Variant report

Variant	rs11718580
Chromosome Location	chr3:23957795-23957796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr3:23957771-23958119	K562	blood:	n/a	chr3:23957980-23957995
2	CHD1	chr3:23957214-23960192	IMR90	lung:	n/a	n/a
3	POLR2A	chr3:23957643-23960742	MCF10A-Er-Src	breast:	n/a	n/a
4	SIN3A	chr3:23957682-23959805	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr3:23957761-23958984	A549	lung:	n/a	chr3:23958468-23958480
6	SREBP1	chr3:23957585-23960048	GM12878	blood:	n/a	n/a
7	RUNX3	chr3:23957754-23959327	GM12878	blood:	n/a	n/a
8	NR2F2	chr3:23957689-23959530	K562	blood:	n/a	n/a
9	RCOR1	chr3:23956779-23959303	K562	blood:	n/a	n/a
10	CTCF	chr3:23957416-23958848	K562	blood:	n/a	chr3:23958512-23958525 chr3:23958464-23958474 chr3:23958515-23958524 chr3:23958462-23958475
11	FOXM1	chr3:23957716-23959508	GM12878	blood:	n/a	n/a
12	JUND	chr3:23956927-23959302	K562	blood:	n/a	chr3:23957807-23957821 chr3:23957714-23957723
13	MAX	chr3:23957784-23959344	Hela-S3	cervix:	n/a	n/a
14	SIN3AK20	chr3:23957792-23960005	MCF-7	breast:	n/a	n/a
15	MAX	chr3:23957767-23959369	HCT-116	colon:	n/a	n/a
16	TBL1XR1	chr3:23957012-23959310	K562	blood:	n/a	n/a
17	BHLHE40	chr3:23957070-23959340	K562	blood:	n/a	n/a
18	UBTF	chr3:23957205-23959728	K562	blood:	n/a	n/a
19	POLR2A	chr3:23957083-23960668	MCF10A-Er-Src	breast:	n/a	n/a
20	MAZ	chr3:23957499-23959352	IMR90	lung:	n/a	n/a
21	MXI1	chr3:23957722-23959396	IMR90	lung:	n/a	n/a
22	MAX	chr3:23957785-23959699	NB4	blood:	n/a	n/a
23	IRF1	chr3:23957183-23959343	K562	blood:	n/a	chr3:23958467-23958481
24	HCFC1	chr3:23957475-23959419	Hela-S3	cervix:	n/a	n/a
25	MTA3	chr3:23957733-23959875	GM12878	blood:	n/a	n/a
26	GATA2	chr3:23957218-23959200	SH-SY5Y	brain:	n/a	n/a
27	MAX	chr3:23957741-23959767	A549	lung:	n/a	n/a
28	REST	chr3:23956836-23959890	H1-neurons	neurons:	n/a	chr3:23958595-23958608 chr3:23958203-23958212
29	TEAD4	chr3:23956932-23959905	K562	blood:	n/a	n/a
30	TCF12	chr3:23957757-23959462	A549	lung:	n/a	chr3:23958028-23958038

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23956587..23958412-chr3:24004653..24006341,2	K562	blood:
2	chr3:23956507..23958836-chr3:25705831..25708315,2	K562	blood:
3	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
4	chr3:23850301..23853237-chr3:23957517..23960615,4	MCF-7	breast:
5	chr17:58167241..58170093-chr3:23957521..23960210,2	MCF-7	breast:
6	chr3:23957476..23960072-chr3:25467685..25470119,2	K562	blood:
7	chr3:23956080..23959048-chr3:23995915..23997492,2	MCF-7	breast:
8	chr1:203059673..203062550-chr3:23957552..23960185,2	MCF-7	breast:
9	chr3:23852479..23855481-chr3:23956917..23960502,4	MCF-7	breast:
10	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
11	chr3:23957534..23959919-chr3:25823926..25825755,2	K562	blood:
12	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
13	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
14	chr3:23957572..23960051-chr3:23995970..23999234,5	MCF-7	breast:

No data

Variant related genes	Relation type
RPL15	TF binding region
ENSG00000170142	Chromatin interaction
ENSG00000261040	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000151092	Chromatin interaction
ENSG00000077097	Chromatin interaction
ENSG00000264219	Chromatin interaction
ENSG00000223791	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000163485	Chromatin interaction
ENSG00000077092	Chromatin interaction
ENSG00000151093	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72627006	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23924200-23957800	Weak transcription	Esophagus	oesophagus
2	chr3:23924200-23957800	Weak transcription	Lung	lung
3	chr3:23946000-23957800	Weak transcription	Gastric	stomach
4	chr3:23952000-23957800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:23956000-23957800	Enhancers	Small Intestine	intestine
6	chr3:23956200-23957800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:23956400-23958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:23956600-23957800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:23956600-23957800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:23956600-23958000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:23956600-23958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:23956800-23957800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr3:23956800-23957800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr3:23956800-23958000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:23956800-23958000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:23956800-23959200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:23956800-23959400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:23956800-23959400	Active TSS	Brain Angular Gyrus	brain
19	chr3:23957000-23957800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:23957000-23957800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:23957000-23957800	Enhancers	Primary B cells from peripheral blood	blood
22	chr3:23957000-23957800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:23957000-23957800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:23957000-23957800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr3:23957000-23957800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr3:23957000-23957800	Flanking Active TSS	A549	lung
27	chr3:23957000-23957800	Flanking Active TSS	K562	blood
28	chr3:23957000-23957800	Flanking Active TSS	Osteobl	bone
29	chr3:23957000-23958000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr3:23957000-23958000	Flanking Active TSS	Hela-S3	cervix
31	chr3:23957000-23958200	Flanking Active TSS	HMEC	breast
32	chr3:23957000-23958200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr3:23957000-23959400	Active TSS	Colon Smooth Muscle	Colon
34	chr3:23957000-23959600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr3:23957000-23959600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr3:23957000-23959600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:23957000-23960400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:23957000-23960600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:23957000-23960600	Active TSS	Right Atrium	heart
40	chr3:23957200-23957800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr3:23957200-23957800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
42	chr3:23957200-23957800	Weak transcription	Aorta	Aorta
43	chr3:23957200-23957800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr3:23957200-23957800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr3:23957200-23957800	Enhancers	Stomach Mucosa	stomach
46	chr3:23957200-23957800	Enhancers	Spleen	Spleen
47	chr3:23957200-23958000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr3:23957200-23958000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr3:23957200-23958000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr3:23957200-23958000	Flanking Active TSS	Dnd41	blood

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