Variant report

Variant	rs328998
Chromosome Location	chr18:9530089-9530090
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	chr18:9528385..9531044-chr18:9532434..9534202,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs172931	1.00[AFR][1000 genomes]
rs17508949	1.00[ASW][hapmap]
rs329003	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[AFR][1000 genomes]
rs329024	1.00[ASW][hapmap]
rs56376849	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
2	chr18:9479000-9533600	Weak transcription	Gastric	stomach
3	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
5	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
8	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
9	chr18:9506800-9532000	Weak transcription	Pancreas	Pancrea
10	chr18:9508000-9531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr18:9508600-9531800	Weak transcription	Small Intestine	intestine
12	chr18:9513200-9534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
14	chr18:9514600-9530200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:9517800-9534000	Weak transcription	NHLF	lung
16	chr18:9518200-9533600	Weak transcription	Brain Substantia Nigra	brain
17	chr18:9518800-9534400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:9520000-9532000	Weak transcription	Colon Smooth Muscle	Colon
19	chr18:9520400-9534800	Weak transcription	Psoas Muscle	Psoas
20	chr18:9521400-9535000	Strong transcription	Fetal Muscle Leg	muscle
21	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
22	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
23	chr18:9521800-9534800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr18:9521800-9540400	Strong transcription	Dnd41	blood
25	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:9522000-9534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:9522000-9538400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr18:9522000-9538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr18:9522200-9530400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:9522200-9536200	Strong transcription	HSMM	muscle
31	chr18:9522200-9539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr18:9522400-9534800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:9522600-9539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
36	chr18:9522800-9531800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:9523400-9535400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:9524000-9531800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr18:9524200-9530400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:9524800-9532000	Weak transcription	Lung	lung
41	chr18:9525000-9530400	Weak transcription	HepG2	liver
42	chr18:9525000-9530600	Weak transcription	Esophagus	oesophagus
43	chr18:9525000-9531000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr18:9525000-9531000	Weak transcription	Spleen	Spleen
45	chr18:9525000-9531200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr18:9525000-9533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:9525200-9530400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr18:9525200-9533600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr18:9525400-9533600	Weak transcription	Brain Angular Gyrus	brain
50	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach

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