Variant report

Variant	rs889223
Chromosome Location	chr5:95146369-95146370
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95129490..95131493-chr5:95145014..95147003,2	K562	blood:
2	chr5:95145254..95146894-chr5:95156475..95158183,2	K562	blood:
3	chr5:95141198..95143249-chr5:95146319..95147835,2	K562	blood:

Variant related genes	Relation type
ENSG00000173221	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10041927	1.00[AMR][1000 genomes]
rs10051654	1.00[AMR][1000 genomes]
rs10071673	1.00[AMR][1000 genomes]
rs10076138	1.00[AMR][1000 genomes]
rs10077822	1.00[AMR][1000 genomes]
rs10476543	1.00[AMR][1000 genomes]
rs17085065	1.00[AMR][1000 genomes]
rs17085067	1.00[AMR][1000 genomes]
rs17085087	1.00[AMR][1000 genomes]
rs17085092	1.00[AMR][1000 genomes]
rs17085131	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085324	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17085331	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2161314	1.00[AFR][1000 genomes]
rs28469700	1.00[AMR][1000 genomes]
rs28927968	1.00[AMR][1000 genomes]
rs28927970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28927976	1.00[AFR][1000 genomes]
rs29000874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs29000875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56727798	1.00[AMR][1000 genomes]
rs57696954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58023885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58796894	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
6	chr5:95130000-95157400	Weak transcription	Ovary	ovary
7	chr5:95133600-95147800	Weak transcription	K562	blood
8	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
9	chr5:95142800-95148000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:95143000-95148600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:95143200-95147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:95143200-95148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
14	chr5:95143400-95148000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr5:95143600-95146600	Enhancers	Fetal Stomach	stomach
16	chr5:95143600-95146800	Enhancers	Colonic Mucosa	Colon
17	chr5:95143600-95147000	Enhancers	Small Intestine	intestine
18	chr5:95143600-95147800	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:95143800-95146600	Enhancers	Placenta	Placenta
20	chr5:95143800-95146800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:95143800-95147200	Enhancers	Stomach Mucosa	stomach
22	chr5:95143800-95147800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:95143800-95147800	Enhancers	Fetal Intestine Large	intestine
24	chr5:95143800-95148400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:95143800-95149600	Enhancers	Fetal Lung	lung
26	chr5:95144000-95146600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:95144000-95146800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr5:95144200-95146800	Enhancers	NH-A	brain
29	chr5:95144200-95147000	Enhancers	NHLF	lung
30	chr5:95144200-95147200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:95144200-95147600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:95144200-95147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:95144200-95147800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:95144200-95147800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:95144200-95148000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:95144200-95150400	Weak transcription	Hela-S3	cervix
37	chr5:95144400-95146600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:95144400-95146800	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:95144400-95147800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:95144600-95146600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:95144600-95146800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:95144600-95146800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr5:95144600-95147600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:95144600-95147800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:95144600-95148600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:95144600-95149000	Enhancers	Left Ventricle	heart
47	chr5:95144600-95151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:95144800-95146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:95144800-95146600	Enhancers	Liver	Liver
50	chr5:95144800-95147000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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