Variant report

Variant	rs13394505
Chromosome Location	chr2:152134145-152134146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152132818..152134386-chr2:152140305..152143217,3	K562	blood:
2	chr2:152132701..152134318-chr2:152139892..152142395,2	K562	blood:
3	chr2:152129670..152132113-chr2:152134070..152136723,2	K562	blood:
4	chr2:152133078..152134805-chr2:152145568..152147333,2	K562	blood:

Variant related genes	Relation type
ENSG00000123609	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10173695	1.00[AMR][1000 genomes]
rs10179626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180428	1.00[AMR][1000 genomes]
rs10190464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191465	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201647	1.00[AMR][1000 genomes]
rs10202368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10203338	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210009	1.00[AMR][1000 genomes]
rs12328054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385932	1.00[AMR][1000 genomes]
rs13387765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389056	1.00[AMR][1000 genomes]
rs13389461	1.00[AMR][1000 genomes]
rs13390792	1.00[AMR][1000 genomes]
rs13395395	1.00[AMR][1000 genomes]
rs13395749	1.00[AMR][1000 genomes]
rs13399299	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412493	1.00[AMR][1000 genomes]
rs13412781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417120	1.00[AMR][1000 genomes]
rs13418019	1.00[AMR][1000 genomes]
rs13418799	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423692	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2303341	1.00[AMR][1000 genomes]
rs28445248	1.00[AMR][1000 genomes]
rs28493579	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529741	1.00[AMR][1000 genomes]
rs3771899	1.00[AMR][1000 genomes]
rs56801020	1.00[AMR][1000 genomes]
rs59089077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59356545	1.00[AMR][1000 genomes]
rs6719796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6724871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9989812	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152118600-152142800	Weak transcription	Small Intestine	intestine
2	chr2:152118800-152144000	Weak transcription	Stomach Mucosa	stomach
3	chr2:152118800-152144200	Weak transcription	Psoas Muscle	Psoas
4	chr2:152119000-152134200	Weak transcription	NHLF	lung
5	chr2:152119000-152137000	Weak transcription	Osteobl	bone
6	chr2:152119000-152145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:152119000-152145200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:152119000-152145200	Weak transcription	NHEK	skin
9	chr2:152119000-152145800	Weak transcription	HSMM	muscle
10	chr2:152119400-152138200	Weak transcription	Hela-S3	cervix
11	chr2:152119400-152142800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:152119400-152144400	Weak transcription	A549	lung
13	chr2:152119400-152144800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:152119400-152145200	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:152121200-152138000	Weak transcription	K562	blood
16	chr2:152121200-152145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:152121200-152145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:152124400-152138400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:152124600-152139200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:152125200-152145400	Weak transcription	Aorta	Aorta
21	chr2:152125800-152139200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:152125800-152145200	Weak transcription	Right Ventricle	heart
23	chr2:152126000-152139200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:152126200-152139200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:152126200-152139200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:152126200-152139200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:152126200-152139400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:152126200-152139400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:152126200-152139400	Strong transcription	Placenta	Placenta
30	chr2:152126200-152139800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:152126200-152141200	Strong transcription	Dnd41	blood
32	chr2:152126400-152136400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:152126400-152139200	Strong transcription	Primary T cells from cord blood	blood
34	chr2:152126400-152139200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:152126400-152139200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:152126400-152139200	Strong transcription	Adipose Nuclei	Adipose
37	chr2:152126400-152139400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:152126400-152139400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:152126400-152139400	Strong transcription	Liver	Liver
40	chr2:152126400-152139400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:152126400-152139400	Strong transcription	Fetal Thymus	thymus
42	chr2:152126400-152139600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:152126400-152139600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:152126800-152139400	Strong transcription	Primary B cells from cord blood	blood
45	chr2:152126800-152145200	Weak transcription	HMEC	breast
46	chr2:152126800-152145600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:152127000-152145400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:152127200-152134400	Weak transcription	Left Ventricle	heart
49	chr2:152127800-152134200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:152128000-152144600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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