Variant report

Variant	rs72938808
Chromosome Location	chr18:8636572-8636573
allele	A/G
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	POLR2A	chr18:8635594-8639113	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:8609439..8612393-chr18:8636257..8639146,2	MCF-7	breast:
2	chr18:8631252..8633110-chr18:8634888..8637488,2	MCF-7	breast:
3	chr18:8608610..8610450-chr18:8634759..8636817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266708	TF binding region
ENSG00000206418	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs321663	1.00[ASN][1000 genomes]
rs399600	1.00[ASN][1000 genomes]
rs55906430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72938810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938823	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic 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	23 gene(s)	inside rSNPs	diseases
3	nsv2200	chr18:8618182-8663130	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1001194	chr18:8636113-8639190	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 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	chr18:8623600-8640600	Strong transcription	Dnd41	blood
2	chr18:8624200-8638200	Weak transcription	Stomach Mucosa	stomach
3	chr18:8624200-8641200	Weak transcription	Small Intestine	intestine
4	chr18:8624600-8640200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr18:8624600-8640400	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr18:8624600-8640800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:8624800-8641600	Strong transcription	GM12878-XiMat	blood
8	chr18:8625000-8640600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr18:8625000-8640800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr18:8625000-8640800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:8625000-8641000	Strong transcription	Fetal Thymus	thymus
12	chr18:8625000-8641000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr18:8625000-8641600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:8627000-8641600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:8628600-8637800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:8628600-8639600	Weak transcription	Brain Angular Gyrus	brain
17	chr18:8629200-8639800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:8629200-8640400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr18:8629200-8640600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:8629200-8640800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr18:8629200-8640800	Strong transcription	Thymus	Thymus
22	chr18:8629200-8641000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr18:8629200-8643200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:8629400-8638600	Strong transcription	Fetal Intestine Small	intestine
25	chr18:8629400-8638600	Strong transcription	Fetal Stomach	stomach
26	chr18:8629400-8640400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:8629400-8640600	Strong transcription	Fetal Intestine Large	intestine
28	chr18:8629400-8640800	Strong transcription	Fetal Muscle Leg	muscle
29	chr18:8629400-8641000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:8629400-8641400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:8629600-8641600	Strong transcription	Adipose Nuclei	Adipose
32	chr18:8629800-8642000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:8630000-8647400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:8630400-8645800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr18:8630600-8637400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr18:8630600-8640600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:8630600-8641400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:8630800-8640400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr18:8631000-8639400	Strong transcription	K562	blood
40	chr18:8631200-8636800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr18:8631200-8640600	Strong transcription	Liver	Liver
42	chr18:8631200-8641600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:8631400-8640600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:8631600-8640800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr18:8631600-8642800	Weak transcription	Right Atrium	heart
46	chr18:8632000-8640000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr18:8632000-8640800	Strong transcription	Placenta	Placenta
48	chr18:8632200-8637000	Strong transcription	NHLF	lung
49	chr18:8632200-8638600	Strong transcription	Lung	lung
50	chr18:8632200-8641000	Strong transcription	Duodenum Mucosa	Duodenum

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