Variant report

Variant	rs9304044
Chromosome Location	chr18:9760942-9760943
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9758423..9760981-chr18:9826062..9828845,2	K562	blood:
2	chr18:9759772..9764672-chr18:9769252..9773319,4	K562	blood:
3	chr18:9754934..9759602-chr18:9760680..9767118,9	K562	blood:
4	chr18:9758137..9761113-chr18:9763805..9765767,2	MCF-7	breast:
5	chr18:9585625..9588458-chr18:9758333..9761056,3	K562	blood:
6	chr18:9758648..9761617-chr18:9769198..9772101,2	MCF-7	breast:
7	chr18:9754564..9758028-chr18:9758607..9762547,4	K562	blood:
8	chr18:9744137..9746832-chr18:9760873..9762598,2	K562	blood:
9	chr18:9758150..9760333-chr18:9760676..9763029,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266541	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1031555	0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1031556	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1031558	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs8086753	0.85[CHB][hapmap]
rs8099036	0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9750200-9771400	Weak transcription	Brain Angular Gyrus	brain
2	chr18:9750800-9764000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr18:9751000-9762200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr18:9752200-9766000	Weak transcription	Ovary	ovary
5	chr18:9754200-9761200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:9754200-9763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:9755800-9770600	Weak transcription	Aorta	Aorta
8	chr18:9756000-9764000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:9756200-9771200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr18:9756800-9761200	Weak transcription	Adipose Nuclei	Adipose
11	chr18:9757600-9762000	Weak transcription	Primary B cells from cord blood	blood
12	chr18:9757800-9771400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:9758000-9764200	Weak transcription	Brain Substantia Nigra	brain
14	chr18:9758200-9761400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:9758600-9764000	Weak transcription	Brain Anterior Caudate	brain
16	chr18:9758600-9764200	Weak transcription	Lung	lung
17	chr18:9758600-9765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:9758600-9765400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr18:9758600-9765400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr18:9758600-9785000	Weak transcription	Left Ventricle	heart
21	chr18:9758800-9761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:9758800-9761200	Weak transcription	Fetal Stomach	stomach
23	chr18:9758800-9761400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr18:9758800-9765600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:9758800-9766000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:9758800-9770600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:9758800-9771400	Weak transcription	NHEK	skin
28	chr18:9758800-9781400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:9759000-9762400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:9759000-9763800	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:9759000-9763800	Weak transcription	Osteobl	bone
32	chr18:9759000-9764000	Weak transcription	NHDF-Ad	bronchial
33	chr18:9759000-9764200	Weak transcription	Spleen	Spleen
34	chr18:9759000-9766000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:9759000-9770400	Weak transcription	A549	lung
36	chr18:9759000-9771200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:9759000-9782000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:9759000-9785200	Weak transcription	HSMM	muscle
39	chr18:9759200-9766200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:9759200-9769800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:9759400-9761400	Weak transcription	Fetal Thymus	thymus
42	chr18:9759400-9761800	Weak transcription	Placenta	Placenta
43	chr18:9759400-9765800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr18:9759400-9766000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:9759600-9762200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:9759800-9762200	Weak transcription	K562	blood
47	chr18:9760000-9762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:9760000-9766400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr18:9760200-9762400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr18:9760400-9761000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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