Variant report

Variant	rs543394238
Chromosome Location	chr18:9744269-9744270
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9743211..9744889-chr18:9877031..9879316,2	K562	blood:
2	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
3	chr18:9742662..9744377-chr18:9770072..9773067,3	K562	blood:
4	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
5	chr18:9744137..9746832-chr18:9760873..9762598,2	K562	blood:
6	chr18:9707781..9712452-chr18:9739628..9745256,6	K562	blood:
7	chr18:9742561..9744290-chr18:9751696..9753226,2	MCF-7	breast:
8	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
9	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:
10	chr18:9731963..9738554-chr18:9740350..9745076,12	MCF-7	breast:
11	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:
12	chr18:9658659..9661626-chr18:9743254..9745822,2	K562	blood:
13	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
14	chr18:9742614..9745446-chr18:9869217..9871460,2	K562	blood:
15	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
16	chr18:9578277..9581617-chr18:9743011..9745983,3	K562	blood:
17	chr18:9743764..9745565-chr18:9913039..9915568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000266891	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9738200-9746000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr18:9740800-9744400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:9741400-9744400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr18:9741400-9744400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:9741400-9744400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr18:9741400-9744400	Enhancers	HSMM	muscle
7	chr18:9741600-9744400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr18:9741800-9744400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:9741800-9744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:9741800-9744400	Enhancers	HMEC	breast
11	chr18:9741800-9744600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr18:9741800-9744800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr18:9742000-9744400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr18:9742000-9744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:9742200-9746600	Weak transcription	Colon Smooth Muscle	Colon
16	chr18:9742600-9744800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:9742600-9750000	Weak transcription	Spleen	Spleen
18	chr18:9742800-9749800	Weak transcription	Fetal Muscle Leg	muscle
19	chr18:9742800-9754400	Weak transcription	Right Ventricle	heart
20	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:9743200-9744400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr18:9743200-9744400	Flanking Active TSS	A549	lung
23	chr18:9743200-9744400	Enhancers	NHEK	skin
24	chr18:9743200-9745000	Weak transcription	Fetal Intestine Small	intestine
25	chr18:9743200-9750200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr18:9743400-9754800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:9743600-9744400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:9743600-9744400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:9743600-9744400	Enhancers	NH-A	brain
30	chr18:9743600-9755400	Weak transcription	Fetal Stomach	stomach
31	chr18:9743800-9744400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr18:9743800-9744400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr18:9743800-9745800	Weak transcription	Small Intestine	intestine
34	chr18:9743800-9747200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:9743800-9750000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr18:9744000-9744400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:9744000-9744400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:9744000-9744400	Enhancers	Fetal Kidney	kidney
39	chr18:9744000-9744400	Enhancers	HSMMtube	muscle
40	chr18:9744000-9744400	Enhancers	HUVEC	blood vessel
41	chr18:9744000-9744400	Enhancers	K562	blood
42	chr18:9744000-9744400	Enhancers	NHDF-Ad	bronchial
43	chr18:9744000-9744600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr18:9744000-9744600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:9744000-9744600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:9744000-9749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:9744000-9749200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr18:9744000-9749800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr18:9744000-9749800	Weak transcription	Brain Angular Gyrus	brain
50	chr18:9744000-9749800	Weak transcription	Brain Substantia Nigra	brain

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