Variant report

Variant	rs73850045
Chromosome Location	chr4:129862933-129862934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10518540	0.80[AFR][1000 genomes]
rs17013884	1.00[AMR][1000 genomes]
rs17013912	0.80[AFR][1000 genomes]
rs17013914	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013921	0.80[AFR][1000 genomes]
rs17013947	1.00[AMR][1000 genomes]
rs56117956	1.00[AMR][1000 genomes]
rs56133600	0.80[AFR][1000 genomes]
rs59417303	1.00[AMR][1000 genomes]
rs73850021	1.00[AMR][1000 genomes]
rs73850022	1.00[AMR][1000 genomes]
rs73850031	0.80[AFR][1000 genomes]
rs73850033	0.80[AFR][1000 genomes]
rs73850056	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS 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
15	nsv537250	chr4:129778025-129905116	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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
16	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
17	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
18	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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
23	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
24	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129821400-129867800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:129829800-129873000	Weak transcription	Brain Substantia Nigra	brain
4	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
5	chr4:129837600-129888200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:129839600-129882800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:129839800-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:129840600-129863400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:129841000-129907400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:129842200-129863400	Weak transcription	Fetal Lung	lung
12	chr4:129843600-129888000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:129844800-129867200	Weak transcription	Left Ventricle	heart
14	chr4:129845000-129882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:129845400-129907400	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:129845800-129907200	Weak transcription	Ovary	ovary
17	chr4:129846200-129863000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:129846200-129863400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:129847600-129863200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:129847800-129863000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:129847800-129863000	Weak transcription	NH-A	brain
22	chr4:129847800-129863600	Weak transcription	Primary T cells from cord blood	blood
23	chr4:129847800-129895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:129848800-129867600	Weak transcription	Fetal Stomach	stomach
25	chr4:129849000-129863400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:129849600-129863400	Weak transcription	Adipose Nuclei	Adipose
27	chr4:129850600-129869600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:129851000-129863000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:129851000-129879000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:129851600-129863000	Weak transcription	Psoas Muscle	Psoas
31	chr4:129851600-129863600	Weak transcription	NHDF-Ad	bronchial
32	chr4:129851600-129867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:129854600-129870000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:129855200-129907800	Weak transcription	K562	blood
35	chr4:129855400-129871400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:129855400-129895200	Weak transcription	Fetal Kidney	kidney
37	chr4:129856200-129863200	Weak transcription	HUVEC	blood vessel
38	chr4:129856400-129867800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:129856400-129907200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:129857000-129863400	Weak transcription	Primary B cells from cord blood	blood
41	chr4:129858000-129863400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:129858600-129891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:129858800-129863400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:129858800-129870600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:129859000-129863000	Weak transcription	HMEC	breast
46	chr4:129859200-129863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:129859600-129863200	Weak transcription	NHLF	lung
48	chr4:129859600-129865600	Weak transcription	Brain Angular Gyrus	brain
49	chr4:129859600-129868600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:129859800-129864400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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