Variant report

Variant	rs60446438
Chromosome Location	chr2:209148488-209148489
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209131018..209132806-chr2:209148294..209150467,2	K562	blood:

Variant related genes	Relation type
ENSG00000115020	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10171006	0.90[ASN][1000 genomes]
rs10173938	0.88[ASN][1000 genomes]
rs10176626	0.85[ASN][1000 genomes]
rs10189031	0.85[ASN][1000 genomes]
rs10197958	0.86[ASN][1000 genomes]
rs10201702	0.90[ASN][1000 genomes]
rs10208004	0.93[ASN][1000 genomes]
rs10804168	0.90[ASN][1000 genomes]
rs10932256	0.90[ASN][1000 genomes]
rs10932259	0.90[ASN][1000 genomes]
rs10932260	0.85[ASN][1000 genomes]
rs11677618	0.93[ASN][1000 genomes]
rs11691208	0.90[ASN][1000 genomes]
rs11691313	0.90[ASN][1000 genomes]
rs12479282	0.93[ASN][1000 genomes]
rs12623816	0.90[ASN][1000 genomes]
rs12694105	0.93[ASN][1000 genomes]
rs1370370	0.90[ASN][1000 genomes]
rs1584200	0.88[ASN][1000 genomes]
rs16840798	0.88[AFR][1000 genomes]
rs16840898	0.90[ASN][1000 genomes]
rs16840910	0.90[ASN][1000 genomes]
rs16840936	0.90[ASN][1000 genomes]
rs16841092	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1900239	0.85[ASN][1000 genomes]
rs2196604	0.82[ASN][1000 genomes]
rs2363465	0.82[ASN][1000 genomes]
rs2363466	0.88[ASN][1000 genomes]
rs2885786	0.88[ASN][1000 genomes]
rs4673390	0.93[ASN][1000 genomes]
rs4673391	0.88[ASN][1000 genomes]
rs4673392	0.88[ASN][1000 genomes]
rs4673393	0.85[ASN][1000 genomes]
rs4673395	0.90[ASN][1000 genomes]
rs4675748	0.85[ASN][1000 genomes]
rs4675750	0.90[ASN][1000 genomes]
rs4675751	0.85[ASN][1000 genomes]
rs57797425	0.90[ASN][1000 genomes]
rs60916150	1.00[AMR][1000 genomes]
rs6435441	0.90[ASN][1000 genomes]
rs6435443	0.90[ASN][1000 genomes]
rs6708926	0.90[ASN][1000 genomes]
rs6711933	0.90[ASN][1000 genomes]
rs6724208	0.85[ASN][1000 genomes]
rs6733607	0.90[ASN][1000 genomes]
rs6736599	0.85[ASN][1000 genomes]
rs6742461	0.90[ASN][1000 genomes]
rs73983713	1.00[AMR][1000 genomes]
rs73983727	0.97[ASN][1000 genomes]
rs7569723	0.90[ASN][1000 genomes]
rs7574324	0.90[ASN][1000 genomes]
rs7581075	0.90[ASN][1000 genomes]
rs7587752	0.85[ASN][1000 genomes]
rs893256	0.90[ASN][1000 genomes]
rs9283521	0.90[ASN][1000 genomes]
rs9288392	0.85[ASN][1000 genomes]
rs934712	0.90[ASN][1000 genomes]
rs934714	0.90[ASN][1000 genomes]
rs959855	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:209134600-209149000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:209135200-209148800	Strong transcription	Dnd41	blood
4	chr2:209135800-209149000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:209135800-209150400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:209136000-209149200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:209136000-209149200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:209136000-209149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:209136200-209148600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:209136200-209148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:209136200-209148600	Strong transcription	Liver	Liver
14	chr2:209136200-209148600	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:209136200-209148600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:209136200-209148800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr2:209136200-209149000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:209136200-209155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:209136200-209155000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:209137600-209148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:209137800-209148600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:209137800-209148600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:209137800-209149000	Strong transcription	A549	lung
25	chr2:209137800-209155000	Strong transcription	Fetal Intestine Large	intestine
26	chr2:209138000-209148800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:209138000-209149200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:209138000-209149200	Strong transcription	HepG2	liver
29	chr2:209138000-209155600	Strong transcription	Thymus	Thymus
30	chr2:209138200-209148600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:209139000-209155000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
33	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
34	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
35	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:209140400-209148600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:209140400-209148600	Strong transcription	Fetal Lung	lung
38	chr2:209140400-209148600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:209141000-209149200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
42	chr2:209143400-209152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:209143800-209150400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:209143800-209152800	Weak transcription	Fetal Heart	heart
45	chr2:209143800-209154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:209143800-209154800	Weak transcription	Brain Germinal Matrix	brain
47	chr2:209144000-209153600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:209144000-209154400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:209144400-209148600	Strong transcription	Primary B cells from cord blood	blood
50	chr2:209144600-209148600	Strong transcription	Brain Angular Gyrus	brain

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