Variant report

Variant	rs80302802
Chromosome Location	chr4:49093824-49093825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv2757057	chr4:49049101-49628914	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2759251	chr4:49049101-49660117	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1012915	chr4:49052210-49297223	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1007703	chr4:49052210-49658600	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv594138	chr4:49053522-49094607	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2757934	chr4:49057410-49660117	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv428442	chr4:49057410-49660117	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1001526	chr4:49057815-49154757	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1002272	chr4:49081001-49309842	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1003616	chr4:49081001-49579167	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1004427	chr4:49081001-49658211	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	nsv1004834	chr4:49081001-49658600	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	nsv1002330	chr4:49085141-49561973	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv1010304	chr4:49085141-49590590	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv998913	chr4:49085141-49620873	Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	esv3584802	chr4:49089374-49658612	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
20	esv3335041	chr4:49092195-49206893	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv3375539	chr4:49092195-49206893	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv3386579	chr4:49092195-49207393	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv3332716	chr4:49092195-49338941	ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	esv3350648	chr4:49092195-49338941	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv3394480	chr4:49092195-49338941	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv820500	chr4:49092778-49169783	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv12520	chr4:49093222-49158949	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv7435	chr4:49093252-49098543	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
29	esv6077	chr4:49093345-49094288	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
30	nsv1011733	chr4:49093774-49590590	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
31	nsv1011641	chr4:49093774-49620873	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
32	nsv1006629	chr4:49093774-49650094	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
33	nsv1005266	chr4:49093774-49656501	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
34	nsv1010515	chr4:49093774-49658600	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
35	esv8766	chr4:49093782-49101405	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
36	esv2760850	chr4:49093786-49309854	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
37	esv2763793	chr4:49093786-49309854	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49093000-49095200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr4:49093200-49094000	ZNF genes & repeats	Hela-S3	cervix
3	chr4:49093200-49094200	Flanking Bivalent TSS/Enh	Gastric	stomach
4	chr4:49093200-49094600	ZNF genes & repeats	HSMMtube	muscle
5	chr4:49093200-49094600	ZNF genes & repeats	NHEK	skin
6	chr4:49093200-49094800	ZNF genes & repeats	HMEC	breast
7	chr4:49093200-49095000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr4:49093200-49095000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
9	chr4:49093200-49095000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr4:49093200-49095000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr4:49093200-49095000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr4:49093200-49095000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
13	chr4:49093200-49095000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr4:49093200-49095000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr4:49093200-49095000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:49093200-49095000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:49093200-49095000	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr4:49093200-49095000	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr4:49093200-49095000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:49093200-49095000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr4:49093200-49095000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr4:49093200-49095000	ZNF genes & repeats	Placenta	Placenta
23	chr4:49093200-49095000	ZNF genes & repeats	Fetal Stomach	stomach
24	chr4:49093200-49095000	ZNF genes & repeats	Pancreas	Pancrea
25	chr4:49093200-49095000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr4:49093200-49095000	ZNF genes & repeats	Small Intestine	intestine
27	chr4:49093200-49095000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr4:49093200-49095000	ZNF genes & repeats	Dnd41	blood
29	chr4:49093200-49095000	ZNF genes & repeats	HUVEC	blood vessel
30	chr4:49093200-49095000	ZNF genes & repeats	K562	blood
31	chr4:49093200-49095000	ZNF genes & repeats	NHDF-Ad	bronchial
32	chr4:49093200-49095200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:49093200-49095200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:49093200-49095200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr4:49093200-49095200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr4:49093200-49095200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr4:49093200-49095200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr4:49093200-49095200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:49093200-49095200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:49093200-49095200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:49093200-49095200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:49093200-49095200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:49093200-49095200	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr4:49093200-49095200	ZNF genes & repeats	Primary T cells from cord blood	blood

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