Variant report

Variant	rs7430385
Chromosome Location	chr3:113144608-113144609
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11917869	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11919091	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11920233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11920468	1.00[AMR][1000 genomes]
rs11920795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11921249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11922003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11924899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11925633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11926656	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11929188	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16845110	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860700	1.00[AMR][1000 genomes]
rs16860716	1.00[AMR][1000 genomes]
rs16860732	1.00[AMR][1000 genomes]
rs16860748	1.00[AMR][1000 genomes]
rs16860752	1.00[AMR][1000 genomes]
rs16860782	1.00[AMR][1000 genomes]
rs16860800	1.00[AMR][1000 genomes]
rs16860854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16861019	1.00[AMR][1000 genomes]
rs16861059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16861115	1.00[AMR][1000 genomes]
rs4082653	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113074400-113184400	Weak transcription	Hela-S3	cervix
2	chr3:113099600-113144800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:113102200-113148800	Weak transcription	Brain Angular Gyrus	brain
4	chr3:113107200-113145200	Weak transcription	Aorta	Aorta
5	chr3:113109200-113159800	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:113111600-113146400	Weak transcription	Brain Substantia Nigra	brain
7	chr3:113112200-113148400	Weak transcription	Brain Anterior Caudate	brain
8	chr3:113113000-113145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:113117600-113148400	Weak transcription	Placenta	Placenta
10	chr3:113119600-113145200	Weak transcription	Lung	lung
11	chr3:113122400-113144800	Weak transcription	Pancreas	Pancrea
12	chr3:113122800-113144800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:113132600-113146400	Weak transcription	Right Ventricle	heart
14	chr3:113133200-113147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:113134600-113144800	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:113134600-113159800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:113135000-113145600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:113135200-113144800	Weak transcription	Fetal Lung	lung
19	chr3:113135200-113164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:113136000-113145600	Weak transcription	Fetal Intestine Small	intestine
21	chr3:113136000-113176400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:113136600-113144800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:113137000-113144800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:113137000-113145600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:113137200-113144800	Weak transcription	Gastric	stomach
26	chr3:113137400-113148600	Weak transcription	Small Intestine	intestine
27	chr3:113137400-113160000	Weak transcription	Fetal Stomach	stomach
28	chr3:113137600-113145200	Weak transcription	Esophagus	oesophagus
29	chr3:113140000-113145400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:113140000-113160000	Weak transcription	Psoas Muscle	Psoas
31	chr3:113140600-113144800	Weak transcription	Colonic Mucosa	Colon
32	chr3:113140800-113145000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:113141400-113145400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:113141400-113147800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:113142800-113144800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr3:113143000-113147400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:113143200-113144800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:113143200-113145200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:113143200-113146000	ZNF genes & repeats	GM12878-XiMat	blood
40	chr3:113143200-113146800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:113143400-113145600	Weak transcription	Spleen	Spleen
42	chr3:113143400-113146200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:113143400-113146600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:113143400-113147200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr3:113143400-113147200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:113143400-113147600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:113143600-113145000	ZNF genes & repeats	A549	lung
48	chr3:113143600-113145600	Strong transcription	Dnd41	blood
49	chr3:113143600-113146000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr3:113143600-113146000	Strong transcription	Fetal Intestine Large	intestine

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