Variant report

Variant	rs527748587
Chromosome Location	chr18:9743642-9743643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9743400..9743997-chr22:39916154..39916657,2	Hela-S3	cervix:
2	chr18:9743211..9744889-chr18:9877031..9879316,2	K562	blood:
3	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
4	chr18:9742662..9744377-chr18:9770072..9773067,3	K562	blood:
5	chr18:9741875..9744095-chr18:9783769..9785460,2	K562	blood:
6	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
7	chr18:9707781..9712452-chr18:9739628..9745256,6	K562	blood:
8	chr18:9742561..9744290-chr18:9751696..9753226,2	MCF-7	breast:
9	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
10	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:
11	chr18:9742066..9744058-chr18:9912319..9915888,3	K562	blood:
12	chr18:9731963..9738554-chr18:9740350..9745076,12	MCF-7	breast:
13	chr18:9658659..9661626-chr18:9743254..9745822,2	K562	blood:
14	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
15	chr18:9742128..9744122-chr18:9913987..9916976,3	MCF-7	breast:
16	chr18:9742614..9745446-chr18:9869217..9871460,2	K562	blood:
17	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
18	chr18:9578277..9581617-chr18:9743011..9745983,3	K562	blood:
19	chr18:9740906..9743732-chr18:9749016..9751277,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000128272	Chromatin interaction
ENSG00000266891	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000266127	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv9606	chr18:9743017-9755287	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757669	chr18:9743326-9753992	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv2758712	chr18:9743326-9753992	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9738000-9744000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:9738200-9743800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr18:9738200-9746000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr18:9739800-9744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:9740000-9744200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:9740600-9744000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:9740800-9744000	Enhancers	Placenta	Placenta
8	chr18:9740800-9744400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:9741000-9744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:9741400-9744000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:9741400-9744000	Enhancers	Esophagus	oesophagus
12	chr18:9741400-9744000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr18:9741400-9744400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr18:9741400-9744400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:9741400-9744400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr18:9741400-9744400	Enhancers	HSMM	muscle
17	chr18:9741600-9744000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:9741600-9744200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr18:9741600-9744400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr18:9741800-9743800	Enhancers	Small Intestine	intestine
21	chr18:9741800-9744200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr18:9741800-9744200	Enhancers	NHLF	lung
23	chr18:9741800-9744400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:9741800-9744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:9741800-9744400	Enhancers	HMEC	breast
26	chr18:9741800-9744600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr18:9741800-9744800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:9742000-9744200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr18:9742000-9744400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr18:9742000-9744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr18:9742200-9744000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr18:9742200-9746600	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:9742400-9744000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:9742400-9744000	Flanking Active TSS	K562	blood
35	chr18:9742600-9743800	Enhancers	Fetal Muscle Trunk	muscle
36	chr18:9742600-9743800	Enhancers	Hela-S3	cervix
37	chr18:9742600-9744000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:9742600-9744000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr18:9742600-9744800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr18:9742600-9750000	Weak transcription	Spleen	Spleen
41	chr18:9742800-9744000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr18:9742800-9749800	Weak transcription	Fetal Muscle Leg	muscle
43	chr18:9742800-9754400	Weak transcription	Right Ventricle	heart
44	chr18:9743000-9744000	Enhancers	Brain Angular Gyrus	brain
45	chr18:9743000-9744000	Enhancers	Fetal Lung	lung
46	chr18:9743000-9744000	Flanking Active TSS	HepG2	liver
47	chr18:9743000-9744200	Enhancers	Primary B cells from cord blood	blood
48	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:9743200-9743800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr18:9743200-9743800	Enhancers	Stomach Smooth Muscle	stomach

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