Variant report

Variant	rs631388
Chromosome Location	chr18:39552269-39552270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:39535319..39538117-chr18:39550578..39552520,2	K562	blood:
2	chr18:39550418..39552768-chr18:39552800..39556152,4	K562	blood:
3	chr18:39551912..39556568-chr18:39556669..39562027,6	K562	blood:
4	chr18:39551994..39554075-chr18:39573084..39575388,2	K562	blood:
5	chr18:39551912..39554681-chr18:39556259..39560409,4	K562	blood:

Variant related genes	Relation type
ENSG00000078142	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16975453	1.00[AMR][1000 genomes]
rs472141	0.82[AFR][1000 genomes]
rs500702	0.84[AFR][1000 genomes]
rs508867	0.82[AFR][1000 genomes]
rs519558	0.84[AFR][1000 genomes]
rs530790	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs555275	0.82[AFR][1000 genomes]
rs569070	0.84[AFR][1000 genomes]
rs591823	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606641	0.85[AMR][1000 genomes]
rs650025	1.00[AMR][1000 genomes]
rs670596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs677886	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs685164	0.80[AFR][1000 genomes];1.00[AMR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536200-39552400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:39536200-39564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:39536200-39568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:39536400-39552400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:39536400-39578200	Weak transcription	A549	lung
7	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:39537400-39552400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:39537400-39553000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:39537400-39555800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr18:39537600-39552800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:39537600-39553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:39542400-39552400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr18:39545000-39552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr18:39545200-39555600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:39545600-39583600	Weak transcription	Small Intestine	intestine
18	chr18:39546000-39557400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:39546200-39563800	Weak transcription	Fetal Heart	heart
20	chr18:39547400-39564600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:39547600-39557400	Weak transcription	Fetal Intestine Small	intestine
22	chr18:39547600-39559200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:39547600-39580600	Weak transcription	Spleen	Spleen
24	chr18:39547800-39569000	Weak transcription	Fetal Brain Female	brain
25	chr18:39548000-39553400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:39548000-39553400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:39548000-39554200	Weak transcription	Right Ventricle	heart
28	chr18:39548000-39557400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:39548000-39576000	Weak transcription	Fetal Brain Male	brain
30	chr18:39548000-39580200	Weak transcription	Pancreas	Pancrea
31	chr18:39548200-39552600	Weak transcription	Thymus	Thymus
32	chr18:39548200-39555000	Weak transcription	Aorta	Aorta
33	chr18:39548200-39557600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr18:39548200-39557600	Weak transcription	Fetal Stomach	stomach
35	chr18:39548200-39564600	Weak transcription	Esophagus	oesophagus
36	chr18:39548200-39564800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:39548200-39569200	Weak transcription	Ovary	ovary
38	chr18:39548200-39576600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:39548200-39579400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr18:39548200-39580200	Weak transcription	Lung	lung
41	chr18:39548200-39580400	Weak transcription	NHLF	lung
42	chr18:39548400-39553800	Weak transcription	Colon Smooth Muscle	Colon
43	chr18:39548400-39557200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:39548400-39557600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:39548400-39562600	Weak transcription	NHEK	skin
46	chr18:39548400-39563400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr18:39548400-39573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:39548400-39576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr18:39548600-39573400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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