lymphoblastoid	RTeQTL
rs2527521	GNA12	cis	lymphoblastoid	seeQTL
rs2527521	GNA12	cis	Nerve Tibial	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2900600-2910400	Weak transcription	Esophagus	oesophagus
2	chr7:2901600-2905200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:2902000-2905000	Enhancers	NHDF-Ad	bronchial
4	chr7:2902000-2905200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:2902000-2905200	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:2902000-2905200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:2902200-2905000	Enhancers	Placenta	Placenta
8	chr7:2902200-2905200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:2902400-2905000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:2902400-2905000	Enhancers	Lung	lung
11	chr7:2902600-2905200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:2902600-2905200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:2902600-2905200	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:2902600-2905200	Enhancers	Fetal Muscle Leg	muscle
15	chr7:2902600-2905200	Enhancers	Fetal Stomach	stomach
16	chr7:2902800-2905200	Enhancers	Fetal Thymus	thymus
17	chr7:2903200-2905000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:2903400-2905000	Enhancers	Ovary	ovary
19	chr7:2903400-2911400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:2903600-2905000	Enhancers	Brain Hippocampus Middle	brain
21	chr7:2903600-2905000	Enhancers	Colon Smooth Muscle	Colon
22	chr7:2903600-2905200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:2903600-2905400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:2903600-2910000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:2903600-2910000	Weak transcription	Thymus	Thymus
26	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:2903800-2905000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:2903800-2905000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:2903800-2905000	Enhancers	Stomach Mucosa	stomach
30	chr7:2903800-2905000	Enhancers	HMEC	breast
31	chr7:2903800-2905200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:2903800-2905200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:2903800-2905200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:2903800-2905200	Enhancers	Colonic Mucosa	Colon
35	chr7:2903800-2905200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:2903800-2905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:2903800-2905400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:2903800-2909800	Weak transcription	Left Ventricle	heart
39	chr7:2903800-2910000	Weak transcription	Pancreas	Pancrea
40	chr7:2903800-2912800	Weak transcription	Right Atrium	heart
41	chr7:2903800-2914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:2904000-2905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:2904000-2905000	Enhancers	Adipose Nuclei	Adipose
46	chr7:2904000-2905000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:2904000-2905000	Enhancers	GM12878-XiMat	blood
48	chr7:2904000-2905000	Enhancers	HUVEC	blood vessel
49	chr7:2904000-2905000	Enhancers	NHLF	lung
50	chr7:2904000-2905200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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