Variant report

Variant	rs587749261
Chromosome Location	chr1:144886942-144886943
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	MAX	chr1:144886516-144887000	K562	blood:	n/a	n/a
2	POLR2A	chr1:144886257-144888217	U87	brain:	n/a	n/a
3	POLR2A	chr1:144885901-144887957	U87	brain:	n/a	n/a
4	POLR2A	chr1:144886508-144887328	K562	blood:	n/a	n/a
5	GATA3	chr1:144886497-144886961	T-47D	breast:	n/a	n/a
6	ZNF263	chr1:144886614-144886996	HEK293-T-REx	kidney:	n/a	n/a
7	E2F4	chr1:144886571-144886942	K562	blood:	n/a	chr1:144886739-144886751 chr1:144886740-144886751
8	POLR2A	chr1:144886395-144887001	K562	blood:	n/a	n/a
9	CEBPD	chr1:144886542-144887059	K562	blood:	n/a	n/a
10	HA-E2F1	chr1:144886489-144887000	MCF-7	breast:	n/a	chr1:144886739-144886751
11	POLR2A	chr1:144886602-144886985	K562	blood:	n/a	n/a
12	GATA1	chr1:144886573-144886945	K562	blood:	n/a	n/a
13	POLR2A	chr1:144886587-144888217	U87	brain:	n/a	n/a
14	GATA3	chr1:144886602-144886957	T-47D	breast:	n/a	n/a
15	GATA2	chr1:144886570-144886979	K562	blood:	n/a	n/a
16	RCOR1	chr1:144886593-144887107	K562	blood:	n/a	n/a
17	GATA1	chr1:144885556-144889841	K562	blood:	n/a	chr1:144887471-144887492 chr1:144888958-144888965 chr1:144887210-144887220 chr1:144887474-144887485 chr1:144887213-144887222
18	JUND	chr1:144886640-144886952	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:144886541..144889030-chr1:144932018..144933743,3	MCF-7	breast:
2	chr1:17045982..17048017-chr1:144885102..144888081,2	K562	blood:
3	chr1:17046027..17047625-chr1:144886603..144888109,2	MCF-7	breast:
4	chr1:144873922..144875453-chr1:144885951..144887655,2	MCF-7	breast:
5	chr1:144881667..144883836-chr1:144885018..144890367,4	K562	blood:
6	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:

Variant related genes	Relation type
PDE4DIP	TF binding region
ENSG00000268869	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000254913	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv872212	chr1:144850451-145073750	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
17	nsv872213	chr1:144865454-145033984	Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
18	nsv1009283	chr1:144865627-144950969	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv1005230	chr1:144865627-145151820	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
20	esv1828244	chr1:144865627-145243316	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
21	nsv469838	chr1:144869935-145009137	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
22	nsv482650	chr1:144869935-145009137	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
23	nsv471603	chr1:144869936-145009137	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
24	esv2753760	chr1:144873327-145041016	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
25	esv2753260	chr1:144873327-145129144	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
26	nsv2	chr1:144874979-144913548	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv2633	chr1:144874979-144913548	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv872214	chr1:144875799-145195645	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
29	nsv1009955	chr1:144880316-144935874	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
30	esv1010993	chr1:144881391-144919679	ZNF genes & repeats Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
31	nsv1000251	chr1:144884237-144949963	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
32	nsv8058	chr1:144885768-144890168	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv821620	chr1:144885908-145095806	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
34	esv1805129	chr1:144886198-144889137	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
2	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
3	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
4	chr1:144860200-144888400	Strong transcription	Fetal Muscle Leg	muscle
5	chr1:144860400-144887200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:144861400-144887200	Strong transcription	Aorta	Aorta
7	chr1:144866400-144887200	Weak transcription	HUVEC	blood vessel
8	chr1:144866800-144888000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:144868600-144892400	Weak transcription	Fetal Thymus	thymus
10	chr1:144869400-144905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:144874600-144901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:144874800-144887600	Weak transcription	Dnd41	blood
13	chr1:144874800-144906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:144875000-144891400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:144875000-144893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:144875000-144911000	Weak transcription	Thymus	Thymus
17	chr1:144875200-144887000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:144876800-144892400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:144877000-144890200	Weak transcription	Small Intestine	intestine
20	chr1:144877400-144902200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:144879800-144887200	Weak transcription	NH-A	brain
22	chr1:144881000-144891800	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:144881200-144887200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:144881200-144890800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:144881400-144890600	Weak transcription	Fetal Lung	lung
26	chr1:144881400-144891000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:144881400-144904800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:144882000-144892600	Weak transcription	HepG2	liver
29	chr1:144882600-144891800	Weak transcription	Pancreas	Pancrea
30	chr1:144882800-144887400	Weak transcription	HMEC	breast
31	chr1:144882800-144887800	Weak transcription	Gastric	stomach
32	chr1:144883000-144887800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:144883000-144890000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:144883000-144890200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:144883000-144890200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:144883000-144890400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:144883000-144891800	Weak transcription	Spleen	Spleen
38	chr1:144883000-144892400	Weak transcription	Esophagus	oesophagus
39	chr1:144883000-144893200	Weak transcription	Fetal Intestine Small	intestine
40	chr1:144883000-144902600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:144883000-144902800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:144883000-144911600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:144883200-144889400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:144883200-144890000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:144883200-144890200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:144883200-144890200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:144883200-144890800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:144883200-144891000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:144883200-144891800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:144883200-144902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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