Variant report

Variant	rs7238722
Chromosome Location	chr18:39536765-39536766
allele	G/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	TBL1XR1	chr18:39534400-39537224	K562	blood:	n/a	n/a
2	CTCF	chr18:39536612-39536819	K562	blood:	n/a	n/a
3	POLR2A	chr18:39536585-39536985	MCF10A-Er-Src	breast:	n/a	n/a
4	CUX1	chr18:39534332-39536769	K562	blood:	n/a	n/a
5	ZMIZ1	chr18:39536610-39536821	K562	blood:	n/a	n/a
6	POLR2A	chr18:39534844-39536908	IMR90	lung:	n/a	n/a
7	HCFC1	chr18:39536749-39536936	K562	blood:	n/a	n/a
8	POLR2A	chr18:39534595-39539390	K562	blood:	n/a	n/a
9	POLR2A	chr18:39536309-39537341	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PIK3C3	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs604984	1.00[AMR][1000 genomes]
rs647820	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39534400-39537000	Active TSS	K562	blood
2	chr18:39534600-39536800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr18:39534600-39536800	Active TSS	Aorta	Aorta
4	chr18:39534600-39536800	Active TSS	Right Atrium	heart
5	chr18:39534600-39536800	Active TSS	HMEC	breast
6	chr18:39534600-39537200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:39534600-39537400	Active TSS	GM12878-XiMat	blood
8	chr18:39535000-39536800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:39535400-39536800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:39535600-39536800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr18:39535600-39536800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:39535800-39536800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:39535800-39536800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr18:39535800-39536800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr18:39535800-39536800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr18:39535800-39536800	Flanking Active TSS	Fetal Brain Female	brain
17	chr18:39535800-39536800	Flanking Active TSS	Fetal Lung	lung
18	chr18:39535800-39536800	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr18:39535800-39536800	Flanking Active TSS	Dnd41	blood
20	chr18:39535800-39536800	Flanking Active TSS	NH-A	brain
21	chr18:39535800-39536800	Flanking Active TSS	Osteobl	bone
22	chr18:39535800-39537000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr18:39535800-39537400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:39535800-39537400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:39536000-39536800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr18:39536000-39536800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr18:39536000-39536800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr18:39536000-39536800	Enhancers	Small Intestine	intestine
29	chr18:39536000-39536800	Flanking Active TSS	NHEK	skin
30	chr18:39536000-39537000	Enhancers	Primary B cells from peripheral blood	blood
31	chr18:39536000-39537200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:39536000-39537400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr18:39536000-39537800	Weak transcription	Placenta	Placenta
34	chr18:39536000-39538200	Weak transcription	Gastric	stomach
35	chr18:39536000-39541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr18:39536000-39545400	Weak transcription	Lung	lung
37	chr18:39536000-39547000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:39536000-39547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:39536000-39547000	Weak transcription	Left Ventricle	heart
40	chr18:39536000-39547200	Weak transcription	Esophagus	oesophagus
41	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
42	chr18:39536200-39536800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr18:39536200-39536800	Enhancers	Primary hematopoietic stem cells	blood
44	chr18:39536200-39536800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr18:39536200-39536800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:39536200-39536800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr18:39536200-39536800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr18:39536200-39536800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr18:39536200-39536800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr18:39536200-39536800	Enhancers	Fetal Intestine Large	intestine

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