Variant report

Variant	rs8104050
Chromosome Location	chr19:53446717-53446718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:53446711-53446868	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:53426133..53428140-chr19:53445241..53446971,2	K562	blood:
2	chr19:53426133..53428640-chr19:53444456..53447019,4	K562	blood:
3	chr19:52641745..52643247-chr19:53444441..53446806,2	MCF-7	breast:

Variant related genes	Relation type
ZNF816-ZNF321P	TF binding region
ZNF816	TF binding region
ENSG00000213793	Chromatin interaction
ENSG00000204611	Chromatin interaction
ENSG00000269646	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59729078	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv912318	chr19:53118278-53451291	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432072	chr19:53144788-53554388	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv3401212	chr19:53151131-53482063	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv912321	chr19:53186836-53451291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1058903	chr19:53193570-53489633	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1067280	chr19:53193570-53567287	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv544062	chr19:53193570-53567287	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
10	nsv580030	chr19:53194344-53547394	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1057118	chr19:53195426-53480449	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv912323	chr19:53249347-53451291	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	esv3431689	chr19:53291230-53483998	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv912330	chr19:53317001-53478109	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv1064234	chr19:53346827-53480449	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
18	nsv963071	chr19:53401720-53480869	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
20	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53444000-53447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:53444200-53446800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:53444600-53446800	Active TSS	Fetal Kidney	kidney
4	chr19:53444800-53446800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:53444800-53446800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:53444800-53446800	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:53444800-53446800	Active TSS	GM12878-XiMat	blood
8	chr19:53445000-53446800	Active TSS	Brain Cingulate Gyrus	brain
9	chr19:53445000-53446800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr19:53445000-53446800	Active TSS	Thymus	Thymus
11	chr19:53445000-53446800	Active TSS	HSMMtube	muscle
12	chr19:53445200-53446800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:53445200-53446800	Active TSS	Ovary	ovary
14	chr19:53445200-53446800	Active TSS	NHLF	lung
15	chr19:53445200-53447000	Active TSS	Primary T cells from cord blood	blood
16	chr19:53445400-53446800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:53445400-53446800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr19:53445600-53446800	Active TSS	HUVEC	blood vessel
19	chr19:53445600-53447000	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr19:53445800-53446800	Active TSS	Brain Germinal Matrix	brain
21	chr19:53446000-53446800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr19:53446000-53447000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:53446000-53447000	Flanking Active TSS	Placenta	Placenta
24	chr19:53446000-53447000	Flanking Active TSS	Dnd41	blood
25	chr19:53446000-53447600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:53446200-53446800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:53446200-53446800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:53446200-53446800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:53446200-53446800	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr19:53446200-53446800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr19:53446200-53446800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:53446200-53446800	Flanking Active TSS	Osteobl	bone
33	chr19:53446200-53447000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr19:53446200-53447000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:53446400-53446800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:53446400-53446800	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr19:53446400-53446800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr19:53446400-53447000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:53446400-53447000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:53446400-53447000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:53446400-53447000	Enhancers	Fetal Brain Male	brain
42	chr19:53446400-53447000	Enhancers	Lung	lung
43	chr19:53446400-53447000	Enhancers	Pancreas	Pancrea
44	chr19:53446400-53447600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:53446400-53447600	Weak transcription	Esophagus	oesophagus
46	chr19:53446400-53448000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:53446400-53448200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:53446400-53448400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:53446400-53449200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:53446400-53449200	Enhancers	Stomach Mucosa	stomach

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