Variant report

Variant	rs45631650
Chromosome Location	chr19:19637308-19637309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19635664-19637963	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:19637197-19637382	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:19635647-19637845	K562	blood:	n/a	n/a
4	POLR2A	chr19:19636885-19637815	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:19636614-19637865	K562	blood:	n/a	n/a
6	POLR2A	chr19:19636047-19637468	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:19635901-19637757	GM12878	blood:	n/a	n/a
8	CTCF	chr19:19637280-19637430	GM12874	blood:	n/a	n/a
9	POLR2A	chr19:19636417-19637310	HL-60	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19626407..19628421-chr19:19634732..19637865,3	MCF-7	breast:
2	chr19:19429347..19431568-chr19:19636736..19638979,2	K562	blood:
3	chr19:19612809..19614414-chr19:19636712..19638687,2	K562	blood:
4	chr19:19634659..19637641-chr19:19737482..19739194,2	MCF-7	breast:
5	chr19:19636166..19641062-chr19:19772143..19775843,4	MCF-7	breast:
6	chr19:19616065..19618186-chr19:19636353..19638464,2	MCF-7	breast:
7	chr19:19635157..19637400-chr19:19754505..19756149,2	K562	blood:

No data

Variant related genes	Relation type
YJEFN3	TF binding region
ENSG00000105705	Chromatin interaction
ENSG00000064547	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000186010	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28713238	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36045507	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3794992	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription 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	67 gene(s)	inside rSNPs	diseases
4	nsv911307	chr19:19631655-19657143	Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911308	chr19:19631655-19663850	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19628000-19638000	Weak transcription	Fetal Lung	lung
2	chr19:19628000-19640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:19628200-19642800	Weak transcription	Stomach Mucosa	stomach
4	chr19:19628200-19643000	Weak transcription	HUVEC	blood vessel
5	chr19:19628400-19639200	Weak transcription	Psoas Muscle	Psoas
6	chr19:19628400-19640800	Weak transcription	HMEC	breast
7	chr19:19628400-19642800	Weak transcription	Hela-S3	cervix
8	chr19:19629000-19638600	Weak transcription	HepG2	liver
9	chr19:19629000-19643600	Weak transcription	Small Intestine	intestine
10	chr19:19630400-19639200	Weak transcription	Fetal Brain Male	brain
11	chr19:19630400-19643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:19630600-19642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:19630600-19651800	Weak transcription	A549	lung
14	chr19:19630800-19639200	Weak transcription	Brain Substantia Nigra	brain
15	chr19:19630800-19642800	Weak transcription	NHEK	skin
16	chr19:19630800-19643000	Weak transcription	NHDF-Ad	bronchial
17	chr19:19631000-19647800	Weak transcription	HSMMtube	muscle
18	chr19:19632000-19637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:19632000-19638000	Weak transcription	NH-A	brain
20	chr19:19632000-19638200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:19632000-19638600	Weak transcription	Osteobl	bone
22	chr19:19632000-19640800	Weak transcription	HSMM	muscle
23	chr19:19633600-19640800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr19:19633800-19638800	Genic enhancers	Fetal Thymus	thymus
25	chr19:19633800-19639200	Strong transcription	Fetal Stomach	stomach
26	chr19:19633800-19640600	Strong transcription	Liver	Liver
27	chr19:19633800-19641000	Strong transcription	Thymus	Thymus
28	chr19:19634000-19639000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:19634000-19643000	Strong transcription	Fetal Intestine Small	intestine
30	chr19:19634200-19639400	Strong transcription	Fetal Intestine Large	intestine
31	chr19:19634200-19640200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr19:19634200-19641000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:19634400-19638600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:19634400-19640600	Strong transcription	Lung	lung
35	chr19:19634400-19640800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:19634400-19643000	Weak transcription	K562	blood
37	chr19:19634600-19638800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:19634600-19639200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:19634600-19640800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:19634800-19638200	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr19:19634800-19638600	Genic enhancers	Right Ventricle	heart
42	chr19:19634800-19639200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:19634800-19639200	Strong transcription	Ovary	ovary
44	chr19:19634800-19639400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:19634800-19640600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:19634800-19640800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:19634800-19641000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:19634800-19641000	Strong transcription	Gastric	stomach
49	chr19:19634800-19641000	Strong transcription	Dnd41	blood
50	chr19:19634800-19642000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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