Variant report

Variant	rs6449599
Chromosome Location	chr5:61775087-61775088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61730501..61733292-chr5:61772580..61775158,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11544796	1.00[AMR][1000 genomes]
rs13347319	1.00[AMR][1000 genomes]
rs57547851	1.00[AMR][1000 genomes]
rs58260058	1.00[AMR][1000 genomes]
rs59475513	1.00[AMR][1000 genomes]
rs6880262	1.00[AMR][1000 genomes]
rs6894930	1.00[AMR][1000 genomes]
rs73104085	1.00[AMR][1000 genomes]
rs73105924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105940	1.00[AMR][1000 genomes]
rs73108016	1.00[AMR][1000 genomes]
rs73108066	1.00[AMR][1000 genomes]
rs73108081	1.00[AMR][1000 genomes]
rs73108086	1.00[AMR][1000 genomes]
rs73110021	1.00[AMR][1000 genomes]
rs73110026	1.00[AMR][1000 genomes]
rs73119531	1.00[AMR][1000 genomes]
rs9764843	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv881730	chr5:61750667-61883581	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
3	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:61730000-61834200	Weak transcription	Gastric	stomach
5	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
9	chr5:61746200-61783600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:61748000-61794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
12	chr5:61748600-61784400	Weak transcription	Lung	lung
13	chr5:61748600-61787000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:61749000-61786200	Weak transcription	Brain Anterior Caudate	brain
15	chr5:61749400-61779400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:61750600-61785200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:61750600-61786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:61757600-61792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
20	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
21	chr5:61759800-61790000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:61760600-61781400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:61762200-61776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:61763400-61799400	Weak transcription	Fetal Heart	heart
26	chr5:61763800-61809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
28	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
29	chr5:61764200-61780000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:61764200-61781200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:61764200-61781400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:61764200-61781400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:61764200-61784600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:61764200-61786200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:61764200-61786200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:61764200-61787000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:61764200-61794800	Weak transcription	Left Ventricle	heart
38	chr5:61764200-61796400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:61764200-61798800	Weak transcription	Spleen	Spleen
40	chr5:61764200-61818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:61764200-61821200	Weak transcription	Aorta	Aorta
42	chr5:61764200-61826600	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:61764200-61827000	Weak transcription	Thymus	Thymus
44	chr5:61764200-61830000	Weak transcription	Brain Angular Gyrus	brain
45	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
46	chr5:61764400-61781200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:61764400-61781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:61764400-61792400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:61764400-61796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:61764400-61801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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