Variant report

Variant	rs2267557
Chromosome Location	chr18:9831905-9831906
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	MAFK	chr18:9831833-9832166	HepG2	liver:	n/a	chr18:9831979-9831995 chr18:9831982-9831997 chr18:9831977-9831997
2	MAFK	chr18:9831813-9832157	HepG2	liver:	n/a	chr18:9831979-9831995 chr18:9831982-9831997 chr18:9831977-9831997
3	CTCF	chr18:9831880-9832030	GM12865	blood:	n/a	n/a
4	MAFF	chr18:9831826-9832150	HepG2	liver:	n/a	chr18:9831981-9831999

No.	Distal block	Cell Line	Cell type
1	chr18:9831324..9833308-chr18:9850650..9852954,2	K562	blood:
2	chr18:9830299..9831953-chr18:9913210..9915403,2	MCF-7	breast:
3	chr18:9831165..9832828-chr18:9833796..9836130,2	MCF-7	breast:
4	chr18:9829689..9832569-chr18:9935546..9937102,2	K562	blood:

Variant related genes	Relation type
RN7SL862P	TF binding region
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1476846	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1476847	0.93[ASN][1000 genomes]
rs3960639	0.84[ASN][1000 genomes]
rs9961019	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:9825400-9832200	Weak transcription	Fetal Stomach	stomach
5	chr18:9825400-9849800	Weak transcription	Gastric	stomach
6	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
7	chr18:9826000-9835200	Weak transcription	Brain Anterior Caudate	brain
8	chr18:9827800-9837800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr18:9828200-9832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:9828400-9832000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:9828400-9835600	Weak transcription	Fetal Heart	heart
12	chr18:9828400-9838400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr18:9828400-9846000	Weak transcription	Pancreas	Pancrea
14	chr18:9828600-9835000	Weak transcription	Fetal Lung	lung
15	chr18:9828600-9838000	Weak transcription	HSMMtube	muscle
16	chr18:9829000-9832000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:9829000-9833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:9829000-9838000	Weak transcription	HSMM	muscle
19	chr18:9829000-9841600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:9829000-9845200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:9829000-9848200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:9829400-9832000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:9829400-9833800	Weak transcription	NHLF	lung
24	chr18:9829400-9838000	Weak transcription	NH-A	brain
25	chr18:9829600-9832200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:9829600-9835000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:9829600-9838800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr18:9829600-9846600	Weak transcription	NHDF-Ad	bronchial
29	chr18:9829800-9832200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr18:9829800-9834600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:9829800-9834800	Weak transcription	NHEK	skin
32	chr18:9829800-9835200	Weak transcription	HMEC	breast
33	chr18:9830200-9832000	Enhancers	Fetal Intestine Large	intestine
34	chr18:9830200-9832200	Enhancers	Fetal Intestine Small	intestine
35	chr18:9830400-9839400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:9830800-9832200	Enhancers	Brain Substantia Nigra	brain
37	chr18:9830800-9832200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr18:9831200-9832000	Enhancers	Right Ventricle	heart
39	chr18:9831200-9832200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr18:9831200-9832200	Enhancers	Stomach Smooth Muscle	stomach
41	chr18:9831200-9832400	Enhancers	Fetal Muscle Leg	muscle
42	chr18:9831200-9832400	Enhancers	Placenta	Placenta
43	chr18:9831200-9847200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr18:9831400-9832200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr18:9831400-9832200	Enhancers	Right Atrium	heart
46	chr18:9831400-9832400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:9831400-9832400	Enhancers	Fetal Muscle Trunk	muscle
48	chr18:9831400-9832800	Genic enhancers	Spleen	Spleen
49	chr18:9831400-9833400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr18:9831400-9833400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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