Variant report

Variant	rs13165120
Chromosome Location	chr5:52021213-52021214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13153693	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157816	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158962	0.83[AMR][1000 genomes]
rs13160140	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161242	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162384	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13163634	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167330	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168671	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172827	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172960	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175042	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185633	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52019800-52021400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr5:52019800-52021600	Enhancers	Primary T cells from cord blood	blood
3	chr5:52019800-52021600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:52019800-52021600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:52019800-52023400	Enhancers	Hela-S3	cervix
6	chr5:52019800-52023800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:52019800-52024000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:52019800-52025000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:52019800-52025200	Enhancers	Fetal Thymus	thymus
10	chr5:52020000-52021400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:52020000-52021800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:52020000-52022600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:52020000-52023800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:52020000-52023800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:52020000-52025200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:52020200-52021400	Weak transcription	Small Intestine	intestine
17	chr5:52020200-52021600	Enhancers	HMEC	breast
18	chr5:52020200-52022000	Enhancers	Fetal Intestine Large	intestine
19	chr5:52020200-52022400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr5:52020200-52022800	Enhancers	HepG2	liver
21	chr5:52020400-52021600	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:52020400-52022000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:52020400-52022400	Enhancers	Fetal Intestine Small	intestine
24	chr5:52020400-52022800	Enhancers	Thymus	Thymus
25	chr5:52020400-52024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:52020600-52022000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:52020600-52022400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:52020600-52022800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:52020600-52024400	Enhancers	Colon Smooth Muscle	Colon
30	chr5:52020800-52023400	Enhancers	HUVEC	blood vessel
31	chr5:52020800-52023800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:52021000-52021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:52021000-52021600	Enhancers	GM12878-XiMat	blood
34	chr5:52021000-52022000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:52021000-52022000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:52021000-52022000	Enhancers	Stomach Mucosa	stomach
37	chr5:52021000-52022000	Flanking Active TSS	NHEK	skin
38	chr5:52021000-52022200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:52021000-52022600	Enhancers	Fetal Kidney	kidney
40	chr5:52021000-52022800	Flanking Active TSS	Dnd41	blood
41	chr5:52021000-52023000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:52021000-52023200	Enhancers	Stomach Smooth Muscle	stomach
43	chr5:52021000-52023600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:52021000-52024200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:52021200-52021600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:52021200-52022000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr5:52021200-52022000	Enhancers	Fetal Muscle Leg	muscle
48	chr5:52021200-52022000	Enhancers	Pancreas	Pancrea
49	chr5:52021200-52022200	Enhancers	Fetal Stomach	stomach
50	chr5:52021200-52022400	Enhancers	Skeletal Muscle Female	skeletal muscle

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