Variant report

Variant	rs73116660
Chromosome Location	chr4:26910437-26910438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10028164	1.00[EUR][1000 genomes]
rs10031905	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs1860981	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2192241	1.00[EUR][1000 genomes]
rs2309497	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4140681	1.00[EUR][1000 genomes]
rs4599399	1.00[EUR][1000 genomes]
rs4692016	1.00[EUR][1000 genomes]
rs4692017	1.00[EUR][1000 genomes]
rs4692018	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692138	1.00[EUR][1000 genomes]
rs55646519	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001106	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56810203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57810647	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59530500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6841079	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858361	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	1.00[EUR][1000 genomes]
rs73116653	1.00[EUR][1000 genomes]
rs73116655	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116657	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116665	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116670	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116672	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116675	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7670520	1.00[EUR][1000 genomes]
rs7688601	1.00[EUR][1000 genomes]
rs887792	1.00[EUR][1000 genomes]
rs887794	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9790760	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26880600-26921600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:26886600-26921600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:26898400-26914400	Weak transcription	HSMM	muscle
4	chr4:26900400-26913200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:26902800-26912400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:26902800-26914400	Weak transcription	Right Atrium	heart
7	chr4:26903000-26913000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:26904400-26913800	Weak transcription	Left Ventricle	heart
9	chr4:26906000-26910600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:26906800-26912000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:26907000-26913000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:26907000-26913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:26907000-26914400	Weak transcription	Psoas Muscle	Psoas
14	chr4:26907000-26917400	Weak transcription	Gastric	stomach
15	chr4:26907200-26913400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:26907200-26914000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:26907200-26914400	Weak transcription	Lung	lung
18	chr4:26907200-26937800	Weak transcription	Stomach Mucosa	stomach
19	chr4:26908400-26914800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:26908800-26912000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:26909000-26911200	Enhancers	Brain Hippocampus Middle	brain
22	chr4:26909000-26911400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:26909000-26911600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:26909000-26915800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:26909400-26910600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:26909400-26910800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:26909400-26911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:26909400-26912400	Enhancers	Brain Substantia Nigra	brain
29	chr4:26909600-26911600	Enhancers	Brain Angular Gyrus	brain
30	chr4:26909600-26912000	Enhancers	Brain Anterior Caudate	brain
31	chr4:26909600-26912200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:26909600-26913200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:26909600-26916600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:26909600-26921400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:26909600-26923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:26909800-26910800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:26909800-26911600	Enhancers	HMEC	breast
38	chr4:26909800-26912000	Enhancers	Ovary	ovary
39	chr4:26909800-26912200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:26909800-26913000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:26909800-26913200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:26909800-26921400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:26910000-26910600	Enhancers	GM12878-XiMat	blood
44	chr4:26910000-26911000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:26910000-26911000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:26910000-26912400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:26910000-26913000	Weak transcription	Primary T cells from cord blood	blood
48	chr4:26910000-26914200	Weak transcription	Fetal Lung	lung
49	chr4:26910000-26915800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:26910000-26916200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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