Variant report

Variant	rs11881832
Chromosome Location	chr19:45405931-45405932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
2	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:45405484-45406292	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:45405620-45409311	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr19:45405457-45408484	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:45405648-45405994	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:45405738-45406353	HL-60	blood:	n/a	n/a
8	POLR2A	chr19:45405444-45406502	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:45405893-45410103	K562	blood:	n/a	n/a
10	POLR2A	chr19:45405687-45406427	HL-60	blood:	n/a	n/a
11	POLR2A	chr19:45405837-45406480	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:45405923-45406385	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:45405322-45406885	K562	blood:	n/a	n/a
14	POLR2A	chr19:45404956-45406400	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr19:45405435-45408468	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:45405814-45406276	K562	blood:	n/a	n/a
17	BCL3	chr19:45405906-45406364	A549	lung:	n/a	n/a
18	POLR2A	chr19:45405899-45406369	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:45405365-45406540	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:45405484-45410277	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:45405673-45406356	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr19:45405769-45406347	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr19:45405672-45406016	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:45405386-45406276	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:45405830-45406093	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:45405446-45408522	GM12892	blood:	n/a	n/a
27	POLR2A	chr19:45405719-45406259	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:45405005-45406393	K562	blood:	n/a	n/a
29	POLR2A	chr19:45405494-45406341	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr19:45405544-45408469	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:45405446..45407479-chr19:45558545..45561751,3	K562	blood:
2	chr19:45404737..45407317-chr19:45408582..45411169,3	MCF-7	breast:
3	chr19:45400598..45402586-chr19:45404857..45407837,2	MCF-7	breast:
4	chr19:45393575..45396068-chr19:45405116..45407648,2	MCF-7	breast:
5	chr19:45404348..45407095-chr19:45456355..45459053,2	K562	blood:
6	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
7	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

No data

Variant related genes	Relation type
APOE	TF binding region
ENSG00000130203	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000267282	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000130204	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1081101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45395800-45407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:45396000-45406200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:45396000-45406200	Strong transcription	Ovary	ovary
4	chr19:45396000-45406400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:45396000-45406400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:45396000-45406400	Strong transcription	Fetal Thymus	thymus
7	chr19:45396000-45406400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr19:45396000-45406600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr19:45396000-45406800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:45396000-45406800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:45396000-45406800	Strong transcription	Fetal Intestine Large	intestine
12	chr19:45396000-45406800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:45396000-45407000	Weak transcription	Stomach Mucosa	stomach
14	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:45396200-45406200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr19:45396200-45406400	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr19:45396200-45406400	Strong transcription	Primary T cells from cord blood	blood
18	chr19:45396200-45406400	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:45396200-45406400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:45396200-45406400	Strong transcription	Esophagus	oesophagus
21	chr19:45396200-45406600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:45396200-45406600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:45396200-45406600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:45396200-45406600	Strong transcription	Brain Hippocampus Middle	brain
25	chr19:45396200-45406600	Strong transcription	Placenta	Placenta
26	chr19:45396200-45406800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:45396200-45406800	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:45396200-45407000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:45396200-45407000	Strong transcription	Fetal Stomach	stomach
30	chr19:45396200-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:45396400-45406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:45396400-45406400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:45396400-45406400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr19:45396400-45406600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:45396400-45406800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:45396400-45406800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:45396400-45406800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:45396400-45407000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr19:45396600-45406200	Strong transcription	NHEK	skin
40	chr19:45396600-45406400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:45396600-45406400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr19:45396600-45406600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:45396600-45406600	Strong transcription	Brain Germinal Matrix	brain
44	chr19:45396600-45406600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:45396600-45406600	Strong transcription	Spleen	Spleen
46	chr19:45396600-45406600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr19:45396600-45406800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:45396600-45406800	Strong transcription	Gastric	stomach
49	chr19:45396600-45406800	Strong transcription	Lung	lung
50	chr19:45396600-45407000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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