Variant report

Variant	rs13383364
Chromosome Location	chr2:48542932-48542933
allele	C/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48541852..48543622-chr2:48550647..48553258,3	MCF-7	breast:
2	chr2:48010207..48012260-chr2:48541505..48544232,2	K562	blood:
3	chr2:48542620..48544627-chr2:48553697..48556453,2	K562	blood:
4	chr2:48342619..48344591-chr2:48541998..48544325,2	K562	blood:
5	chr2:48542159..48543116-chr6:26158101..26158766,2	Hela-S3	cervix:
6	chr2:48492137..48494411-chr2:48542775..48545328,2	K562	blood:
7	chr2:48542112..48544368-chr2:48660786..48663458,2	MCF-7	breast:
8	chr2:48133540..48135075-chr2:48540885..48543276,2	K562	blood:
9	chr2:48347369..48349943-chr2:48542903..48544986,2	MCF-7	breast:
10	chr2:48341598..48344591-chr2:48542825..48544946,2	K562	blood:
11	chr2:48338111..48338870-chr2:48542374..48543073,2	MCF-7	breast:
12	chr2:48540805..48543133-chr2:48691336..48694309,2	K562	blood:
13	chr2:48540677..48543829-chr2:48665802..48669252,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162869	Chromatin interaction
ENSG00000272663	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000116062	Chromatin interaction
ENSG00000233230	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10153773	0.83[ASN][1000 genomes]
rs10174717	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10180295	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10186237	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10193072	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10199431	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10208124	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11676168	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11682044	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11690690	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12616792	0.86[ASN][1000 genomes]
rs12713008	0.86[ASN][1000 genomes]
rs12713009	0.86[ASN][1000 genomes]
rs13385535	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13386751	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13387171	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13388291	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13426834	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13432998	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2471405	0.84[ASN][1000 genomes]
rs28806843	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28841370	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4290706	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4411759	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4547573	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4641990	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56352447	0.95[ASN][1000 genomes]
rs57668696	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58660534	0.88[ASN][1000 genomes]
rs59264464	0.92[ASN][1000 genomes]
rs59412192	0.92[ASN][1000 genomes]
rs59761994	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60677957	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62136987	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137001	0.88[ASN][1000 genomes]
rs62137002	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137003	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137005	0.88[ASN][1000 genomes]
rs62137006	0.88[ASN][1000 genomes]
rs62137007	0.88[ASN][1000 genomes]
rs62137008	0.85[ASN][1000 genomes]
rs62137009	0.85[ASN][1000 genomes]
rs62138801	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6545027	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545028	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545029	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545030	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545034	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545035	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545036	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6712029	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743757	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6757206	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72818493	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72820405	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72887649	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7340322	0.87[ASN][1000 genomes]
rs7562069	0.81[AMR][1000 genomes]
rs7562816	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7568960	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574125	0.81[ASN][1000 genomes]
rs7600794	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7606104	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9309152	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48540200-48543000	Active TSS	Thymus	Thymus
2	chr2:48540600-48543400	Active TSS	Aorta	Aorta
3	chr2:48540600-48543400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:48540600-48543400	Active TSS	Psoas Muscle	Psoas
5	chr2:48540600-48543600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:48540600-48543600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:48540600-48544000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:48540600-48544200	Active TSS	Brain Angular Gyrus	brain
9	chr2:48540600-48544600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:48540600-48547400	Active TSS	GM12878-XiMat	blood
11	chr2:48540800-48543000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:48540800-48543000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr2:48540800-48543000	Active TSS	Duodenum Mucosa	Duodenum
14	chr2:48540800-48543000	Active TSS	Placenta	Placenta
15	chr2:48540800-48543200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:48540800-48543200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr2:48540800-48543200	Active TSS	Fetal Lung	lung
18	chr2:48540800-48543400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:48540800-48543600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:48540800-48543600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:48540800-48543600	Active TSS	Brain Anterior Caudate	brain
22	chr2:48540800-48543600	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:48540800-48543600	Active TSS	Brain Hippocampus Middle	brain
24	chr2:48540800-48543600	Active TSS	Fetal Intestine Large	intestine
25	chr2:48540800-48543600	Active TSS	Fetal Muscle Leg	muscle
26	chr2:48540800-48543600	Active TSS	HSMMtube	muscle
27	chr2:48540800-48543600	Active TSS	NHDF-Ad	bronchial
28	chr2:48540800-48544000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:48540800-48544200	Active TSS	NHLF	lung
30	chr2:48541000-48543000	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr2:48541000-48543000	Active TSS	Primary B cells from peripheral blood	blood
32	chr2:48541000-48543000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr2:48541000-48543000	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:48541000-48543200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr2:48541000-48543200	Active TSS	Fetal Brain Male	brain
36	chr2:48541000-48543200	Active TSS	Fetal Kidney	kidney
37	chr2:48541000-48543200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr2:48541000-48543400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:48541000-48543400	Active TSS	Colon Smooth Muscle	Colon
40	chr2:48541000-48543400	Active TSS	Fetal Muscle Trunk	muscle
41	chr2:48541000-48543400	Active TSS	Ovary	ovary
42	chr2:48541000-48543400	Active TSS	HSMM	muscle
43	chr2:48541000-48543600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:48541000-48543600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr2:48541000-48543600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr2:48541000-48543600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:48541000-48543600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:48541000-48543600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:48541000-48543600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:48541000-48543600	Active TSS	Brain Substantia Nigra	brain

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