Variant report

Variant	rs72688760
Chromosome Location	chr4:130281557-130281558
allele	A/G
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:13)

rs_ID	r²[population]
rs4428301	1.00[EUR][1000 genomes]
rs72672105	1.00[EUR][1000 genomes]
rs72672112	1.00[EUR][1000 genomes]
rs72672119	1.00[EUR][1000 genomes]
rs72672120	1.00[EUR][1000 genomes]
rs72672122	0.82[EUR][1000 genomes]
rs72688714	0.89[EUR][1000 genomes]
rs72688761	1.00[EUR][1000 genomes]
rs72688762	1.00[EUR][1000 genomes]
rs72688764	1.00[EUR][1000 genomes]
rs72688766	0.90[EUR][1000 genomes]
rs72688767	0.82[EUR][1000 genomes]
rs72688769	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1805721	chr4:130277165-130282466	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
4	esv1811943	chr4:130277165-130282466	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	esv3466210	chr4:130278902-130283300	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	esv2455446	chr4:130280075-130283664	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3466206	chr4:130280102-130284500	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1963016	chr4:130280643-130283132	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3466209	chr4:130280697-130283027	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv3466204	chr4:130280753-130283010	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3466207	chr4:130280761-130283005	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
12	esv3466203	chr4:130280766-130282961	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
13	esv3466205	chr4:130280817-130282941	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
14	nsv290744	chr4:130280831-130282936	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv3466211	chr4:130280831-130282939	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
16	esv20923	chr4:130280835-130282934	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv1809082	chr4:130280857-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
18	esv1809474	chr4:130280857-130282466	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv1810996	chr4:130280857-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
20	esv1811580	chr4:130280857-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
21	esv1812300	chr4:130280857-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
22	esv1812328	chr4:130280857-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
23	esv1813240	chr4:130280857-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
24	esv1813296	chr4:130280857-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
25	esv1807855	chr4:130281352-130282466	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
26	esv1811244	chr4:130281352-130282466	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130277200-130284000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:130277600-130284200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:130279000-130281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:130279200-130281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:130280400-130283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:130280400-130283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:130280400-130283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:130280400-130283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:130280400-130283800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:130280400-130283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:130280400-130283800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:130280400-130283800	Weak transcription	HUVEC	blood vessel
13	chr4:130280400-130284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:130280400-130284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:130280400-130284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:130280400-130284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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