Variant report

Variant	rs537080370
Chromosome Location	chr8:58122242-58122243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:58122191..58122786-chr8:58255142..58256110,2	K562	blood:
2	chr8:58116966..58119487-chr8:58121967..58124287,2	MCF-7	breast:
3	chr8:58116442..58118477-chr8:58121162..58123026,3	K562	blood:
4	chr8:58121826..58122902-chr8:58255580..58256503,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253871	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3693378	chr8:58051501-58128557	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3432915	chr8:58055026-58271178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1793550	chr8:58063507-58215957	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1804272	chr8:58063507-58215957	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1814738	chr8:58063507-58215957	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv428200	chr8:58063507-58215957	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1834359	chr8:58077247-58127527	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1837249	chr8:58077247-58130784	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1034068	chr8:58078547-58161439	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1028917	chr8:58080796-58158408	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv10908	chr8:58085198-58134668	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv831321	chr8:58086885-58237744	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv1816189	chr8:58093977-58126589	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1800867	chr8:58104763-58148292	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv1846255	chr8:58106529-58127901	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv824637	chr8:58108164-58138395	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1813223	chr8:58108686-58130419	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv8351	chr8:58111632-58138437	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv1819941	chr8:58112982-58128101	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv1844532	chr8:58112982-58128101	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv1826796	chr8:58113182-58127901	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv1797739	chr8:58113182-58129060	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	esv1803035	chr8:58113182-58130419	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv1829572	chr8:58113182-58130419	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	esv1804436	chr8:58113182-58141141	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	nsv824638	chr8:58114364-58129252	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv824639	chr8:58114393-58129252	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	esv1800158	chr8:58114409-58128101	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	esv1805782	chr8:58114409-58128101	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	esv1816315	chr8:58114409-58128101	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	esv1833298	chr8:58114409-58128101	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
36	esv1848733	chr8:58114409-58129209	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
37	nsv824640	chr8:58114469-58129031	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	esv1799939	chr8:58114548-58127901	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
39	esv1818502	chr8:58114548-58127901	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
40	esv1806240	chr8:58114548-58129060	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	esv1807161	chr8:58114548-58129060	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
42	esv1849557	chr8:58114548-58129060	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
43	esv1847325	chr8:58114548-58134036	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
44	nsv972527	chr8:58114741-58139696	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
45	esv1841907	chr8:58114743-58127527	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
46	esv1835597	chr8:58114743-58130784	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
47	esv1791775	chr8:58114756-58128101	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
48	esv1807104	chr8:58114756-58128101	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
49	esv1825622	chr8:58114756-58128101	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
50	nsv824641	chr8:58114758-58127702	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58120200-58123400	ZNF genes & repeats	Brain Germinal Matrix	brain
2	chr8:58122000-58123200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:58122000-58123200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr8:58122000-58123200	ZNF genes & repeats	Fetal Brain Female	brain
5	chr8:58122000-58123200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
6	chr8:58122000-58123400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:58122000-58123400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:58122000-58123400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr8:58122000-58123400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:58122000-58123400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:58122200-58122400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr8:58122200-58122600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
13	chr8:58122200-58122800	ZNF genes & repeats	Brain Angular Gyrus	brain
14	chr8:58122200-58122800	ZNF genes & repeats	Fetal Heart	heart
15	chr8:58122200-58123000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr8:58122200-58123000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:58122200-58123000	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr8:58122200-58123000	ZNF genes & repeats	Aorta	Aorta
19	chr8:58122200-58123000	ZNF genes & repeats	Brain Anterior Caudate	brain
20	chr8:58122200-58123000	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr8:58122200-58123000	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr8:58122200-58123000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr8:58122200-58123000	ZNF genes & repeats	Fetal Lung	lung
24	chr8:58122200-58123000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr8:58122200-58123000	ZNF genes & repeats	Ovary	ovary
26	chr8:58122200-58123000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
27	chr8:58122200-58123000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr8:58122200-58123000	ZNF genes & repeats	Right Atrium	heart
29	chr8:58122200-58123000	ZNF genes & repeats	Right Ventricle	heart
30	chr8:58122200-58123000	ZNF genes & repeats	Stomach Mucosa	stomach
31	chr8:58122200-58123000	ZNF genes & repeats	NHDF-Ad	bronchial
32	chr8:58122200-58123200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:58122200-58123200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr8:58122200-58123200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:58122200-58123200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:58122200-58123200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
37	chr8:58122200-58123200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:58122200-58123200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:58122200-58123200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:58122200-58123200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr8:58122200-58123200	ZNF genes & repeats	Fetal Brain Male	brain
42	chr8:58122200-58123200	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr8:58122200-58123200	ZNF genes & repeats	Gastric	stomach
44	chr8:58122200-58123200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
45	chr8:58122200-58123200	ZNF genes & repeats	NHLF	lung
46	chr8:58122200-58123400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr8:58122200-58123400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:58122200-58123400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr8:58122200-58123400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr8:58122200-58123400	ZNF genes & repeats	Esophagus	oesophagus

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