Variant report

Variant	rs57225690
Chromosome Location	chr7:100863575-100863576
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr7:100863501-100864044	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100863372-100863593	HepG2	liver:	n/a	n/a
3	MYBL2	chr7:100863515-100864037	HepG2	liver:	n/a	n/a
4	MAX	chr7:100863526-100864096	HepG2	liver:	n/a	n/a
5	FOXA2	chr7:100863562-100863921	HepG2	liver:	n/a	n/a
6	HDAC2	chr7:100863557-100864010	HepG2	liver:	n/a	n/a
7	RXRA	chr7:100863544-100863875	HepG2	liver:	n/a	n/a
8	EP300	chr7:100863537-100864037	HepG2	liver:	n/a	n/a
9	SP1	chr7:100863538-100863975	HepG2	liver:	n/a	n/a
10	HNF4G	chr7:100863515-100863985	HepG2	liver:	n/a	chr7:100863764-100863779
11	RXRA	chr7:100863561-100863915	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100859700..100862927-chr7:100863052..100866687,4	MCF-7	breast:
2	chr7:100863090..100866963-chr7:100885534..100889185,4	MCF-7	breast:
3	chr7:100808076..100812812-chr7:100858488..100864832,8	MCF-7	breast:
4	chr7:100859877..100865511-chr7:100878168..100882490,7	MCF-7	breast:
5	chr7:100859400..100864017-chr7:100886115..100890578,15	K562	blood:
6	chr7:100850699..100858131-chr7:100858977..100863722,10	K562	blood:

No data

Variant related genes	Relation type
PLOD3	TF binding region
ZNHIT1	TF binding region
ENSG00000128564	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000106404	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10215517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227700	1.00[AMR][1000 genomes]
rs28429010	0.86[AFR][1000 genomes]
rs56037105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56115622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56134317	1.00[AMR][1000 genomes]
rs56908565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58061448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58680639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928515	1.00[AMR][1000 genomes]
rs73713814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
20	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100861200-100863600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:100862200-100863800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:100862200-100863800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:100862200-100863800	Enhancers	Lung	lung
5	chr7:100862200-100863800	Enhancers	Pancreas	Pancrea
6	chr7:100862200-100863800	Enhancers	Spleen	Spleen
7	chr7:100862200-100864000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:100862200-100864000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:100862200-100864000	Enhancers	Fetal Heart	heart
10	chr7:100862200-100864000	Enhancers	Gastric	stomach
11	chr7:100862200-100864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:100862200-100864800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:100862200-100865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:100862200-100865000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:100862200-100865400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:100862200-100866800	Weak transcription	Small Intestine	intestine
17	chr7:100862200-100875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:100862400-100863600	Enhancers	Left Ventricle	heart
19	chr7:100862400-100863800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:100862400-100863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:100862400-100863800	Enhancers	Ovary	ovary
22	chr7:100862400-100863800	Enhancers	Psoas Muscle	Psoas
23	chr7:100862400-100863800	Enhancers	Right Atrium	heart
24	chr7:100862400-100864000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:100862400-100864000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:100862400-100864000	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:100862400-100864000	Enhancers	Brain Hippocampus Middle	brain
28	chr7:100862400-100864000	Enhancers	Stomach Mucosa	stomach
29	chr7:100862400-100864400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:100862400-100865000	Weak transcription	A549	lung
31	chr7:100862400-100865200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:100862400-100865200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:100862400-100866000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:100862400-100866000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:100862400-100866000	Weak transcription	Fetal Lung	lung
36	chr7:100862400-100866000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:100862400-100866800	Weak transcription	NHDF-Ad	bronchial
38	chr7:100862400-100867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:100862400-100867000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:100862400-100867200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:100862400-100867800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:100862400-100868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:100862400-100874400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:100862400-100875400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
46	chr7:100862600-100863600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:100862600-100863800	Enhancers	Primary T cells from cord blood	blood
48	chr7:100862600-100863800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:100862600-100863800	Enhancers	Colonic Mucosa	Colon
50	chr7:100862600-100863800	Enhancers	Hela-S3	cervix

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