Variant report

Variant	rs7232442
Chromosome Location	chr18:13007146-13007147
allele	C/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	SPI1	chr18:13006928-13007526	HL-60	blood:	n/a	chr18:13007348-13007361

No.	Distal block	Cell Line	Cell type
1	chr18:12989546..12991386-chr18:13006007..13008502,2	K562	blood:
2	chr18:12946237..12948654-chr18:13006557..13008669,3	K562	blood:
3	chr18:12946000..12947737-chr18:13006165..13008057,2	K562	blood:

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000266969	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000085415	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57104210	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57277014	0.83[AFR][1000 genomes]
rs59469521	1.00[AMR][1000 genomes]
rs59546709	1.00[AMR][1000 genomes]
rs61739747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62095797	0.83[AFR][1000 genomes]
rs62095825	0.83[AFR][1000 genomes]
rs62095827	0.83[AFR][1000 genomes]
rs62095828	0.83[AFR][1000 genomes]
rs7243492	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7245341	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12992800-13008800	Weak transcription	Colonic Mucosa	Colon
3	chr18:12992800-13009200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
5	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr18:12993200-13008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:12993200-13008400	Weak transcription	Osteobl	bone
9	chr18:12993200-13008800	Weak transcription	NHLF	lung
10	chr18:12993400-13008200	Weak transcription	Brain Angular Gyrus	brain
11	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
12	chr18:12993600-13011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:12993600-13011800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:12993800-13008400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:12993800-13008400	Weak transcription	Psoas Muscle	Psoas
16	chr18:12993800-13008400	Weak transcription	HMEC	breast
17	chr18:12993800-13008800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:12993800-13009200	Weak transcription	NHDF-Ad	bronchial
19	chr18:12995000-13011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:12997000-13008200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:12997000-13008600	Weak transcription	Brain Anterior Caudate	brain
23	chr18:12997000-13008800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:12997200-13011200	Weak transcription	Right Ventricle	heart
25	chr18:12997200-13013200	Weak transcription	Small Intestine	intestine
26	chr18:12997400-13008800	Weak transcription	Pancreas	Pancrea
27	chr18:12997400-13015000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr18:12998400-13041600	Strong transcription	Dnd41	blood
29	chr18:12998600-13008600	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:12998800-13008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:12999000-13007800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:12999000-13008800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr18:12999000-13011800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
35	chr18:12999400-13020800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr18:12999400-13021800	Strong transcription	Primary T cells from cord blood	blood
37	chr18:12999600-13017200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:12999600-13018800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:13000200-13011200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:13000600-13007200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr18:13000600-13007400	Strong transcription	Fetal Stomach	stomach
43	chr18:13001600-13008400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:13001600-13008400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr18:13001600-13008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:13001600-13008600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:13001800-13008400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:13002000-13008400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr18:13002200-13008400	Weak transcription	HSMM	muscle
50	chr18:13002600-13007800	Weak transcription	Liver	Liver

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