Variant report

Variant	rs72678519
Chromosome Location	chr4:120473204-120473205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120451722..120454309-chr4:120472350..120475109,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35657715	1.00[AFR][1000 genomes]
rs72678515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
2	chr4:120420200-120485400	Weak transcription	Fetal Brain Male	brain
3	chr4:120434600-120474400	Weak transcription	Gastric	stomach
4	chr4:120435000-120487600	Weak transcription	Colonic Mucosa	Colon
5	chr4:120436200-120473800	Weak transcription	Fetal Brain Female	brain
6	chr4:120436800-120474000	Weak transcription	Thymus	Thymus
7	chr4:120437600-120474200	Weak transcription	Brain Substantia Nigra	brain
8	chr4:120437800-120479200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:120438200-120484800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:120439400-120474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:120440000-120474000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:120440600-120478200	Weak transcription	Primary B cells from cord blood	blood
13	chr4:120441200-120476200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:120442200-120474200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:120442800-120484600	Weak transcription	Psoas Muscle	Psoas
16	chr4:120447400-120484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:120448000-120484800	Weak transcription	Fetal Heart	heart
18	chr4:120449400-120473600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:120451600-120485200	Weak transcription	Brain Angular Gyrus	brain
20	chr4:120455600-120483800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:120456200-120488800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:120456400-120484400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:120456400-120484800	Weak transcription	Liver	Liver
24	chr4:120456600-120473800	Weak transcription	Fetal Thymus	thymus
25	chr4:120456600-120484600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:120456600-120484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:120458200-120484600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:120459400-120485400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:120459400-120491600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:120459600-120474200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:120460200-120474200	Weak transcription	Fetal Kidney	kidney
32	chr4:120463200-120484800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:120463200-120485600	Weak transcription	Ovary	ovary
34	chr4:120463600-120481200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:120463800-120484800	Weak transcription	Left Ventricle	heart
36	chr4:120463800-120485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:120463800-120485400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:120464000-120482600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:120465000-120481000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:120465000-120489600	Weak transcription	Lung	lung
41	chr4:120465200-120477400	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:120465400-120477200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:120470200-120479400	Strong transcription	Osteobl	bone
44	chr4:120470400-120480800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:120471600-120473400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr4:120471600-120473800	Strong transcription	Placenta	Placenta
47	chr4:120471600-120485200	Weak transcription	HMEC	breast
48	chr4:120471800-120474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:120472000-120484600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:120472400-120476000	Weak transcription	Fetal Stomach	stomach

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