Variant report

Variant	rs72924160
Chromosome Location	chr4:129937999-129938000
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	chr4:129937036..129939500-chr4:129965984..129968152,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs56765848	1.00[AFR][1000 genomes]
rs58051833	1.00[AFR][1000 genomes]
rs59285303	1.00[AFR][1000 genomes]
rs59715472	1.00[AFR][1000 genomes]
rs61702015	1.00[AFR][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]
rs72922078	1.00[AFR][1000 genomes]
rs72922083	1.00[AFR][1000 genomes]
rs72922086	1.00[AFR][1000 genomes]
rs72922093	1.00[AFR][1000 genomes]
rs72922097	1.00[AFR][1000 genomes]
rs72922099	1.00[AFR][1000 genomes]
rs72922102	1.00[AFR][1000 genomes]
rs72924103	1.00[AFR][1000 genomes]
rs72924109	1.00[AFR][1000 genomes]
rs72924111	1.00[AFR][1000 genomes]
rs72924115	1.00[AFR][1000 genomes]
rs72924122	1.00[AFR][1000 genomes]
rs72924130	0.81[AFR][1000 genomes]
rs72924138	1.00[AFR][1000 genomes]
rs72924154	1.00[AFR][1000 genomes]
rs72924157	1.00[AFR][1000 genomes]
rs72924167	1.00[AFR][1000 genomes]
rs72924180	1.00[AFR][1000 genomes]
rs72924185	1.00[AFR][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]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129917400-129942400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:129932000-129944000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:129932200-129947000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:129933200-129942200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:129933400-129942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:129933400-129942000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:129934000-129942400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:129934200-129942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:129934200-129944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:129934600-129944200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:129934600-129944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:129935000-129942200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:129935600-129943400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:129935800-129943800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:129935800-129944400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:129936000-129943400	Weak transcription	Fetal Heart	heart
17	chr4:129936200-129942000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:129936600-129942200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:129936600-129942200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:129936600-129942600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:129936800-129939000	Weak transcription	A549	lung
22	chr4:129936800-129941600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:129936800-129942200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:129936800-129942200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:129936800-129942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:129936800-129942200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:129936800-129942200	Weak transcription	Dnd41	blood
28	chr4:129936800-129942800	Weak transcription	Placenta	Placenta
29	chr4:129936800-129943800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:129936800-129944000	Weak transcription	NHLF	lung
31	chr4:129937000-129938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:129937000-129939200	Weak transcription	Aorta	Aorta
33	chr4:129937000-129939200	Weak transcription	Lung	lung
34	chr4:129937000-129941400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:129937000-129941400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:129937000-129941400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:129937000-129941400	Weak transcription	Fetal Thymus	thymus
38	chr4:129937000-129941600	Weak transcription	Ovary	ovary
39	chr4:129937000-129942000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:129937000-129942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:129937000-129942000	Weak transcription	Right Ventricle	heart
42	chr4:129937000-129942200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:129937000-129942200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:129937000-129942200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:129937000-129942200	Weak transcription	Esophagus	oesophagus
46	chr4:129937000-129942200	Weak transcription	Pancreas	Pancrea
47	chr4:129937000-129942200	Weak transcription	Thymus	Thymus
48	chr4:129937000-129942200	Weak transcription	Spleen	Spleen
49	chr4:129937000-129942400	Weak transcription	Liver	Liver
50	chr4:129937000-129942600	Weak transcription	Duodenum Mucosa	Duodenum

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