Variant report

Variant	rs16868636
Chromosome Location	chr5:89702241-89702242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89680507..89687450-chr5:89698366..89705754,8	MCF-7	breast:
2	chr5:89701553..89708894-chr5:89768084..89771807,14	K562	blood:
3	chr5:89700626..89703101-chr5:108745991..108748143,2	K562	blood:
4	chr5:89695237..89698064-chr5:89699685..89702781,3	K562	blood:
5	chr5:89701624..89708275-chr5:89936212..89939090,6	K562	blood:
6	chr5:89700975..89703312-chr5:89824839..89827243,2	K562	blood:

Variant related genes	Relation type
ENSG00000176055	Chromatin interaction
ENSG00000176018	Chromatin interaction
ENSG00000260871	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000113356	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16868773	1.00[EUR][1000 genomes]
rs16868780	1.00[EUR][1000 genomes]
rs16868793	1.00[EUR][1000 genomes]
rs16868831	1.00[EUR][1000 genomes]
rs16868887	1.00[EUR][1000 genomes]
rs6452889	1.00[EUR][1000 genomes]
rs7721819	1.00[EUR][1000 genomes]
rs7730907	1.00[TSI][hapmap]

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	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv882363	chr5:89643399-89725515	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr5:89681600-89704600	Weak transcription	Aorta	Aorta
2	chr5:89683400-89703800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:89686000-89704400	Weak transcription	Psoas Muscle	Psoas
4	chr5:89686400-89704400	Weak transcription	Small Intestine	intestine
5	chr5:89686600-89704200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:89686800-89704400	Weak transcription	Fetal Kidney	kidney
7	chr5:89687000-89704400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:89687000-89704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:89687000-89704600	Weak transcription	Fetal Stomach	stomach
10	chr5:89687200-89703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:89687200-89704400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:89687200-89704400	Weak transcription	Thymus	Thymus
13	chr5:89687200-89704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:89687200-89704600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:89687400-89702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:89687400-89704600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:89687600-89702400	Weak transcription	NH-A	brain
18	chr5:89688200-89704400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:89688400-89702600	Weak transcription	A549	lung
20	chr5:89688400-89704400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:89689000-89704400	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:89689000-89704400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:89690600-89704800	Weak transcription	Ovary	ovary
24	chr5:89691400-89704600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:89691800-89704600	Weak transcription	Fetal Brain Male	brain
26	chr5:89693200-89704400	Weak transcription	Colonic Mucosa	Colon
27	chr5:89693200-89704400	Weak transcription	Fetal Intestine Small	intestine
28	chr5:89693200-89704400	Weak transcription	Right Ventricle	heart
29	chr5:89693200-89704600	Weak transcription	Brain Germinal Matrix	brain
30	chr5:89693200-89704600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:89693400-89703600	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:89693600-89704600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:89693600-89704800	Weak transcription	Lung	lung
34	chr5:89694800-89704200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:89694800-89704400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:89694800-89704400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:89694800-89704600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:89694800-89704600	Weak transcription	Pancreas	Pancrea
39	chr5:89694800-89704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:89694800-89704600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:89695000-89703600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:89695000-89704200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:89695000-89704400	Weak transcription	Fetal Intestine Large	intestine
44	chr5:89695000-89704600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:89695000-89704600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:89695200-89703200	Weak transcription	HUVEC	blood vessel
47	chr5:89695200-89704200	Weak transcription	Brain Substantia Nigra	brain
48	chr5:89695400-89704400	Weak transcription	Adipose Nuclei	Adipose
49	chr5:89695800-89702600	Weak transcription	Primary T cells from cord blood	blood
50	chr5:89695800-89704400	Weak transcription	Primary hematopoietic stem cells	blood

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