Variant report

Variant	rs9327098
Chromosome Location	chr5:118647926-118647927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118322721..118325566-chr5:118647562..118649989,2	K562	blood:
2	chr5:118635852..118637512-chr5:118646502..118648651,2	K562	blood:
3	chr5:118646030..118648702-chr5:118654405..118658630,4	K562	blood:
4	chr5:118647069..118648702-chr5:118653056..118655905,2	K562	blood:

Variant related genes	Relation type
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10053596	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035376	1.00[CHB][hapmap]
rs10463467	0.86[EUR][1000 genomes]
rs1422012	0.93[EUR][1000 genomes]
rs1504979	0.93[EUR][1000 genomes]
rs1553543	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17385858	1.00[CHB][hapmap]
rs2112323	1.00[CHB][hapmap]
rs4895188	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865343	0.94[EUR][1000 genomes]
rs6876958	1.00[CHB][hapmap]
rs6877317	0.91[EUR][1000 genomes]
rs6878373	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6879919	1.00[CHB][hapmap]
rs6884614	1.00[EUR][1000 genomes]
rs6884625	0.95[EUR][1000 genomes]
rs888771	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs888772	1.00[CHB][hapmap]
rs9327095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs999275	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:118639200-118657200	Weak transcription	Lung	lung
5	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
7	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:118641200-118649000	Weak transcription	NHLF	lung
13	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:118641800-118649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
16	chr5:118642000-118648800	Weak transcription	Hela-S3	cervix
17	chr5:118644200-118648800	Weak transcription	A549	lung
18	chr5:118644400-118649400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
20	chr5:118644800-118648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:118645000-118649000	Weak transcription	Fetal Lung	lung
22	chr5:118645000-118650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:118645000-118651200	Weak transcription	NH-A	brain
24	chr5:118645200-118649600	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:118645200-118649600	Weak transcription	Placenta	Placenta
26	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:118645400-118652000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr5:118645400-118652000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:118645600-118648800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:118645600-118649800	Weak transcription	Right Atrium	heart
31	chr5:118645800-118648000	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr5:118645800-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:118646000-118650000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:118646000-118651400	Enhancers	Thymus	Thymus
36	chr5:118646000-118653400	Weak transcription	Spleen	Spleen
37	chr5:118646000-118657200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:118646200-118649000	Enhancers	Primary T cells from cord blood	blood
39	chr5:118646200-118649800	Enhancers	GM12878-XiMat	blood
40	chr5:118646200-118651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:118646200-118653400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:118646400-118649600	Weak transcription	Fetal Stomach	stomach
43	chr5:118646400-118651000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:118646400-118657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:118646600-118648000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:118646600-118648400	Enhancers	Primary B cells from cord blood	blood
47	chr5:118646600-118650600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:118646600-118651200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:118646600-118656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum

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