Variant report

Variant	rs59305481
Chromosome Location	chr7:105172121-105172122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr7:105171920-105173368	K562	blood:	n/a	n/a
2	TBL1XR1	chr7:105171922-105173240	K562	blood:	n/a	n/a
3	FOXM1	chr7:105171992-105172942	GM12878	blood:	n/a	n/a
4	MAX	chr7:105172041-105173080	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:105171889-105172235	GM12891	blood:	n/a	n/a
6	MAZ	chr7:105171976-105173147	K562	blood:	n/a	n/a
7	SIN3AK20	chr7:105171926-105172158	HepG2	liver:	n/a	n/a
8	MAZ	chr7:105171881-105173029	GM12878	blood:	n/a	n/a
9	JUND	chr7:105171973-105172787	HepG2	liver:	n/a	n/a
10	E2F6	chr7:105172109-105173500	K562	blood:	n/a	chr7:105173346-105173358 chr7:105172576-105172586 chr7:105172985-105172992
11	CTCF	chr7:105172080-105172230	HEEpiC	esophagus:	n/a	n/a
12	ELF1	chr7:105171835-105172143	HepG2	liver:	n/a	n/a
13	SIN3A	chr7:105172012-105172945	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:105171937-105172244	GM12878	blood:	n/a	n/a
15	CEBPB	chr7:105172058-105172714	H1-hESC	embryonic stem cell:	n/a	n/a
16	NR2F2	chr7:105171756-105173324	K562	blood:	n/a	n/a
17	EBF1	chr7:105172005-105172307	GM12878	blood:	n/a	n/a
18	CTCF	chr7:105172082-105173165	K562	blood:	n/a	n/a
19	RELA	chr7:105171981-105172920	GM19193	blood:	n/a	n/a
20	RUNX3	chr7:105171812-105173093	GM12878	blood:	n/a	n/a
21	TAF1	chr7:105171936-105172241	K562	blood:	n/a	n/a
22	TBL1XR1	chr7:105172012-105173079	K562	blood:	n/a	n/a
23	STAT1	chr7:105172075-105173114	GM12878	blood:	n/a	chr7:105172637-105172644
24	POLR2A	chr7:105171932-105173209	K562	blood:	n/a	n/a
25	POLR2A	chr7:105171760-105173212	GM12892	blood:	n/a	n/a
26	CEBPB	chr7:105172096-105173098	GM12878	blood:	n/a	n/a
27	TBP	chr7:105171923-105173411	K562	blood:	n/a	n/a
28	POLR2A	chr7:105171982-105173227	K562	blood:	n/a	n/a
29	STAT5A	chr7:105171900-105173198	GM12878	blood:	n/a	chr7:105172637-105172644 chr7:105171949-105171960
30	POLR2A	chr7:105171757-105173220	GM18505	blood:	n/a	n/a
31	MAFK	chr7:105172041-105172884	K562	blood:	n/a	n/a
32	SP2	chr7:105171818-105172987	HepG2	liver:	n/a	chr7:105172529-105172552
33	ZMIZ1	chr7:105172053-105173098	K562	blood:	n/a	n/a
34	ELF1	chr7:105171856-105173180	K562	blood:	n/a	chr7:105172751-105172760
35	TBP	chr7:105171867-105173177	HepG2	liver:	n/a	n/a
36	EBF1	chr7:105171938-105173073	GM12878	blood:	n/a	chr7:105173013-105173023
37	JUND	chr7:105171953-105173255	K562	blood:	n/a	n/a
38	EP300	chr7:105171942-105173013	K562	blood:	n/a	n/a
39	POLR2A	chr7:105171855-105173500	K562	blood:	n/a	n/a
40	MYC	chr7:105171920-105173341	K562	blood:	n/a	n/a
41	EBF1	chr7:105171958-105172392	GM12878	blood:	n/a	n/a
42	ZNF143	chr7:105171980-105172961	GM12878	blood:	n/a	n/a
43	ZNF143	chr7:105172081-105172830	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:105171784-105173108	GM12878	blood:	n/a	n/a
45	MXI1	chr7:105171865-105173117	GM12878	blood:	n/a	n/a
46	MAX	chr7:105171843-105172914	GM12878	blood:	n/a	n/a
47	CHD2	chr7:105171974-105172927	K562	blood:	n/a	n/a
48	RELA	chr7:105171969-105173051	GM10847	blood:	n/a	n/a
49	POLR2A	chr7:105171928-105173307	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:105171800-105173196	GM18951	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105171919..105174630-chr7:105210042..105212382,2	K562	blood:
2	chr7:104652025..104655481-chr7:105171171..105174883,4	K562	blood:
3	chr7:105171193..105173393-chr7:105516904..105519168,2	K562	blood:
4	chr7:105162231..105163027-chr7:105172004..105172750,2	K562	blood:
5	chr7:105171071..105173381-chr7:105188092..105190983,2	MCF-7	breast:
6	chr7:104653522..104655991-chr7:105172010..105174113,2	MCF-7	breast:
7	chr7:104652025..104655487-chr7:105171171..105176319,6	K562	blood:
8	chr7:105171534..105175507-chr7:105231963..105234533,3	K562	blood:
9	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
10	chr7:105171405..105173628-chr7:105221272..105223628,2	MCF-7	breast:
11	chr7:105160261..105165362-chr7:105168599..105174293,22	MCF-7	breast:
12	chr7:105160687..105164718-chr7:105170642..105174239,14	MCF-7	breast:
13	chr7:105028215..105030486-chr7:105171271..105172847,2	K562	blood:

No data

Variant related genes	Relation type
RINT1	TF binding region
ENSG00000091127	Chromatin interaction
ENSG00000128536	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000185055	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000146776	Chromatin interaction
ENSG00000272604	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000005483	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55921215	1.00[AMR][1000 genomes]
rs56983405	1.00[AMR][1000 genomes]
rs57532901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58418861	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59250853	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59779897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60665360	1.00[AMR][1000 genomes]
rs60725674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60849892	1.00[AMR][1000 genomes]
rs60977506	1.00[AMR][1000 genomes]
rs61536878	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61621345	1.00[AMR][1000 genomes]
rs73716698	1.00[AMR][1000 genomes]
rs73716700	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' 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	33 gene(s)	inside rSNPs	diseases
8	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105170400-105172600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:105170800-105172200	Flanking Active TSS	Dnd41	blood
3	chr7:105171400-105172400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:105171600-105172400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:105171600-105172400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr7:105171600-105173200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:105171800-105172200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr7:105171800-105172200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:105171800-105172200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:105171800-105172200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:105171800-105172200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:105171800-105172200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:105171800-105172200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:105171800-105172200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr7:105171800-105172200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr7:105171800-105172200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:105171800-105172200	Flanking Active TSS	Thymus	Thymus
18	chr7:105171800-105172200	Flanking Active TSS	Hela-S3	cervix
19	chr7:105171800-105172200	Flanking Active TSS	NHEK	skin
20	chr7:105171800-105172400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr7:105171800-105172400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr7:105171800-105172400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr7:105171800-105172400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr7:105171800-105172400	Flanking Active TSS	Liver	Liver
25	chr7:105171800-105172400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr7:105171800-105172400	Flanking Active TSS	HUVEC	blood vessel
27	chr7:105171800-105172400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:105171800-105172400	Flanking Active TSS	Osteobl	bone
29	chr7:105171800-105172600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:105171800-105172600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:105171800-105172600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:105171800-105172600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr7:105171800-105172800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr7:105171800-105173000	Active TSS	Rectal Smooth Muscle	rectum
35	chr7:105171800-105173200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr7:105171800-105173200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:105171800-105173200	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:105171800-105173200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:105171800-105173200	Active TSS	Brain Angular Gyrus	brain
40	chr7:105171800-105173200	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:105171800-105173200	Active TSS	Duodenum Mucosa	Duodenum
42	chr7:105171800-105173200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:105171800-105173400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:105171800-105173400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:105171800-105173400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:105171800-105173400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:105171800-105173400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:105171800-105173400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:105171800-105173400	Active TSS	Colon Smooth Muscle	Colon
50	chr7:105171800-105173400	Active TSS	Pancreatic Islets	Pancreatic Islet

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