Variant report

Variant	rs4151619
Chromosome Location	chr13:49049029-49049030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs4151550	1.00[YRI][hapmap]
rs4151570	1.00[YRI][hapmap]
rs4151630	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561450	0.86[AFR][1000 genomes]
rs6561451	0.86[AFR][1000 genomes]
rs6561454	0.86[AFR][1000 genomes]
rs7317090	0.86[AFR][1000 genomes]
rs7321483	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7322265	0.86[AFR][1000 genomes]
rs7322855	0.86[AFR][1000 genomes]
rs7332828	0.86[AFR][1000 genomes]
rs7334590	0.86[AFR][1000 genomes]
rs7984753	0.86[AFR][1000 genomes]
rs7988909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7989808	0.90[AFR][1000 genomes]
rs9331963	0.86[AFR][1000 genomes]
rs9331967	0.86[AFR][1000 genomes]
rs9331992	0.86[AFR][1000 genomes]
rs9332004	0.86[AFR][1000 genomes]
rs9332006	0.86[AFR][1000 genomes]
rs9332020	0.90[AFR][1000 genomes]
rs9332023	0.90[AFR][1000 genomes]
rs9332024	0.90[AFR][1000 genomes]
rs9332027	0.90[AFR][1000 genomes]
rs9332039	0.90[AFR][1000 genomes]
rs9332041	0.90[AFR][1000 genomes]
rs9332047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332052	1.00[AMR][1000 genomes]
rs9332074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332077	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332081	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49017400-49062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:49018000-49062400	Weak transcription	Fetal Brain Male	brain
3	chr13:49020800-49062000	Weak transcription	Fetal Kidney	kidney
4	chr13:49021200-49058600	Weak transcription	Hela-S3	cervix
5	chr13:49023800-49061000	Weak transcription	Small Intestine	intestine
6	chr13:49023800-49073800	Weak transcription	NH-A	brain
7	chr13:49024000-49059000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:49025600-49056800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
10	chr13:49027600-49049200	Weak transcription	A549	lung
11	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:49029200-49062000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:49029400-49052400	Weak transcription	K562	blood
14	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:49031600-49049600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:49031600-49055800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:49031600-49066200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:49031800-49052000	Weak transcription	HepG2	liver
19	chr13:49031800-49052600	Weak transcription	Placenta	Placenta
20	chr13:49031800-49059200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:49031800-49060200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:49031800-49060600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:49031800-49065400	Weak transcription	Brain Substantia Nigra	brain
24	chr13:49032000-49050800	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:49032000-49065600	Weak transcription	Brain Anterior Caudate	brain
26	chr13:49032000-49066200	Weak transcription	Colonic Mucosa	Colon
27	chr13:49032200-49053400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:49032200-49054000	Weak transcription	Aorta	Aorta
29	chr13:49032200-49056000	Weak transcription	Brain Germinal Matrix	brain
30	chr13:49032400-49052600	Weak transcription	NHLF	lung
31	chr13:49032400-49053000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:49032400-49062600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:49032400-49066200	Weak transcription	Spleen	Spleen
34	chr13:49032400-49066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:49032400-49066600	Weak transcription	Ovary	ovary
36	chr13:49032400-49067400	Weak transcription	Pancreas	Pancrea
37	chr13:49032400-49067600	Weak transcription	Gastric	stomach
38	chr13:49032600-49051600	Weak transcription	HMEC	breast
39	chr13:49032600-49055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:49032800-49066200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr13:49034400-49073800	Weak transcription	Esophagus	oesophagus
42	chr13:49035200-49073400	Weak transcription	Fetal Intestine Small	intestine
43	chr13:49035400-49052800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:49035600-49052000	Weak transcription	Liver	Liver
45	chr13:49035600-49052800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:49035600-49053400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:49035600-49065400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr13:49035600-49066000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr13:49035800-49050600	Weak transcription	Adipose Nuclei	Adipose
50	chr13:49035800-49052600	Weak transcription	Brain Angular Gyrus	brain

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