Variant report

Variant	rs72922078
Chromosome Location	chr4:129907412-129907413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs56765848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58051833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59285303	1.00[AFR][1000 genomes]
rs59715472	1.00[AFR][1000 genomes]
rs61702015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922050	1.00[AFR][1000 genomes]
rs72922052	1.00[AFR][1000 genomes]
rs72922062	1.00[AFR][1000 genomes]
rs72922075	1.00[AFR][1000 genomes]
rs72922083	1.00[AFR][1000 genomes]
rs72922086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922097	1.00[AFR][1000 genomes]
rs72922099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922102	1.00[AFR][1000 genomes]
rs72924103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924109	1.00[AFR][1000 genomes]
rs72924111	1.00[AFR][1000 genomes]
rs72924115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924122	1.00[AFR][1000 genomes]
rs72924124	1.00[AMR][1000 genomes]
rs72924130	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924154	1.00[AFR][1000 genomes]
rs72924157	1.00[AFR][1000 genomes]
rs72924160	1.00[AFR][1000 genomes]
rs72924167	1.00[AFR][1000 genomes]
rs72924180	1.00[AFR][1000 genomes]
rs72924185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926010	1.00[AFR][1000 genomes]
rs72926011	1.00[AFR][1000 genomes]
rs72926013	1.00[AFR][1000 genomes]
rs72926017	1.00[AFR][1000 genomes]
rs72926020	1.00[AFR][1000 genomes]
rs72926029	1.00[AFR][1000 genomes]
rs72926030	1.00[AFR][1000 genomes]
rs72926036	1.00[AFR][1000 genomes]
rs72926056	1.00[AFR][1000 genomes]
rs72926071	1.00[AFR][1000 genomes]
rs72926072	1.00[AFR][1000 genomes]
rs72926087	1.00[AFR][1000 genomes]
rs72926090	1.00[AFR][1000 genomes]
rs72927922	0.81[AFR][1000 genomes]
rs72927928	0.90[AFR][1000 genomes]
rs72927936	0.90[AFR][1000 genomes]
rs72930000	1.00[AMR][1000 genomes]
rs72931933	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1026722	chr4:129801602-129929219	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv537252	chr4:129801602-129929219	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv595399	chr4:129835649-129924852	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1020327	chr4:129859624-129914665	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:129855200-129907800	Weak transcription	K562	blood
3	chr4:129862400-129924200	Weak transcription	Colonic Mucosa	Colon
4	chr4:129864000-129918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:129866400-129907600	Weak transcription	Small Intestine	intestine
6	chr4:129866600-129916600	Weak transcription	Right Ventricle	heart
7	chr4:129866800-129916200	Weak transcription	Hela-S3	cervix
8	chr4:129868200-129935600	Weak transcription	HSMM	muscle
9	chr4:129871600-129907600	Weak transcription	Liver	Liver
10	chr4:129878400-129925600	Weak transcription	HSMMtube	muscle
11	chr4:129883200-129923400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:129883400-129907600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:129883400-129912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:129883800-129907600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:129884800-129909200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:129887000-129918800	Weak transcription	Psoas Muscle	Psoas
17	chr4:129887800-129918000	Weak transcription	Fetal Heart	heart
18	chr4:129889400-129907600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:129890200-129907600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:129895600-129916800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:129895800-129907600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:129895800-129907800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:129895800-129910400	Weak transcription	NHLF	lung
24	chr4:129901200-129918000	Weak transcription	HUVEC	blood vessel
25	chr4:129901800-129907800	Weak transcription	A549	lung
26	chr4:129901800-129918600	Weak transcription	NHDF-Ad	bronchial
27	chr4:129901800-129920600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:129901800-129921200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:129902000-129911600	Weak transcription	Osteobl	bone
30	chr4:129902400-129912600	Weak transcription	HMEC	breast
31	chr4:129902400-129922400	Weak transcription	NH-A	brain
32	chr4:129903000-129910000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:129903200-129920600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr4:129904600-129909800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:129905000-129917800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:129906200-129907600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:129906200-129909200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:129906200-129935800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:129906400-129917400	Weak transcription	Stomach Mucosa	stomach
40	chr4:129906600-129908600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr4:129906600-129912400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr4:129906800-129909200	Strong transcription	Primary T cells from cord blood	blood
43	chr4:129906800-129909200	Weak transcription	Brain Angular Gyrus	brain
44	chr4:129907000-129908200	Strong transcription	NHEK	skin
45	chr4:129907000-129908400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:129907000-129908400	Strong transcription	Fetal Thymus	thymus
47	chr4:129907200-129907600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:129907200-129907600	Strong transcription	Brain Anterior Caudate	brain
49	chr4:129907200-129908200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:129907200-129908200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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