Variant report

Variant	rs2850991
Chromosome Location	chr4:102117323-102117324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1021965	0.85[ASN][1000 genomes]
rs1354785	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395476	0.85[ASN][1000 genomes]
rs1506799	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506800	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506802	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506803	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506804	0.85[ASN][1000 genomes]
rs1543856	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030851	0.81[ASN][1000 genomes]
rs2135610	0.85[ASN][1000 genomes]
rs2135614	0.80[ASN][1000 genomes]
rs2174683	0.80[ASN][1000 genomes]
rs2659503	0.85[ASN][1000 genomes]
rs2659504	0.85[ASN][1000 genomes]
rs2659505	0.85[ASN][1000 genomes]
rs2659506	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2659508	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2659509	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659511	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659532	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2659533	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659534	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659537	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659538	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659539	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659542	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2850980	0.85[ASN][1000 genomes]
rs2850981	0.85[ASN][1000 genomes]
rs2850982	0.85[ASN][1000 genomes]
rs2850985	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850987	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850990	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2850994	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2850995	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3804366	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4478191	0.82[ASN][1000 genomes]
rs73833252	0.83[ASN][1000 genomes]
rs931871	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102098600-102118600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:102104400-102119400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:102104400-102119600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:102104400-102119600	Weak transcription	Ovary	ovary
5	chr4:102105400-102117800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:102105400-102126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:102106200-102117600	Weak transcription	Gastric	stomach
8	chr4:102106200-102121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:102107600-102126600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:102109200-102126200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:102109600-102118000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:102109600-102119400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:102109800-102122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:102110000-102118000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:102111200-102122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:102111800-102119600	Weak transcription	Fetal Brain Female	brain
17	chr4:102112800-102117800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:102113000-102118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:102113200-102118600	Weak transcription	Lung	lung
20	chr4:102113200-102119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:102113200-102119800	Weak transcription	Fetal Brain Male	brain
22	chr4:102113200-102121000	Weak transcription	HSMM	muscle
23	chr4:102113200-102122400	Weak transcription	Aorta	Aorta
24	chr4:102113200-102124400	Weak transcription	Pancreas	Pancrea
25	chr4:102113400-102120400	Weak transcription	Fetal Heart	heart
26	chr4:102113400-102120800	Weak transcription	NH-A	brain
27	chr4:102113600-102119400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:102113600-102119600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:102113600-102119600	Weak transcription	Brain Angular Gyrus	brain
30	chr4:102113600-102120600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:102113600-102120800	Weak transcription	Right Ventricle	heart
32	chr4:102113600-102121400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:102113600-102122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:102113800-102117600	Weak transcription	Psoas Muscle	Psoas
35	chr4:102113800-102117600	Weak transcription	Stomach Mucosa	stomach
36	chr4:102113800-102117800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:102113800-102118000	Weak transcription	Small Intestine	intestine
38	chr4:102113800-102118200	Weak transcription	Left Ventricle	heart
39	chr4:102113800-102118400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:102113800-102118600	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:102113800-102119600	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:102113800-102119600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:102113800-102119600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:102113800-102119600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:102113800-102119800	Weak transcription	Fetal Kidney	kidney
46	chr4:102113800-102120400	Weak transcription	Brain Substantia Nigra	brain
47	chr4:102113800-102120600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:102113800-102120800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:102113800-102121000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:102113800-102121000	Weak transcription	HMEC	breast

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