Variant report

Variant	rs62336897
Chromosome Location	chr5:1667773-1667774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1667002..1669598-chr5:1799567..1801652,2	K562	blood:
2	chr5:1667410..1667946-chr5:1763618..1764383,2	MCF-7	breast:
3	chr5:1667066..1668003-chr5:1750732..1751621,2	MCF-7	breast:
4	chr5:1667058..1667975-chr5:2038421..2039188,3	K562	blood:
5	chr5:1667086..1668362-chr5:2038669..2039410,3	MCF-7	breast:
6	chr5:1667067..1667875-chr5:1737581..1738505,2	MCF-7	breast:
7	chr5:1667119..1667843-chr5:1772505..1773334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171421	Chromatin interaction
ENSG00000145494	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1106135	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1106136	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13361527	0.93[ASN][1000 genomes]
rs16882052	0.86[AMR][1000 genomes]
rs16882341	0.82[AMR][1000 genomes]
rs34576087	0.85[AMR][1000 genomes]
rs4551124	0.86[AMR][1000 genomes]
rs56871414	0.86[AMR][1000 genomes]
rs57391336	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59056250	0.82[ASN][1000 genomes]
rs60232939	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62335943	0.86[AMR][1000 genomes]
rs62335953	0.82[AMR][1000 genomes]
rs62335957	0.86[AMR][1000 genomes]
rs62335958	0.86[AMR][1000 genomes]
rs62335959	0.86[AMR][1000 genomes]
rs62336862	0.85[AMR][1000 genomes]
rs62336864	0.86[AMR][1000 genomes]
rs62336869	0.82[AMR][1000 genomes]
rs62336870	0.82[ASN][1000 genomes]
rs62336905	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719246	0.83[ASN][1000 genomes]
rs72719251	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72719272	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs874405	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv880740	chr5:1468287-1671200	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
3	nsv881554	chr5:1468287-1696932	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
4	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
5	nsv881096	chr5:1503610-1671200	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv880788	chr5:1629407-1671200	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv881328	chr5:1637461-1671200	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1016383	chr5:1658338-1775551	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
10	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
11	nsv511296	chr5:1661397-1670369	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3376390	chr5:1666377-1669125	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1666600-1667800	Bivalent Enhancer	Fetal Intestine Small	intestine
2	chr5:1666600-1668000	Active TSS	Right Atrium	heart
3	chr5:1666800-1667800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr5:1666800-1668200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:1666800-1668200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr5:1666800-1668400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr5:1666800-1668400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:1666800-1668400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr5:1667000-1667800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr5:1667000-1667800	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr5:1667000-1667800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr5:1667000-1668000	Enhancers	Lung	lung
13	chr5:1667000-1668200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr5:1667000-1668200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr5:1667000-1668200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:1667000-1668200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr5:1667000-1668400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:1667000-1668400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:1667000-1668400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:1667000-1668400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:1667000-1668400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr5:1667000-1668600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr5:1667000-1668600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:1667000-1668600	Bivalent Enhancer	Placenta	Placenta
25	chr5:1667000-1668800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:1667000-1668800	Enhancers	Gastric	stomach
27	chr5:1667200-1667800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:1667200-1667800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr5:1667200-1667800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr5:1667200-1667800	Active TSS	Right Ventricle	heart
31	chr5:1667200-1667800	Weak transcription	Spleen	Spleen
32	chr5:1667200-1668000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:1667200-1668000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:1667200-1668000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr5:1667200-1668000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:1667200-1668000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr5:1667200-1668000	Bivalent/Poised TSS	Thymus	Thymus
38	chr5:1667200-1668200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:1667200-1668400	Bivalent/Poised TSS	HepG2	liver
40	chr5:1667200-1668600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:1667400-1667800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:1667400-1667800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr5:1667400-1667800	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:1667400-1667800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:1667400-1667800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr5:1667400-1667800	Active TSS	Pancreas	Pancrea
47	chr5:1667400-1668000	Active TSS	Ovary	ovary
48	chr5:1667400-1668200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:1667400-1668200	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr5:1667400-1668400	Active TSS	Brain Inferior Temporal Lobe	brain

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