Variant report

Variant	rs59849895
Chromosome Location	chr19:39354503-39354504
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39326842..39329688-chr19:39354177..39355882,2	K562	blood:
2	chr19:39338783..39344716-chr19:39351762..39356757,15	MCF-7	breast:
3	chr19:39339531..39344833-chr19:39351137..39354995,9	K562	blood:
4	chr19:39339063..39344846-chr19:39351660..39355862,7	MCF-7	breast:
5	chr19:39341098..39344560-chr19:39351786..39356667,5	K562	blood:
6	chr19:39328430..39329992-chr19:39354096..39356995,2	MCF-7	breast:
7	chr19:39327808..39329688-chr19:39353305..39355677,2	K562	blood:

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11083487	1.00[ASN][1000 genomes]
rs11883010	1.00[EUR][1000 genomes]
rs12977453	1.00[ASN][1000 genomes]
rs13343573	1.00[ASN][1000 genomes]
rs17883664	1.00[ASN][1000 genomes]
rs2082436	1.00[ASN][1000 genomes]
rs28808414	1.00[ASN][1000 genomes]
rs28824318	1.00[ASN][1000 genomes]
rs28844707	1.00[ASN][1000 genomes]
rs45535036	1.00[ASN][1000 genomes]
rs58399999	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60311832	1.00[EUR][1000 genomes]
rs60524963	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61194027	1.00[ASN][1000 genomes]
rs61347610	1.00[ASN][1000 genomes]
rs6508826	1.00[ASN][1000 genomes]
rs6508827	1.00[ASN][1000 genomes]
rs73537679	0.85[AMR][1000 genomes]
rs73537681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113749	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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911673	chr19:39335274-39365401	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39343600-39359800	Weak transcription	Small Intestine	intestine
2	chr19:39344200-39356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39348600-39355400	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:39348600-39359600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:39348800-39355000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:39349000-39355000	Weak transcription	Primary T cells from cord blood	blood
7	chr19:39349000-39355400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:39349400-39359800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:39350800-39354600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:39352000-39355000	Enhancers	Primary B cells from cord blood	blood
11	chr19:39352400-39355400	Enhancers	Fetal Muscle Leg	muscle
12	chr19:39352400-39356600	Enhancers	Fetal Muscle Trunk	muscle
13	chr19:39352400-39357000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:39352800-39357200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:39353000-39355000	Enhancers	GM12878-XiMat	blood
16	chr19:39353200-39358000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:39353400-39355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:39353400-39355000	Weak transcription	Fetal Thymus	thymus
19	chr19:39353400-39357800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr19:39353400-39359600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:39353400-39363800	Weak transcription	HSMMtube	muscle
22	chr19:39353600-39355000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:39353600-39355000	Weak transcription	A549	lung
24	chr19:39353600-39355200	Weak transcription	HepG2	liver
25	chr19:39353600-39356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:39353600-39356600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:39353600-39356600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:39353600-39357000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr19:39353600-39359200	Weak transcription	Esophagus	oesophagus
30	chr19:39353600-39359600	Weak transcription	Liver	Liver
31	chr19:39353600-39359600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:39353600-39359800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:39353600-39359800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:39353600-39359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:39353600-39359800	Weak transcription	Colonic Mucosa	Colon
36	chr19:39353600-39359800	Weak transcription	Fetal Lung	lung
37	chr19:39353600-39359800	Weak transcription	Lung	lung
38	chr19:39353800-39355000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr19:39353800-39355200	Weak transcription	Pancreas	Pancrea
40	chr19:39353800-39355200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:39353800-39357000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr19:39354000-39355000	Weak transcription	Hela-S3	cervix
43	chr19:39354000-39355000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:39354000-39355200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr19:39354000-39355200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:39354000-39355200	Weak transcription	Fetal Intestine Small	intestine
47	chr19:39354000-39355200	Weak transcription	Stomach Mucosa	stomach
48	chr19:39354000-39355200	Weak transcription	Spleen	Spleen
49	chr19:39354000-39355600	Weak transcription	Fetal Intestine Large	intestine
50	chr19:39354000-39356800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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