Variant report

Variant	rs807490
Chromosome Location	chr19:36265991-36265992
allele	C/G/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	SP1	chr19:36265990-36266598	GM12878	blood:	n/a	chr19:36266426-36266440 chr19:36266320-36266329 chr19:36266254-36266266 chr19:36266431-36266440 chr19:36266430-36266439 chr19:36266319-36266331 chr19:36266230-36266240 chr19:36266320-36266330 chr19:36266298-36266319 chr19:36266281-36266290 chr19:36266254-36266265 chr19:36266210-36266231 chr19:36266431-36266440 chr19:36266279-36266291 chr19:36266429-36266441 chr19:36266256-36266265 chr19:36266320-36266330 chr19:36266230-36266240 chr19:36266279-36266290 chr19:36266321-36266330 chr19:36266279-36266291 chr19:36266351-36266372 chr19:36266319-36266330 chr19:36266430-36266440 chr19:36266254-36266266 chr19:36266429-36266441 chr19:36266319-36266331
2	POLR2A	chr19:36265948-36266951	H1-neurons	neurons:	n/a	n/a
3	JUND	chr19:36265519-36266741	A549	lung:	n/a	chr19:36266301-36266310 chr19:36266354-36266363
4	SIN3AK20	chr19:36265837-36266385	A549	lung:	n/a	n/a
5	POLR2A	chr19:36265905-36266934	U87	brain:	n/a	n/a
6	POLR2A	chr19:36265905-36266940	U87	brain:	n/a	n/a
7	TCF12	chr19:36265573-36266530	A549	lung:	n/a	n/a
8	POLR2A	chr19:36265083-36266581	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr19:36265260-36267670	SK-N-SH	brain:	n/a	chr19:36266480-36266495
10	SIN3AK20	chr19:36265607-36266655	A549	lung:	n/a	n/a
11	STAT5A	chr19:36265875-36266308	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:36265845-36267482	H1-neurons	neurons:	n/a	n/a
13	E2F6	chr19:36265438-36266745	A549	lung:	n/a	chr19:36266321-36266336 chr19:36266489-36266499 chr19:36266211-36266220 chr19:36266443-36266453
14	ETS1	chr19:36265750-36266256	A549	lung:	n/a	n/a
15	SP1	chr19:36265544-36266720	A549	lung:	n/a	chr19:36266426-36266440 chr19:36266320-36266329 chr19:36266254-36266266 chr19:36266431-36266440 chr19:36266430-36266439 chr19:36266319-36266331 chr19:36266230-36266240 chr19:36266320-36266330 chr19:36266298-36266319 chr19:36266281-36266290 chr19:36266254-36266265 chr19:36266210-36266231 chr19:36266431-36266440 chr19:36266279-36266291 chr19:36266429-36266441 chr19:36266256-36266265 chr19:36266320-36266330 chr19:36266230-36266240 chr19:36266279-36266290 chr19:36266321-36266330 chr19:36266279-36266291 chr19:36266351-36266372 chr19:36266319-36266330 chr19:36266430-36266440 chr19:36266254-36266266 chr19:36266429-36266441 chr19:36266319-36266331
16	POLR2A	chr19:36265920-36266879	K562	blood:	n/a	n/a
17	MYBL2	chr19:36265968-36266519	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:36265963-36266037	MCF-7	breast:	n/a	n/a
19	MAX	chr19:36265394-36267015	A549	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
20	SIN3AK20	chr19:36265822-36266668	MCF-7	breast:	n/a	n/a
21	SP1	chr19:36265952-36266577	K562	blood:	n/a	chr19:36266426-36266440 chr19:36266320-36266329 chr19:36266254-36266266 chr19:36266431-36266440 chr19:36266430-36266439 chr19:36266319-36266331 chr19:36266230-36266240 chr19:36266320-36266330 chr19:36266298-36266319 chr19:36266281-36266290 chr19:36266254-36266265 chr19:36266210-36266231 chr19:36266431-36266440 chr19:36266279-36266291 chr19:36266429-36266441 chr19:36266256-36266265 chr19:36266320-36266330 chr19:36266230-36266240 chr19:36266279-36266290 chr19:36266321-36266330 chr19:36266279-36266291 chr19:36266351-36266372 chr19:36266319-36266330 chr19:36266430-36266440 chr19:36266254-36266266 chr19:36266429-36266441 chr19:36266319-36266331
22	SIN3AK20	chr19:36265889-36266986	PANC-1	pancreas:	n/a	n/a
23	SIN3AK20	chr19:36265988-36266667	SK-N-SH	brain:	n/a	n/a
24	MTA3	chr19:36265886-36266371	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:36265495-36266874	ECC-1	luminal epithelium:	n/a	n/a
26	SIN3A	chr19:36265979-36266928	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr19:36265701-36267655	H1-neurons	neurons:	n/a	chr19:36266904-36266912 chr19:36266100-36266118
28	POLR2A	chr19:36265969-36266060	MCF-7	breast:	n/a	n/a
29	POLR2A	chr19:36265552-36266581	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr19:36265929-36266595	PANC-1	pancreas:	n/a	n/a
31	PML	chr19:36265946-36266568	GM12878	blood:	n/a	n/a
32	SP1	chr19:36265869-36266687	A549	lung:	n/a	chr19:36266426-36266440 chr19:36266320-36266329 chr19:36266254-36266266 chr19:36266431-36266440 chr19:36266430-36266439 chr19:36266319-36266331 chr19:36266230-36266240 chr19:36266320-36266330 chr19:36266298-36266319 chr19:36266281-36266290 chr19:36266254-36266265 chr19:36266210-36266231 chr19:36266431-36266440 chr19:36266279-36266291 chr19:36266429-36266441 chr19:36266256-36266265 chr19:36266320-36266330 chr19:36266230-36266240 chr19:36266279-36266290 chr19:36266321-36266330 chr19:36266279-36266291 chr19:36266351-36266372 chr19:36266319-36266330 chr19:36266430-36266440 chr19:36266254-36266266 chr19:36266429-36266441 chr19:36266319-36266331
33	CREB1	chr19:36265501-36266002	A549	lung:	n/a	n/a
34	MAX	chr19:36265946-36266650	MCF-7	breast:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
35	PBX3	chr19:36265953-36266861	SK-N-SH	brain:	n/a	chr19:36266212-36266221 chr19:36266300-36266309 chr19:36266353-36266362
36	POLR2A	chr19:36265987-36266033	ProgFib	skin:	n/a	n/a
37	MAZ	chr19:36265783-36267273	IMR90	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
38	ELF1	chr19:36265786-36266940	GM12878	blood:	n/a	chr19:36266491-36266500
39	MAX	chr19:36265624-36266904	K562	blood:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
40	HCFC1	chr19:36265460-36266828	Hela-S3	cervix:	n/a	n/a
41	MAX	chr19:36265554-36266808	A549	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
42	BCL3	chr19:36265316-36266349	A549	lung:	n/a	chr19:36266281-36266290 chr19:36266264-36266273

No.	Distal block	Cell Line	Cell type
1	chr19:36245255..36250047-chr19:36263979..36267864,8	K562	blood:
2	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:
3	chr19:36261311..36264277-chr19:36264706..36266602,2	MCF-7	breast:
4	chr19:35738434..35740432-chr19:36265157..36268131,2	MCF-7	breast:
5	chr19:36242461..36245033-chr19:36262811..36266302,4	K562	blood:
6	chr19:36234776..36236564-chr19:36265019..36266986,2	K562	blood:
7	chr19:36239350..36241235-chr19:36263074..36266129,3	MCF-7	breast:
8	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:
9	chr19:36239474..36241411-chr19:36265453..36267969,2	K562	blood:
10	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
11	chr19:36234786..36236387-chr19:36265803..36268215,2	MCF-7	breast:
12	chr19:36223600..36226210-chr19:36262533..36266105,3	K562	blood:
13	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
14	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
15	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

Variant related genes	Relation type
ARHGAP33	TF binding region
ENSG00000267049	TF binding region
ENSG00000267796	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000267049	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000267328	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1262746	1.00[AMR][1000 genomes]
rs1262750	1.00[AMR][1000 genomes]
rs1262751	1.00[AMR][1000 genomes]
rs179569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231215	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231219	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231220	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231239	1.00[AMR][1000 genomes]
rs231240	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231587	1.00[AMR][1000 genomes]
rs231595	1.00[AMR][1000 genomes]
rs2428145	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2520310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931233	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers 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	66 gene(s)	inside rSNPs	diseases
5	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36250400-36266000	Weak transcription	Aorta	Aorta
2	chr19:36251000-36266000	Weak transcription	HSMM	muscle
3	chr19:36253200-36266000	Weak transcription	HSMMtube	muscle
4	chr19:36256200-36266000	Weak transcription	Liver	Liver
5	chr19:36257400-36266000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:36258800-36266000	Weak transcription	Gastric	stomach
7	chr19:36260000-36266000	Weak transcription	NHLF	lung
8	chr19:36265200-36266000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:36265200-36266000	Flanking Active TSS	A549	lung
10	chr19:36265400-36266000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:36265400-36266000	Flanking Active TSS	Fetal Brain Female	brain
12	chr19:36265400-36266000	Enhancers	Placenta	Placenta
13	chr19:36265400-36266000	Enhancers	Right Ventricle	heart
14	chr19:36265400-36266000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr19:36265400-36266000	Enhancers	Stomach Mucosa	stomach
16	chr19:36265400-36266000	Flanking Active TSS	K562	blood
17	chr19:36265400-36266200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr19:36265400-36266200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr19:36265400-36266200	Flanking Active TSS	HepG2	liver
20	chr19:36265400-36267000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:36265600-36266000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:36265600-36266000	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:36265600-36266000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:36265600-36266000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr19:36265600-36266000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr19:36265600-36266000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:36265600-36266000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:36265600-36266000	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr19:36265600-36266000	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr19:36265600-36266000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:36265600-36266000	Enhancers	Esophagus	oesophagus
32	chr19:36265600-36266000	Enhancers	Fetal Intestine Small	intestine
33	chr19:36265600-36266000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr19:36265600-36266000	Flanking Active TSS	Left Ventricle	heart
35	chr19:36265600-36266000	Enhancers	Lung	lung
36	chr19:36265600-36266000	Flanking Active TSS	Pancreas	Pancrea
37	chr19:36265600-36266000	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr19:36265600-36266000	Flanking Active TSS	Right Atrium	heart
39	chr19:36265600-36266000	Flanking Active TSS	HMEC	breast
40	chr19:36265600-36266200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:36265600-36266200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:36265600-36266200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr19:36265600-36266200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:36265600-36266200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:36265600-36266200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr19:36265600-36266200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr19:36265600-36266200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:36265600-36266200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr19:36265600-36266200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:36265600-36266200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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