Variant report

Variant	rs4808975
Chromosome Location	chr19:19754149-19754150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19751893..19756920-chr19:19758472..19762276,9	K562	blood:
2	chr19:19736821..19742043-chr19:19751528..19755876,8	MCF-7	breast:
3	chr19:19649879..19653588-chr19:19753029..19755939,4	K562	blood:
4	chr19:19751259..19758144-chr19:19770384..19776332,14	K562	blood:
5	chr19:19753162..19754752-chr19:19769276..19770855,2	MCF-7	breast:
6	chr19:19752450..19756333-chr19:19763709..19769200,7	K562	blood:
7	chr19:19729600..19731507-chr19:19752222..19754293,3	K562	blood:
8	chr19:19753961..19756109-chr19:19770427..19773007,2	MCF-7	breast:
9	chr19:19753534..19755355-chr19:19771479..19774786,3	MCF-7	breast:
10	chr19:19664938..19665562-chr19:19753334..19754218,2	MCF-7	breast:
11	chr19:19751259..19757786-chr19:19771999..19776232,8	K562	blood:
12	chr19:19752883..19756107-chr19:19759212..19764518,8	MCF-7	breast:
13	chr19:19625550..19627956-chr19:19752305..19756076,5	MCF-7	breast:
14	chr19:19752144..19756505-chr19:19773208..19775858,7	MCF-7	breast:
15	chr19:19637478..19643205-chr19:19752988..19755970,5	MCF-7	breast:
16	chr19:19647280..19649688-chr19:19752870..19754432,2	MCF-7	breast:
17	chr19:19650697..19653588-chr19:19753029..19754860,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186010	Chromatin interaction
ENSG00000250067	Chromatin interaction
ENSG00000064547	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000105717	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000258674	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2288865	0.82[EUR][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	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
2	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
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19752600-19754400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:19753000-19754200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:19753000-19754400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:19753200-19754200	Flanking Active TSS	Colonic Mucosa	Colon
5	chr19:19753200-19754400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr19:19753200-19754600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr19:19753200-19754600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:19753200-19754600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:19753200-19754600	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr19:19753200-19754600	Active TSS	NHEK	skin
11	chr19:19753200-19754800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:19753200-19754800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:19753200-19754800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr19:19753200-19754800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:19753200-19754800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:19753200-19754800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:19753200-19754800	Active TSS	Esophagus	oesophagus
18	chr19:19753200-19754800	Active TSS	Rectal Smooth Muscle	rectum
19	chr19:19753200-19755000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr19:19753400-19754400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr19:19753400-19754400	Active TSS	Small Intestine	intestine
22	chr19:19753400-19754400	Active TSS	Spleen	Spleen
23	chr19:19753400-19754400	Active TSS	NHLF	lung
24	chr19:19753400-19754600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:19753400-19754600	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr19:19753400-19754600	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr19:19753400-19754600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr19:19753400-19754600	Active TSS	GM12878-XiMat	blood
29	chr19:19753400-19754600	Active TSS	HSMM	muscle
30	chr19:19753400-19754600	Active TSS	NHDF-Ad	bronchial
31	chr19:19753400-19754600	Active TSS	Osteobl	bone
32	chr19:19753400-19754800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr19:19753400-19754800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:19753400-19754800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:19753400-19754800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr19:19753400-19754800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:19753400-19754800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:19753400-19754800	Flanking Active TSS	Placenta	Placenta
39	chr19:19753400-19754800	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr19:19753400-19754800	Active TSS	A549	lung
41	chr19:19753400-19754800	Active TSS	HSMMtube	muscle
42	chr19:19753400-19754800	Active TSS	K562	blood
43	chr19:19753400-19755000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:19753400-19755000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr19:19753600-19754200	Enhancers	Fetal Heart	heart
46	chr19:19753600-19754400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr19:19753600-19754400	Active TSS	HMEC	breast
48	chr19:19753600-19754400	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr19:19753600-19754600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:19753600-19754600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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