Variant report

Variant	rs172931
Chromosome Location	chr18:9498708-9498709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9489185..9491265-chr18:9498184..9499798,2	K562	blood:
2	chr18:9488224..9490685-chr18:9497724..9499684,2	K562	blood:

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

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

rs_ID	r²[population]
rs17508949	1.00[ASW][hapmap]
rs328998	1.00[AFR][1000 genomes]
rs329003	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs329024	1.00[ASW][hapmap]
rs56376849	1.00[AFR][1000 genomes]

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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking 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	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9477000-9514000	Weak transcription	NH-A	brain
2	chr18:9477200-9513800	Weak transcription	HSMM	muscle
3	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
4	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
8	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
11	chr18:9479000-9533600	Weak transcription	Gastric	stomach
12	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:9483000-9513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:9489200-9500400	Weak transcription	Primary B cells from cord blood	blood
15	chr18:9492400-9501400	Weak transcription	Fetal Thymus	thymus
16	chr18:9492600-9499000	Weak transcription	Fetal Intestine Small	intestine
17	chr18:9492600-9514000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:9492800-9503400	Weak transcription	A549	lung
19	chr18:9493000-9499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:9493000-9500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:9493800-9506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:9494200-9501800	Weak transcription	Fetal Lung	lung
23	chr18:9494600-9500200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr18:9494800-9501400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr18:9494800-9501600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:9495000-9499600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr18:9495000-9501400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr18:9495000-9502600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr18:9495000-9503000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr18:9495000-9506000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:9495000-9507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr18:9495000-9518000	Weak transcription	Liver	Liver
33	chr18:9495000-9518000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:9495200-9501600	Weak transcription	Lung	lung
35	chr18:9495200-9504600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr18:9495200-9506200	Weak transcription	Left Ventricle	heart
37	chr18:9495200-9506200	Weak transcription	Psoas Muscle	Psoas
38	chr18:9495200-9508200	Weak transcription	Ovary	ovary
39	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
41	chr18:9495400-9501600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:9495400-9501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr18:9495400-9512800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:9495400-9514000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr18:9495400-9524000	Weak transcription	Spleen	Spleen
46	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr18:9495600-9499800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:9495600-9501600	Weak transcription	Thymus	Thymus
49	chr18:9495800-9503000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr18:9495800-9514000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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