Variant report

Variant	rs58795784
Chromosome Location	chr4:129907344-129907345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17013989	1.00[AFR][1000 genomes]
rs17013991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17014019	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17014068	1.00[AMR][1000 genomes]
rs34546934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35429448	1.00[AMR][1000 genomes]
rs56865981	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60781503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847343	0.89[AFR][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
2	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:129841000-129907400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:129845400-129907400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:129855200-129907800	Weak transcription	K562	blood
6	chr4:129862400-129924200	Weak transcription	Colonic Mucosa	Colon
7	chr4:129864000-129918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:129866400-129907600	Weak transcription	Small Intestine	intestine
9	chr4:129866600-129916600	Weak transcription	Right Ventricle	heart
10	chr4:129866800-129916200	Weak transcription	Hela-S3	cervix
11	chr4:129867000-129907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:129868200-129935600	Weak transcription	HSMM	muscle
13	chr4:129868600-129907400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:129871600-129907600	Weak transcription	Liver	Liver
15	chr4:129878400-129925600	Weak transcription	HSMMtube	muscle
16	chr4:129878600-129907400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:129883200-129923400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:129883400-129907600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:129883400-129912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:129883800-129907600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:129884800-129909200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:129887000-129918800	Weak transcription	Psoas Muscle	Psoas
23	chr4:129887800-129918000	Weak transcription	Fetal Heart	heart
24	chr4:129888800-129907400	Weak transcription	Left Ventricle	heart
25	chr4:129889400-129907600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:129890200-129907400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:129890200-129907600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:129890400-129907400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:129895600-129907400	Weak transcription	Spleen	Spleen
30	chr4:129895600-129916800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:129895800-129907400	Weak transcription	Fetal Intestine Small	intestine
32	chr4:129895800-129907400	Weak transcription	Fetal Lung	lung
33	chr4:129895800-129907400	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:129895800-129907600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:129895800-129907800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:129895800-129910400	Weak transcription	NHLF	lung
37	chr4:129898600-129907400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:129901200-129918000	Weak transcription	HUVEC	blood vessel
39	chr4:129901800-129907800	Weak transcription	A549	lung
40	chr4:129901800-129918600	Weak transcription	NHDF-Ad	bronchial
41	chr4:129901800-129920600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:129901800-129921200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:129902000-129911600	Weak transcription	Osteobl	bone
44	chr4:129902400-129912600	Weak transcription	HMEC	breast
45	chr4:129902400-129922400	Weak transcription	NH-A	brain
46	chr4:129902600-129907400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:129903000-129910000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:129903200-129920600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr4:129904200-129907400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:129904400-129907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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