Variant report

Variant	rs79748779
Chromosome Location	chr1:155660539-155660540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:155660409-155660780	MCF-7	breast:	n/a	n/a
2	FOXA1	chr1:155660411-155660643	T-47D	breast:	n/a	n/a
3	GATA3	chr1:155660483-155660643	SH-SY5Y	brain:	n/a	n/a
4	FOXA1	chr1:155660455-155660714	T-47D	breast:	n/a	n/a
5	POLR2A	chr1:155660483-155660710	K562	blood:	n/a	n/a
6	ZNF384	chr1:155660431-155660681	K562	blood:	n/a	n/a
7	GATA3	chr1:155660258-155660791	MCF-7	breast:	n/a	n/a
8	ESR1	chr1:155660424-155660732	T-47D	breast:	n/a	n/a
9	GATA3	chr1:155660109-155660771	MCF-7	breast:	n/a	n/a
10	FOXA1	chr1:155660290-155660709	HepG2	liver:	n/a	n/a
11	GATA3	chr1:155660261-155660768	T-47D	breast:	n/a	n/a
12	GATA3	chr1:155660055-155660701	MCF-7	breast:	n/a	n/a
13	MAX	chr1:155660486-155660783	K562	blood:	n/a	n/a
14	GATA3	chr1:155660321-155660793	T-47D	breast:	n/a	n/a
15	GATA3	chr1:155660348-155660680	MCF-7	breast:	n/a	n/a
16	FOXA1	chr1:155660464-155660723	HepG2	liver:	n/a	n/a
17	HA-E2F1	chr1:155660432-155661093	MCF-7	breast:	n/a	n/a
18	FOXA2	chr1:155660416-155660659	HepG2	liver:	n/a	n/a
19	ESR1	chr1:155660448-155660708	T-47D	breast:	n/a	n/a
20	POLR2A	chr1:155660438-155660759	K562	blood:	n/a	n/a
21	POLR2A	chr1:155660001-155660634	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155660408..155662039-chr1:156023263..156025493,2	K562	blood:
2	chr1:155658633..155662039-chr1:156022948..156025065,3	K562	blood:
3	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:

No data

Variant related genes	Relation type
YY1AP1	TF binding region
ENSG00000160803	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	nsv3054	chr1:155653835-155673509	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
13	esv3339868	chr1:155658028-155662426	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
14	esv3529730	chr1:155658528-155665576	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
15	esv3319427	chr1:155658853-155661701	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
16	esv3319428	chr1:155658853-155661701	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
17	esv3529724	chr1:155659028-155665126	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	esv3319429	chr1:155659028-155665326	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
19	esv3452512	chr1:155659621-155664566	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
20	esv3529726	chr1:155659644-155664581	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
21	esv3529725	chr1:155659667-155664604	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
22	esv3452511	chr1:155659675-155664534	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
23	esv3529727	chr1:155659701-155664609	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
24	esv3452510	chr1:155659746-155664469	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
25	esv15603	chr1:155659754-155664482	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
26	esv3529731	chr1:155659756-155664467	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
27	esv3452513	chr1:155659760-155664465	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
28	esv3529732	chr1:155659760-155664465	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
29	nsv514012	chr1:155659776-155664208	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155659400-155660600	Enhancers	Fetal Brain Male	brain
2	chr1:155659400-155668200	Weak transcription	Aorta	Aorta
3	chr1:155659600-155660800	Enhancers	Spleen	Spleen
4	chr1:155659600-155664600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:155659600-155666400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155659800-155660600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:155659800-155660600	Enhancers	Primary B cells from cord blood	blood
8	chr1:155659800-155660600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:155659800-155660600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:155659800-155660600	Enhancers	Brain Angular Gyrus	brain
11	chr1:155659800-155660600	Enhancers	Stomach Mucosa	stomach
12	chr1:155659800-155660800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:155659800-155661600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:155659800-155664600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:155660000-155660600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:155660000-155660600	Enhancers	Brain Substantia Nigra	brain
17	chr1:155660000-155660800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:155660000-155661000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:155660000-155661600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:155660000-155661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:155660000-155667600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:155660200-155660600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:155660200-155660600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:155660200-155660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:155660200-155660600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
26	chr1:155660200-155660600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:155660200-155660600	Enhancers	Adipose Nuclei	Adipose
28	chr1:155660200-155660600	Enhancers	Liver	Liver
29	chr1:155660200-155660600	Enhancers	Brain Hippocampus Middle	brain
30	chr1:155660200-155660600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr1:155660200-155660600	Active TSS	GM12878-XiMat	blood
32	chr1:155660200-155660600	Enhancers	HUVEC	blood vessel
33	chr1:155660200-155660800	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr1:155660200-155660800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:155660200-155660800	Enhancers	Right Atrium	heart
36	chr1:155660200-155661000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:155660200-155661200	Weak transcription	NH-A	brain
38	chr1:155660200-155661400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:155660200-155661400	Weak transcription	Fetal Intestine Small	intestine
40	chr1:155660200-155661600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:155660200-155661600	Weak transcription	HSMMtube	muscle
42	chr1:155660200-155661800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:155660200-155662000	Transcr. at gene 5' and 3'	K562	blood
44	chr1:155660200-155662200	Weak transcription	Fetal Lung	lung
45	chr1:155660200-155663400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:155660200-155664200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:155660200-155664200	Weak transcription	Thymus	Thymus
48	chr1:155660200-155664600	Weak transcription	NHDF-Ad	bronchial
49	chr1:155660200-155665000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:155660200-155665000	Weak transcription	Rectal Smooth Muscle	rectum

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