Variant report

Variant	rs328995
Chromosome Location	chr18:9544173-9544174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9544173..9546289-chr18:9553833..9556141,2	MCF-7	breast:
2	chr18:9538024..9540085-chr18:9542632..9545257,2	K562	blood:
3	chr18:9542915..9545231-chr18:9617108..9619724,2	K562	blood:
4	chr18:9541153..9545740-chr18:9546002..9549579,6	K562	blood:
5	chr18:9534609..9536711-chr18:9542982..9545510,2	K562	blood:

Variant related genes	Relation type
ENSG00000212572	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1787166	1.00[CHB][hapmap]
rs2289684	1.00[CHB][hapmap]
rs329002	0.83[AFR][1000 genomes]
rs329004	0.83[AFR][1000 genomes]
rs329008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329023	1.00[AFR][1000 genomes]
rs329024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs329033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs407530	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs428598	1.00[CHB][hapmap]
rs589559	1.00[CHB][hapmap]
rs599861	0.83[AFR][1000 genomes]
rs633907	0.82[CHB][hapmap]
rs694861	1.00[CEU][hapmap];1.00[CHB][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	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	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
2	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
5	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:9532200-9547600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr18:9534200-9545800	Weak transcription	Hela-S3	cervix
8	chr18:9534600-9546400	Weak transcription	Aorta	Aorta
9	chr18:9534800-9546600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:9534800-9547200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr18:9535200-9547400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:9535200-9556800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:9535800-9544800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:9535800-9546000	Weak transcription	A549	lung
15	chr18:9535800-9547200	Weak transcription	Fetal Heart	heart
16	chr18:9536000-9546200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:9536000-9546200	Weak transcription	Brain Angular Gyrus	brain
18	chr18:9536200-9546400	Weak transcription	Psoas Muscle	Psoas
19	chr18:9536600-9546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr18:9536600-9547200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr18:9536800-9545000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:9536800-9545000	Weak transcription	Brain Anterior Caudate	brain
23	chr18:9536800-9546400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr18:9536800-9546400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:9536800-9546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:9536800-9547000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr18:9536800-9547000	Weak transcription	Pancreas	Pancrea
28	chr18:9536800-9547000	Weak transcription	K562	blood
29	chr18:9536800-9547200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:9536800-9549000	Weak transcription	Small Intestine	intestine
31	chr18:9537000-9544600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:9537000-9544600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:9537000-9544600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:9537000-9545800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:9537200-9544800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:9538000-9545400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr18:9538000-9546200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:9538200-9545800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:9538200-9546200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:9538400-9546000	Weak transcription	Ovary	ovary
41	chr18:9538400-9547200	Weak transcription	Fetal Brain Male	brain
42	chr18:9538800-9545000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr18:9538800-9545800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr18:9538800-9546000	Weak transcription	Colon Smooth Muscle	Colon
45	chr18:9538800-9546200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr18:9538800-9546200	Weak transcription	GM12878-XiMat	blood
47	chr18:9538800-9546800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr18:9539000-9544200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:9539000-9545000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:9539000-9545200	Weak transcription	Right Ventricle	heart

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