Variant report

Variant	rs61408162
Chromosome Location	chr5:179042400-179042401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179040431..179043437-chr5:179125236..179127869,3	K562	blood:
2	chr5:178976811..178980871-chr5:179039605..179043375,3	K562	blood:

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10479544	0.84[ASN][1000 genomes]
rs11958537	0.82[ASN][1000 genomes]
rs12188476	1.00[ASN][1000 genomes]
rs12514650	0.88[ASN][1000 genomes]
rs12518041	1.00[ASN][1000 genomes]
rs12519803	1.00[ASN][1000 genomes]
rs17355294	1.00[ASN][1000 genomes]
rs28533619	0.83[ASN][1000 genomes]
rs4128628	1.00[ASN][1000 genomes]
rs4128629	1.00[ASN][1000 genomes]
rs4535419	1.00[ASN][1000 genomes]
rs4701133	0.83[ASN][1000 genomes]
rs55696570	0.85[ASN][1000 genomes]
rs55741920	0.85[ASN][1000 genomes]
rs55821473	1.00[ASN][1000 genomes]
rs55837909	0.82[ASN][1000 genomes]
rs56198018	0.83[ASN][1000 genomes]
rs56370020	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58788190	1.00[ASN][1000 genomes]
rs60104959	1.00[ASN][1000 genomes]
rs62392796	0.88[ASN][1000 genomes]
rs6874476	0.85[ASN][1000 genomes]
rs72824554	1.00[ASN][1000 genomes]
rs7442819	0.95[ASN][1000 genomes]
rs7706115	0.83[ASN][1000 genomes]
rs7710813	0.83[ASN][1000 genomes]
rs7715391	0.84[ASN][1000 genomes]
rs7732888	0.81[ASN][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	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
2	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
4	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr5:179013800-179044800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:179014000-179044400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:179016200-179045000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr5:179025200-179045000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:179028200-179046200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:179028400-179046000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:179028600-179046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:179028800-179045000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr5:179029200-179045600	Strong transcription	Primary B cells from cord blood	blood
18	chr5:179031000-179045600	Strong transcription	Osteobl	bone
19	chr5:179031000-179046200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:179032200-179045800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:179032400-179045600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr5:179032800-179045000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:179033600-179046000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
27	chr5:179034600-179043000	Weak transcription	Right Atrium	heart
28	chr5:179035000-179043000	Strong transcription	NH-A	brain
29	chr5:179035200-179044400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:179035200-179045200	Strong transcription	Fetal Brain Female	brain
31	chr5:179035400-179043200	Strong transcription	GM12878-XiMat	blood
32	chr5:179035600-179043000	Strong transcription	Dnd41	blood
33	chr5:179035600-179043400	Strong transcription	Hela-S3	cervix
34	chr5:179035600-179045000	Strong transcription	Brain Substantia Nigra	brain
35	chr5:179035600-179045000	Strong transcription	Thymus	Thymus
36	chr5:179035600-179045200	Strong transcription	Brain Hippocampus Middle	brain
37	chr5:179035800-179043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:179035800-179046200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr5:179036000-179042600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:179036000-179043000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:179036000-179045200	Strong transcription	NHEK	skin
42	chr5:179036000-179046000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:179036200-179042800	Strong transcription	Brain Cingulate Gyrus	brain
44	chr5:179036200-179043000	Strong transcription	Brain Germinal Matrix	brain
45	chr5:179036200-179045200	Strong transcription	Brain Angular Gyrus	brain
46	chr5:179036400-179042400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:179036400-179042400	Strong transcription	HUVEC	blood vessel
48	chr5:179036400-179044800	Strong transcription	HMEC	breast
49	chr5:179036400-179046200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:179036600-179042800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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