Variant report

Variant	rs45535036
Chromosome Location	chr19:39384148-39384149
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39339763..39342872-chr19:39383611..39385304,3	K562	blood:
2	chr19:39340139..39342549-chr19:39383529..39386442,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11083487	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977453	1.00[ASN][1000 genomes]
rs13343573	1.00[ASN][1000 genomes]
rs17883664	0.90[EUR][1000 genomes];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]
rs59849895	1.00[ASN][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]
rs73537681	1.00[ASN][1000 genomes]
rs8113749	1.00[ASN][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	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	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39368800-39386400	Genic enhancers	Fetal Muscle Trunk	muscle
2	chr19:39369000-39386400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:39369200-39389200	Weak transcription	A549	lung
4	chr19:39369400-39388800	Weak transcription	Stomach Mucosa	stomach
5	chr19:39370000-39385800	Strong transcription	Fetal Stomach	stomach
6	chr19:39371600-39389800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:39372400-39388800	Weak transcription	Fetal Kidney	kidney
8	chr19:39377200-39388600	Weak transcription	K562	blood
9	chr19:39377400-39386600	Strong transcription	Fetal Intestine Small	intestine
10	chr19:39377800-39386400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr19:39378400-39386200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:39378600-39384400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr19:39378600-39384600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr19:39378600-39385200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:39378800-39384800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:39378800-39385200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:39378800-39385200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:39378800-39385400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:39378800-39386200	Strong transcription	Fetal Intestine Large	intestine
20	chr19:39379200-39384200	Strong transcription	Placenta	Placenta
21	chr19:39379200-39386000	Strong transcription	Fetal Brain Female	brain
22	chr19:39379400-39386400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr19:39379800-39385200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:39379800-39388600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:39379800-39389000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:39380000-39388400	Weak transcription	HMEC	breast
27	chr19:39380000-39388800	Weak transcription	NHDF-Ad	bronchial
28	chr19:39380000-39389400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:39380000-39389400	Weak transcription	NH-A	brain
30	chr19:39380200-39388800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:39380200-39389000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:39380200-39389000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:39380200-39389000	Weak transcription	HUVEC	blood vessel
34	chr19:39380200-39389000	Weak transcription	Osteobl	bone
35	chr19:39380400-39388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:39380400-39388800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:39380400-39388800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:39380400-39389000	Weak transcription	Small Intestine	intestine
39	chr19:39380600-39387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:39380600-39388600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:39380600-39388800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:39380600-39389000	Weak transcription	Colonic Mucosa	Colon
43	chr19:39380800-39384400	Genic enhancers	Brain Hippocampus Middle	brain
44	chr19:39380800-39388200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:39381000-39388600	Weak transcription	Pancreas	Pancrea
46	chr19:39381200-39388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:39381200-39388600	Weak transcription	NHLF	lung
48	chr19:39381200-39389000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:39381400-39389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:39381600-39387800	Weak transcription	HepG2	liver

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