Variant report

Variant	rs11882935
Chromosome Location	chr19:53661572-53661573
allele	A/G
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	SIN3AK20	chr19:53661537-53661883	K562	blood:	n/a	n/a
2	E2F6	chr19:53661279-53661732	K562	blood:	n/a	chr19:53661699-53661711 chr19:53661657-53661669
3	SIN3A	chr19:53661050-53661804	H1-hESC	embryonic stem cell:	n/a	chr19:53661388-53661401 chr19:53661385-53661394
4	POLR2A	chr19:53661311-53661883	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:53661553-53662756	K562	blood:	n/a	n/a
6	SIN3AK20	chr19:53661298-53661919	PANC-1	pancreas:	n/a	n/a
7	MAX	chr19:53661305-53661797	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr19:53660843-53663013	SK-N-SH	brain:	n/a	n/a
9	E2F6	chr19:53661279-53661939	H1-hESC	embryonic stem cell:	n/a	chr19:53661699-53661711 chr19:53661657-53661669
10	POLR2A	chr19:53661527-53661913	K562	blood:	n/a	n/a
11	MAX	chr19:53660800-53661924	K562	blood:	n/a	n/a
12	POLR2A	chr19:53661367-53661609	GM12878	blood:	n/a	n/a
13	E2F6	chr19:53661118-53661886	H1-hESC	embryonic stem cell:	n/a	chr19:53661699-53661711 chr19:53661657-53661669
14	MAZ	chr19:53661507-53661798	K562	blood:	n/a	n/a
15	E2F6	chr19:53661280-53661908	K562	blood:	n/a	chr19:53661699-53661711 chr19:53661657-53661669
16	POLR2A	chr19:53661284-53662558	GM12892	blood:	n/a	n/a
17	MAX	chr19:53661287-53661789	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr19:53661309-53661955	IMR90	lung:	n/a	n/a
19	ZBTB7A	chr19:53661451-53661788	K562	blood:	n/a	n/a
20	MAX	chr19:53661401-53661916	SK-N-SH	brain:	n/a	n/a
21	E2F6	chr19:53660892-53662524	K562	blood:	n/a	chr19:53661699-53661711 chr19:53662447-53662461 chr19:53662317-53662326 chr19:53661657-53661669 chr19:53662352-53662362 chr19:53662348-53662357
22	MXI1	chr19:53660595-53661969	IMR90	lung:	n/a	n/a
23	MAX	chr19:53661076-53661909	K562	blood:	n/a	n/a
24	MAX	chr19:53661394-53661821	SK-N-SH	brain:	n/a	n/a
25	MAX	chr19:53661373-53661922	K562	blood:	n/a	n/a
26	UBTF	chr19:53661520-53661763	K562	blood:	n/a	n/a
27	POLR2A	chr19:53661359-53661585	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr19:53661226-53661789	H1-hESC	embryonic stem cell:	n/a	n/a
29	UBTF	chr19:53661507-53661856	K562	blood:	n/a	n/a
30	HMGN3	chr19:53661443-53661781	K562	blood:	n/a	n/a
31	POLR2A	chr19:53661326-53661687	GM12878	blood:	n/a	n/a
32	ELF1	chr19:53661491-53661918	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:53661401-53661927	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53652920..53654746-chr19:53660355..53662254,2	K562	blood:

Variant related genes	Relation type
ENSG00000268842	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11880286	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers 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	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv960866	chr19:53652539-53662610	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv912351	chr19:53655493-53702508	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53660000-53662800	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr19:53660200-53661600	Flanking Active TSS	Dnd41	blood
3	chr19:53660400-53661600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:53660400-53662000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr19:53660400-53662600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr19:53660400-53662800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:53660400-53663000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:53660400-53663000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:53660400-53663000	Active TSS	NHLF	lung
10	chr19:53660600-53661600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:53660600-53661600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr19:53660600-53661600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr19:53660600-53661600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:53660600-53661600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr19:53660600-53661600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr19:53660600-53661600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr19:53660600-53661600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr19:53660600-53661800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:53660600-53661800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr19:53660600-53662600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:53660600-53662800	Active TSS	Fetal Kidney	kidney
22	chr19:53660600-53662800	Active TSS	Rectal Smooth Muscle	rectum
23	chr19:53660600-53663000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr19:53660800-53661600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:53660800-53661600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr19:53660800-53661600	Flanking Active TSS	Right Ventricle	heart
27	chr19:53660800-53661800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr19:53660800-53661800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr19:53660800-53661800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr19:53660800-53661800	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr19:53660800-53662000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:53660800-53662600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr19:53660800-53662600	Active TSS	Fetal Intestine Large	intestine
34	chr19:53660800-53662600	Active TSS	HSMM	muscle
35	chr19:53660800-53662800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:53660800-53662800	Active TSS	Esophagus	oesophagus
37	chr19:53660800-53662800	Active TSS	Fetal Intestine Small	intestine
38	chr19:53660800-53662800	Active TSS	HMEC	breast
39	chr19:53660800-53663000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr19:53660800-53663000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:53660800-53663000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:53660800-53663000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr19:53660800-53663000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:53660800-53663000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr19:53660800-53663200	Active TSS	Brain Cingulate Gyrus	brain
46	chr19:53661000-53661600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:53661000-53661600	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr19:53661000-53661600	Flanking Active TSS	NH-A	brain
49	chr19:53661000-53661800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:53661000-53661800	Flanking Active TSS	Primary B cells from cord blood	blood

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