Variant report

Variant	rs543601375
Chromosome Location	chr4:8622982-8622983
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	chr4:8472717..8474725-chr4:8621251..8624026,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv878614	chr4:8554894-8669619	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv878615	chr4:8566758-8625245	Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv878616	chr4:8566758-8669619	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv878617	chr4:8566758-9371116	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv1014219	chr4:8578779-8724531	Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv878618	chr4:8579758-8641696	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv878619	chr4:8579758-8669619	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv878620	chr4:8584879-8674871	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv470015	chr4:8584879-8729638	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv878621	chr4:8584879-9371116	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
14	nsv878622	chr4:8599250-9371116	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv829855	chr4:8604879-8729607	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv915590	chr4:8607839-9558139	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
17	nsv521867	chr4:8608066-8641696	Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv4226	chr4:8616527-8656282	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1804573	chr4:8618253-8648611	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1807312	chr4:8618453-8648411	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1822981	chr4:8618453-8648411	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1792139	chr4:8619465-9407085	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
23	esv3467549	chr4:8620052-8640450	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3467550	chr4:8620052-8640450	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3349271	chr4:8620852-8639650	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3440914	chr4:8620852-8639950	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1812274	chr4:8621252-8639187	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1821058	chr4:8621252-9370511	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
29	esv1801399	chr4:8621452-8638987	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1823727	chr4:8621452-8639758	Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv10442	chr4:8621480-8641280	Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv821439	chr4:8621975-8639072	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv16853	chr4:8622050-8638959	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1821932	chr4:8622394-8637933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1799411	chr4:8622394-8638382	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1802527	chr4:8622394-8638382	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1824514	chr4:8622394-8638382	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1826345	chr4:8622394-8638382	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1844182	chr4:8622394-8638382	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1832415	chr4:8622394-8639187	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1849294	chr4:8622394-8639958	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1792999	chr4:8622394-9370511	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
43	esv1819636	chr4:8622394-9370511	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
44	esv1829855	chr4:8622394-9370511	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
45	esv1845492	chr4:8622394-9370511	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
46	esv1791864	chr4:8622594-8640459	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	esv1823127	chr4:8622594-8640459	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv3415644	chr4:8622752-8639450	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv593641	chr4:8622979-8636723	Weak transcription	Chromatin interactive region	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	chr4:8596000-8623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:8616600-8623000	Weak transcription	Osteobl	bone
6	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
7	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
15	chr4:8622000-8623800	Weak transcription	Ovary	ovary
16	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion

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