Variant report

Variant	rs542651027
Chromosome Location	chr18:9744921-9744922
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
2	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
3	chr18:9744137..9746832-chr18:9760873..9762598,2	K562	blood:
4	chr18:9707781..9712452-chr18:9739628..9745256,6	K562	blood:
5	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
6	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:
7	chr18:9731963..9738554-chr18:9740350..9745076,12	MCF-7	breast:
8	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:
9	chr18:9658659..9661626-chr18:9743254..9745822,2	K562	blood:
10	chr18:9742614..9745446-chr18:9869217..9871460,2	K562	blood:
11	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
12	chr18:9578277..9581617-chr18:9743011..9745983,3	K562	blood:
13	chr18:9743764..9745565-chr18:9913039..9915568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000266891	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv828177	chr18:9743875-9754292	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9738200-9746000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr18:9742200-9746600	Weak transcription	Colon Smooth Muscle	Colon
3	chr18:9742600-9750000	Weak transcription	Spleen	Spleen
4	chr18:9742800-9749800	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:9742800-9754400	Weak transcription	Right Ventricle	heart
6	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:9743200-9745000	Weak transcription	Fetal Intestine Small	intestine
8	chr18:9743200-9750200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr18:9743400-9754800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:9743600-9755400	Weak transcription	Fetal Stomach	stomach
11	chr18:9743800-9745800	Weak transcription	Small Intestine	intestine
12	chr18:9743800-9747200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:9743800-9750000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr18:9744000-9749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:9744000-9749200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:9744000-9749800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr18:9744000-9749800	Weak transcription	Brain Angular Gyrus	brain
18	chr18:9744000-9749800	Weak transcription	Brain Substantia Nigra	brain
19	chr18:9744000-9750000	Weak transcription	Brain Anterior Caudate	brain
20	chr18:9744000-9750800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:9744000-9754800	Weak transcription	Aorta	Aorta
22	chr18:9744000-9755400	Weak transcription	Lung	lung
23	chr18:9744000-9755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:9744000-9757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:9744200-9745000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:9744200-9745000	Genic enhancers	Hela-S3	cervix
27	chr18:9744200-9746600	Weak transcription	Osteobl	bone
28	chr18:9744200-9747000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:9744200-9747400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr18:9744200-9749200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:9744200-9754800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr18:9744400-9745000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr18:9744400-9746800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr18:9744400-9749200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:9744400-9749400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:9744400-9750000	Weak transcription	NH-A	brain
37	chr18:9744400-9753200	Weak transcription	NHEK	skin
38	chr18:9744400-9753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:9744400-9753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:9744400-9753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr18:9744400-9755200	Weak transcription	K562	blood
42	chr18:9744400-9755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:9744400-9757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:9744400-9757000	Weak transcription	HSMMtube	muscle
45	chr18:9744400-9757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr18:9744600-9746200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:9744800-9753600	Weak transcription	A549	lung

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