Variant report

Variant	rs2972966
Chromosome Location	chr5:89692490-89692491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89688512..89690490-chr5:89692215..89693760,2	K562	blood:
2	chr5:89689507..89693206-chr5:89701477..89705408,4	K562	blood:
3	chr5:89687750..89693019-chr5:89703408..89707388,5	MCF-7	breast:
4	chr5:89691057..89693186-chr5:90677649..90680418,2	K562	blood:
5	chr5:89692010..89694672-chr5:89703669..89707949,4	MCF-7	breast:
6	chr5:89682943..89685520-chr5:89689655..89692563,2	K562	blood:
7	chr5:89692368..89694837-chr5:89697217..89700527,3	K562	blood:
8	chr5:89665829..89668334-chr5:89692394..89695020,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153140	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000260871	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10054133	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10473933	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10474325	0.93[EUR][1000 genomes]
rs11744529	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11953190	0.90[EUR][1000 genomes]
rs2115501	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2914673	1.00[JPT][hapmap]
rs2963695	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2963696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3112538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs35113527	0.95[ASN][1000 genomes]
rs35869007	0.90[ASN][1000 genomes]
rs4129345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131978	0.93[EUR][1000 genomes]
rs57443165	0.88[EUR][1000 genomes]
rs6884579	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs72781070	0.93[EUR][1000 genomes]
rs72781074	0.88[EUR][1000 genomes]
rs7700312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][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	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89681600-89704600	Weak transcription	Aorta	Aorta
2	chr5:89683000-89694200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:89683400-89703800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:89683600-89697600	Weak transcription	Left Ventricle	heart
5	chr5:89684400-89693400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:89686000-89704400	Weak transcription	Psoas Muscle	Psoas
7	chr5:89686200-89694000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:89686400-89694200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:89686400-89704400	Weak transcription	Small Intestine	intestine
10	chr5:89686600-89693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:89686600-89693800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:89686600-89694600	Weak transcription	Primary T cells from cord blood	blood
13	chr5:89686600-89704200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:89686800-89692800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:89686800-89693400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:89686800-89693800	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:89686800-89694200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:89686800-89704400	Weak transcription	Fetal Kidney	kidney
19	chr5:89687000-89693800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:89687000-89693800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:89687000-89694000	Weak transcription	Fetal Lung	lung
22	chr5:89687000-89694200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:89687000-89704400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:89687000-89704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:89687000-89704600	Weak transcription	Fetal Stomach	stomach
26	chr5:89687200-89693400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:89687200-89694000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:89687200-89694400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:89687200-89698200	Weak transcription	NHEK	skin
30	chr5:89687200-89698400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:89687200-89703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:89687200-89704400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:89687200-89704400	Weak transcription	Thymus	Thymus
34	chr5:89687200-89704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:89687200-89704600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:89687400-89693800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:89687400-89693800	Weak transcription	Placenta	Placenta
38	chr5:89687400-89699800	Weak transcription	HSMM	muscle
39	chr5:89687400-89702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:89687400-89704600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:89687600-89693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:89687600-89693200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:89687600-89693600	Weak transcription	K562	blood
44	chr5:89687600-89694000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:89687600-89694400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:89687600-89694600	Weak transcription	Pancreas	Pancrea
47	chr5:89687600-89697800	Weak transcription	Esophagus	oesophagus
48	chr5:89687600-89702400	Weak transcription	NH-A	brain
49	chr5:89688000-89694000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:89688200-89694200	Weak transcription	HMEC	breast

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