Variant report

Variant	rs28367100
Chromosome Location	chr19:18683795-18683796
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18683522-18683988	K562	blood:	n/a	n/a
2	POLR2A	chr19:18683323-18684665	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:18683346-18684438	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:18681493-18689919	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:18683523-18684235	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:18681679-18684916	K562	blood:	n/a	n/a
7	POLR2A	chr19:18681529-18684361	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr19:18682214-18684490	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:18683507-18684196	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:18683401-18684199	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:18683466-18684199	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:18683628-18683947	HepG2	liver:	n/a	n/a
13	HEY1	chr19:18682124-18684557	K562	blood:	n/a	n/a
14	POLR2A	chr19:18683432-18684317	U87	brain:	n/a	n/a
15	POLR2A	chr19:18683788-18684208	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr19:18683525-18684194	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:18683180-18683984	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr19:18683571-18684098	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:18683411-18684380	GM12891	blood:	n/a	n/a
20	POLR2A	chr19:18681665-18684916	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr19:18682044-18684587	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:18683492-18684552	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr19:18683549-18683812	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr19:18683753-18684361	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:18683752-18684140	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:18683371-18684311	GM12891	blood:	n/a	n/a
27	POLR2A	chr19:18682123-18684768	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:18683694-18684247	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr19:18682206-18684305	IMR90	lung:	n/a	n/a
30	WRNIP1	chr19:18682911-18683833	GM12878	blood:	n/a	n/a
31	RUNX3	chr19:18683643-18684092	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:18683432-18684068	U87	brain:	n/a	n/a
33	MXI1	chr19:18681959-18684218	IMR90	lung:	n/a	chr19:18682519-18682528
34	POLR2A	chr19:18683615-18684129	K562	blood:	n/a	n/a
35	POLR2A	chr19:18682114-18684802	K562	blood:	n/a	n/a
36	POLR2A	chr19:18683406-18684688	HL-60	blood:	n/a	n/a
37	HEY1	chr19:18683514-18684249	K562	blood:	n/a	n/a
38	POLR2A	chr19:18681589-18684803	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr19:18683471-18684275	GM12891	blood:	n/a	n/a
40	POLR2A	chr19:18682135-18683873	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr19:18683584-18684074	MCF-7	breast:	n/a	n/a
42	HCFC1	chr19:18682134-18684243	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr19:18682004-18684809	GM12892	blood:	n/a	n/a
44	POLR2A	chr19:18683539-18684306	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:18682063-18684808	GM12878	blood:	n/a	n/a
46	MAX	chr19:18683769-18684165	K562	blood:	n/a	n/a
47	MXI1	chr19:18681892-18683975	SK-N-SH	brain:	n/a	chr19:18682519-18682528

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18631257..18635225-chr19:18680941..18684038,5	MCF-7	breast:
2	chr19:18629832..18635572-chr19:18680910..18686315,11	K562	blood:
3	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
4	chr19:18682401..18684687-chr19:18702171..18705609,4	MCF-7	breast:
5	chr19:18666965..18674770-chr19:18676405..18685095,25	K562	blood:
6	chr19:18678376..18688390-chr19:18697032..18707656,34	K562	blood:
7	chr19:18671310..18673503-chr19:18682435..18684299,2	MCF-7	breast:
8	chr19:18682727..18684348-chr19:18724724..18727000,2	MCF-7	breast:
9	chr19:18586402..18589298-chr19:18680966..18684505,3	K562	blood:
10	chr19:18653470..18656783-chr19:18680897..18684291,6	K562	blood:
11	chr19:18682067..18684109-chr19:19302288..19304450,2	K562	blood:
12	chr19:18681104..18684544-chr19:18745683..18749906,4	K562	blood:
13	chr19:18667097..18671007-chr19:18677068..18684435,17	K562	blood:
14	chr19:18666812..18670172-chr19:18680715..18684041,6	MCF-7	breast:
15	chr19:18628801..18634367-chr19:18680492..18684131,12	MCF-7	breast:
16	chr19:18629832..18634516-chr19:18680910..18685097,11	K562	blood:
17	chr19:18681312..18685117-chr19:18698049..18701447,5	MCF-7	breast:
18	chr19:18651038..18656783-chr19:18680897..18685521,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268983	TF binding region
UBA52	TF binding region
ENSG00000254901	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000213999	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10404080	1.00[AMR][1000 genomes]
rs10412458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536773	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41293611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57050736	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
7	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr19:18682000-18683800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:18682200-18683800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:18682600-18684600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:18682800-18683800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr19:18682800-18683800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:18682800-18683800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr19:18682800-18684200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr19:18683000-18683800	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr19:18683000-18683800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr19:18683000-18683800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:18683000-18683800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr19:18683000-18683800	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr19:18683000-18684000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr19:18683000-18684000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr19:18683000-18684000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:18683000-18684200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:18683000-18684200	Flanking Active TSS	Liver	Liver
18	chr19:18683000-18684200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
19	chr19:18683000-18684600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
20	chr19:18683200-18683800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:18683200-18683800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:18683200-18683800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr19:18683200-18683800	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr19:18683200-18683800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:18683200-18683800	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr19:18683200-18683800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr19:18683200-18683800	Flanking Active TSS	Placenta	Placenta
28	chr19:18683200-18683800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr19:18683200-18683800	Flanking Active TSS	Thymus	Thymus
30	chr19:18683200-18683800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr19:18683200-18684000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr19:18683200-18684000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:18683200-18684000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr19:18683200-18684000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr19:18683200-18684000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr19:18683200-18684000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:18683200-18684000	Flanking Active TSS	Colonic Mucosa	Colon
38	chr19:18683200-18684000	Flanking Active TSS	Fetal Heart	heart
39	chr19:18683200-18684000	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr19:18683200-18684000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr19:18683200-18684000	Enhancers	Spleen	Spleen
42	chr19:18683200-18684200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:18683200-18684200	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr19:18683200-18684200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr19:18683200-18684400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr19:18683400-18683800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:18683400-18683800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:18683400-18683800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr19:18683400-18683800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr19:18683400-18683800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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