Variant report

Variant	rs587674921
Chromosome Location	chr1:144841285-144841286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:144841280-144841430	NHEK	skin:	n/a	n/a
2	CTCF	chr1:144841180-144841330	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr1:144841240-144841390	HEK293	kidney:	n/a	n/a
4	CTCF	chr1:144841220-144841370	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:144841007-144841312	K562	blood:	n/a	n/a
6	CTCF	chr1:144841180-144841330	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PDE4DIP	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006330	chr1:144007818-144849544	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	262 gene(s)	inside rSNPs	diseases
2	nsv1001989	chr1:144007818-144873327	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
3	nsv997949	chr1:144007818-144876884	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
4	nsv1010670	chr1:144007818-144880405	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
5	nsv1010163	chr1:144007818-144884322	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
6	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	esv1828275	chr1:144274482-145098718	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
8	nsv1014641	chr1:144337917-144880405	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
9	nsv998833	chr1:144337917-144885032	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
10	nsv1009682	chr1:144471974-144876884	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
11	nsv1008142	chr1:144471974-144880405	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
12	nsv1001693	chr1:144471974-145290292	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	311 gene(s)	inside rSNPs	diseases
13	nsv872206	chr1:144544101-144881389	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv872207	chr1:144560355-144859086	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv872208	chr1:144560355-144875799	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv872209	chr1:144600291-144881389	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv872210	chr1:144617179-144924792	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
18	esv1843250	chr1:144672525-144853231	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
19	esv3359519	chr1:144674517-144950252	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv3493993	chr1:144674667-144950191	Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
21	esv3493994	chr1:144674667-144950191	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	esv1830469	chr1:144679113-145320996	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
23	nsv436611	chr1:144709882-144978624	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
24	nsv435736	chr1:144709964-144987027	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
25	esv13384	chr1:144810749-144843777	ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
26	esv18675	chr1:144810749-144882876	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
27	nsv946244	chr1:144811539-144897508	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
28	nsv831315	chr1:144813808-144962476	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
29	nsv872211	chr1:144828599-144894697	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
30	esv2761854	chr1:144832255-144921857	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
31	esv2630464	chr1:144841079-144893666	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144810000-144843200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:144811600-144842200	Weak transcription	HUVEC	blood vessel
3	chr1:144812600-144843200	Weak transcription	Fetal Lung	lung
4	chr1:144812600-144850200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:144814600-144843400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:144815600-144843000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:144821400-144865000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:144824600-144863400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:144826600-144860000	Weak transcription	Fetal Kidney	kidney
10	chr1:144834400-144843200	Weak transcription	K562	blood
11	chr1:144836600-144851200	Weak transcription	NHDF-Ad	bronchial
12	chr1:144838200-144855600	Weak transcription	HMEC	breast
13	chr1:144838800-144841600	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:144839800-144841600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:144839800-144844800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr1:144840200-144844800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:144840400-144841400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:144840400-144841400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:144840400-144841400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:144840400-144841400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:144840400-144841400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:144840400-144841400	ZNF genes & repeats	Liver	Liver
23	chr1:144840400-144841400	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr1:144840400-144841400	ZNF genes & repeats	HSMM	muscle
25	chr1:144840400-144841400	Genic enhancers	Osteobl	bone
26	chr1:144840400-144841600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:144840400-144841600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr1:144840400-144841600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr1:144840400-144841600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr1:144840400-144841600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:144840400-144841600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:144840400-144841600	Strong transcription	Adipose Nuclei	Adipose
33	chr1:144840400-144841600	Strong transcription	Aorta	Aorta
34	chr1:144840400-144841600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr1:144840400-144841600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr1:144840400-144841600	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr1:144840400-144841600	ZNF genes & repeats	Placenta	Placenta
38	chr1:144840600-144841600	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr1:144840600-144841800	Strong transcription	Brain Germinal Matrix	brain
40	chr1:144840800-144841400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:144840800-144841400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:144840800-144841400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:144840800-144841400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:144840800-144841400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:144840800-144841400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:144840800-144841400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:144840800-144841400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:144840800-144841400	Genic enhancers	Brain Anterior Caudate	brain
49	chr1:144840800-144841400	Genic enhancers	Brain Substantia Nigra	brain
50	chr1:144840800-144841400	Strong transcription	Pancreatic Islets	Pancreatic Islet

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