Variant report

Variant	rs73847341
Chromosome Location	chr4:129908326-129908327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129902026..129904676-chr4:129907660..129909341,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs55707740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55753141	1.00[AMR][1000 genomes]
rs55764329	0.91[AFR][1000 genomes]
rs55955516	1.00[AFR][1000 genomes]
rs56002856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56017737	1.00[AMR][1000 genomes]
rs56069250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56721576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57243721	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57542268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57925170	1.00[AMR][1000 genomes]
rs58053026	0.91[AFR][1000 genomes]
rs58701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60227965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61267810	1.00[AFR][1000 genomes]
rs61700015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846989	1.00[AMR][1000 genomes]
rs73846992	1.00[AMR][1000 genomes]
rs73846993	1.00[AMR][1000 genomes]
rs73846994	1.00[AMR][1000 genomes]
rs73846999	1.00[AMR][1000 genomes]
rs73847304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847305	1.00[AFR][1000 genomes]
rs73847307	0.83[AFR][1000 genomes]
rs73847310	0.91[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847356	0.91[AFR][1000 genomes]
rs73847358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847383	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847391	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847398	0.83[AFR][1000 genomes]
rs73847399	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848934	1.00[AFR][1000 genomes]
rs73850005	1.00[AMR][1000 genomes]
rs73850009	1.00[AMR][1000 genomes]
rs73850010	1.00[AMR][1000 genomes]
rs73850011	1.00[AMR][1000 genomes]
rs73850012	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850013	1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850062	0.91[AFR][1000 genomes]
rs73850063	0.91[AFR][1000 genomes]
rs73850064	0.91[AFR][1000 genomes];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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129862400-129924200	Weak transcription	Colonic Mucosa	Colon
2	chr4:129864000-129918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:129866600-129916600	Weak transcription	Right Ventricle	heart
4	chr4:129866800-129916200	Weak transcription	Hela-S3	cervix
5	chr4:129868200-129935600	Weak transcription	HSMM	muscle
6	chr4:129878400-129925600	Weak transcription	HSMMtube	muscle
7	chr4:129883200-129923400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:129883400-129912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:129884800-129909200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:129887000-129918800	Weak transcription	Psoas Muscle	Psoas
11	chr4:129887800-129918000	Weak transcription	Fetal Heart	heart
12	chr4:129895600-129916800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:129895800-129910400	Weak transcription	NHLF	lung
14	chr4:129901200-129918000	Weak transcription	HUVEC	blood vessel
15	chr4:129901800-129918600	Weak transcription	NHDF-Ad	bronchial
16	chr4:129901800-129920600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:129901800-129921200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:129902000-129911600	Weak transcription	Osteobl	bone
19	chr4:129902400-129912600	Weak transcription	HMEC	breast
20	chr4:129902400-129922400	Weak transcription	NH-A	brain
21	chr4:129903000-129910000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:129903200-129920600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr4:129904600-129909800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:129905000-129917800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:129906200-129909200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:129906200-129935800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:129906400-129917400	Weak transcription	Stomach Mucosa	stomach
28	chr4:129906600-129908600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr4:129906600-129912400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr4:129906800-129909200	Strong transcription	Primary T cells from cord blood	blood
31	chr4:129906800-129909200	Weak transcription	Brain Angular Gyrus	brain
32	chr4:129907000-129908400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:129907000-129908400	Strong transcription	Fetal Thymus	thymus
34	chr4:129907200-129908400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:129907200-129908400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:129907200-129908400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:129907200-129908400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr4:129907200-129908400	Strong transcription	Fetal Intestine Large	intestine
39	chr4:129907200-129908400	Enhancers	Placenta	Placenta
40	chr4:129907200-129908400	Strong transcription	Gastric	stomach
41	chr4:129907200-129908400	Strong transcription	Pancreas	Pancrea
42	chr4:129907200-129908400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:129907200-129908400	Strong transcription	Thymus	Thymus
44	chr4:129907200-129908600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:129907200-129908600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr4:129907200-129908600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:129907200-129908600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr4:129907200-129908600	Strong transcription	Dnd41	blood
49	chr4:129907200-129908800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:129907200-129909000	Strong transcription	Adipose Nuclei	Adipose

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