Variant report

Variant	rs4720109
Chromosome Location	chr7:33197613-33197614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1019300	0.87[EUR][1000 genomes]
rs10228439	0.87[EUR][1000 genomes]
rs10233296	0.83[EUR][1000 genomes]
rs10250045	0.83[EUR][1000 genomes]
rs10268074	0.83[EUR][1000 genomes]
rs10270013	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10278145	0.87[EUR][1000 genomes]
rs10279081	0.84[EUR][1000 genomes]
rs10279513	0.81[EUR][1000 genomes]
rs1030029	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10951382	0.83[EUR][1000 genomes]
rs10951383	0.83[EUR][1000 genomes]
rs12155105	0.83[EUR][1000 genomes]
rs12537278	0.83[EUR][1000 genomes]
rs12537836	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12671191	0.83[EUR][1000 genomes]
rs1345307	0.83[EUR][1000 genomes]
rs1345308	0.87[EUR][1000 genomes]
rs1362371	0.87[EUR][1000 genomes]
rs1420147	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1420155	0.86[EUR][1000 genomes]
rs1420158	0.87[EUR][1000 genomes]
rs1548880	0.81[ASN][1000 genomes]
rs1592465	0.83[EUR][1000 genomes]
rs1592466	0.87[EUR][1000 genomes]
rs1592467	0.87[EUR][1000 genomes]
rs1819826	0.82[EUR][1000 genomes]
rs1894873	0.87[EUR][1000 genomes]
rs1969575	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2024430	0.83[EUR][1000 genomes]
rs2392230	0.87[EUR][1000 genomes]
rs4720115	0.87[EUR][1000 genomes]
rs4723261	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723265	0.82[ASN][1000 genomes]
rs5012441	0.83[EUR][1000 genomes]
rs6462463	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6462464	0.87[EUR][1000 genomes]
rs6944623	0.83[EUR][1000 genomes]
rs6950434	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs721533	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs764041	0.83[EUR][1000 genomes]
rs7776834	0.81[ASN][1000 genomes]
rs7778657	0.84[EUR][1000 genomes]
rs7778892	0.83[EUR][1000 genomes]
rs7780194	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783610	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7789344	0.87[EUR][1000 genomes]
rs7791710	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7803065	0.83[EUR][1000 genomes]
rs7806637	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809540	0.88[EUR][1000 genomes]
rs964707	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs986553	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv933792	chr7:33169693-33216984	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33170200-33205800	Weak transcription	Aorta	Aorta
2	chr7:33171200-33205800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:33171200-33206600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:33176400-33206000	Weak transcription	Liver	Liver
5	chr7:33182400-33210200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:33182800-33205600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:33184600-33205800	Weak transcription	Fetal Lung	lung
8	chr7:33184800-33217200	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:33185000-33205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:33185400-33218000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:33185600-33205600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:33185600-33224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:33189200-33206800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:33190000-33217600	Weak transcription	Left Ventricle	heart
15	chr7:33190200-33230400	Weak transcription	Gastric	stomach
16	chr7:33191400-33205800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:33191600-33205800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:33191800-33199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:33192000-33205600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:33192200-33199800	Weak transcription	Primary B cells from cord blood	blood
21	chr7:33192600-33205000	Weak transcription	Fetal Stomach	stomach
22	chr7:33193000-33205600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:33193400-33197800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:33193600-33205800	Weak transcription	Fetal Brain Female	brain
25	chr7:33194000-33205800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:33194200-33197800	Enhancers	Osteobl	bone
27	chr7:33194600-33198000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:33194600-33205800	Weak transcription	Ovary	ovary
29	chr7:33194600-33205800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:33195200-33197800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:33195200-33206400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:33195200-33220200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:33195800-33199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:33195800-33205800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:33196000-33205800	Weak transcription	Brain Germinal Matrix	brain
36	chr7:33196600-33197800	Enhancers	NHLF	lung
37	chr7:33196800-33217200	Weak transcription	Brain Substantia Nigra	brain
38	chr7:33197000-33222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:33197200-33200600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:33197200-33202600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:33197200-33220400	Weak transcription	Brain Anterior Caudate	brain
42	chr7:33197400-33198200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:33197400-33198400	Enhancers	NHDF-Ad	bronchial
44	chr7:33197400-33207400	Weak transcription	Small Intestine	intestine
45	chr7:33197600-33198000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:33197600-33198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:33197600-33199000	Weak transcription	Primary T cells from cord blood	blood
48	chr7:33197600-33205800	Weak transcription	Adipose Nuclei	Adipose
49	chr7:33197600-33205800	Weak transcription	Colon Smooth Muscle	Colon

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