Variant report

Variant	rs72715951
Chromosome Location	chr4:186520587-186520588
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186518910..186520718-chr4:186522400..186524531,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59513672	1.00[ASN][1000 genomes]
rs72702058	1.00[ASN][1000 genomes]
rs72702070	1.00[ASN][1000 genomes]
rs72702080	1.00[ASN][1000 genomes]
rs72702082	1.00[ASN][1000 genomes]
rs72702088	1.00[ASN][1000 genomes]
rs72702092	1.00[ASN][1000 genomes]
rs72702095	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026526	chr4:186003951-186520882	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv881506	chr4:186309757-186531693	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv527026	chr4:186325429-186553480	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv517035	chr4:186366315-186522043	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1028694	chr4:186367742-186522953	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1018569	chr4:186371205-186526185	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers 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
7	nsv596373	chr4:186372826-186526185	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1033356	chr4:186378601-186520882	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv537418	chr4:186378601-186520882	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1023437	chr4:186378601-186532806	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186495400-186548000	Weak transcription	Esophagus	oesophagus
2	chr4:186498400-186534000	Weak transcription	Spleen	Spleen
3	chr4:186509000-186527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:186509000-186576400	Weak transcription	Brain Angular Gyrus	brain
5	chr4:186509200-186522200	Weak transcription	Brain Germinal Matrix	brain
6	chr4:186509200-186522400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:186509200-186527600	Weak transcription	Placenta	Placenta
8	chr4:186509200-186528200	Weak transcription	Lung	lung
9	chr4:186509400-186564200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:186511200-186520800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:186511200-186532200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:186513000-186520800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:186513000-186521000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:186513000-186536200	Weak transcription	Right Atrium	heart
15	chr4:186513400-186522200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:186513400-186527600	Weak transcription	HepG2	liver
17	chr4:186514400-186520600	Weak transcription	Aorta	Aorta
18	chr4:186514400-186520800	Weak transcription	Left Ventricle	heart
19	chr4:186514400-186526400	Weak transcription	Pancreas	Pancrea
20	chr4:186514400-186535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:186514400-186540200	Weak transcription	Ovary	ovary
22	chr4:186515000-186534000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:186515200-186522200	Weak transcription	Liver	Liver
24	chr4:186518000-186524000	Genic enhancers	Fetal Heart	heart
25	chr4:186518200-186521400	Enhancers	Rectal Smooth Muscle	rectum
26	chr4:186518400-186521200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:186518600-186520600	Enhancers	Fetal Brain Female	brain
28	chr4:186518600-186521400	Enhancers	Fetal Stomach	stomach
29	chr4:186518800-186520800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:186519000-186521400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:186519000-186529800	Weak transcription	Osteobl	bone
32	chr4:186519000-186549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:186519000-186577600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:186519200-186544000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:186519200-186545800	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:186519200-186561000	Weak transcription	Fetal Kidney	kidney
37	chr4:186519400-186522400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:186519400-186523800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:186519600-186522200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:186519600-186522200	Weak transcription	HSMMtube	muscle
41	chr4:186520000-186521200	Enhancers	Brain Anterior Caudate	brain
42	chr4:186520000-186521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:186520200-186520600	Weak transcription	Right Ventricle	heart
44	chr4:186520200-186521200	Enhancers	Fetal Brain Male	brain
45	chr4:186520200-186522200	Enhancers	Stomach Smooth Muscle	stomach
46	chr4:186520400-186520600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:186520400-186520600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:186520400-186520800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:186520400-186520800	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:186520400-186521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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