Variant report

Variant	rs3810453
Chromosome Location	chr19:36266946-36266947
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	POLR2A	chr19:36265948-36266951	H1-neurons	neurons:	n/a	n/a
2	ZBTB7A	chr19:36266348-36266960	ECC-1	luminal epithelium:	n/a	n/a
3	RCOR1	chr19:36266078-36266948	K562	blood:	n/a	n/a
4	CREB1	chr19:36266066-36266973	HepG2	liver:	n/a	n/a
5	MXI1	chr19:36265260-36267670	SK-N-SH	brain:	n/a	chr19:36266480-36266495
6	POLR2A	chr19:36265845-36267482	H1-neurons	neurons:	n/a	n/a
7	MXI1	chr19:36266011-36266985	IMR90	lung:	n/a	chr19:36266480-36266495
8	MAX	chr19:36266025-36266958	HepG2	liver:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
9	MAX	chr19:36265394-36267015	A549	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489
10	SIN3AK20	chr19:36265889-36266986	PANC-1	pancreas:	n/a	n/a
11	REST	chr19:36265701-36267655	H1-neurons	neurons:	n/a	chr19:36266904-36266912 chr19:36266100-36266118
12	CREB1	chr19:36266019-36266947	A549	lung:	n/a	n/a
13	MAZ	chr19:36265783-36267273	IMR90	lung:	n/a	chr19:36266320-36266330 chr19:36266480-36266489

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	chr19:35738434..35740432-chr19:36265157..36268131,2	MCF-7	breast:
4	chr19:36234776..36236564-chr19:36265019..36266986,2	K562	blood:
5	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:
6	chr19:36239474..36241411-chr19:36265453..36267969,2	K562	blood:
7	chr19:36207787..36211113-chr19:36265053..36268029,3	K562	blood:
8	chr19:36234786..36236387-chr19:36265803..36268215,2	MCF-7	breast:
9	chr19:36207151..36210695-chr19:36264649..36268718,5	K562	blood:
10	chr19:36266545..36269722-chr19:36286322..36289805,3	K562	blood:
11	chr19:36208210..36211144-chr19:36264877..36267691,4	MCF-7	breast:
12	chr19:36266549..36268656-chr19:36368007..36369573,2	K562	blood:
13	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:

Variant related genes	Relation type
ARHGAP33	TF binding region
ENSG00000105290	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000267049	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000267328	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000225872	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000205155	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2234363	0.85[ASN][1000 genomes]
rs2239948	0.88[ASN][1000 genomes]
rs2242524	0.88[ASN][1000 genomes]
rs35443549	0.86[ASN][1000 genomes]
rs3746276	0.88[ASN][1000 genomes]
rs3746279	0.88[ASN][1000 genomes]
rs3787052	0.85[ASN][1000 genomes]
rs4145402	0.88[ASN][1000 genomes]
rs55703687	0.86[ASN][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36265400-36267000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:36265600-36267400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:36265600-36267400	Active TSS	NHEK	skin
4	chr19:36265600-36267800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36265800-36267000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:36265800-36267000	Active TSS	Psoas Muscle	Psoas
7	chr19:36265800-36267200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:36265800-36267200	Active TSS	Brain Germinal Matrix	brain
9	chr19:36265800-36267200	Active TSS	Brain Substantia Nigra	brain
10	chr19:36265800-36267200	Active TSS	GM12878-XiMat	blood
11	chr19:36265800-36268000	Active TSS	Fetal Kidney	kidney
12	chr19:36266000-36267000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:36266000-36267000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:36266000-36267000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:36266000-36267000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr19:36266000-36267000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:36266000-36267000	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr19:36266000-36267000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:36266000-36267000	Active TSS	Aorta	Aorta
20	chr19:36266000-36267000	Active TSS	Brain Angular Gyrus	brain
21	chr19:36266000-36267000	Active TSS	Brain Hippocampus Middle	brain
22	chr19:36266000-36267000	Active TSS	Esophagus	oesophagus
23	chr19:36266000-36267000	Active TSS	Gastric	stomach
24	chr19:36266000-36267000	Active TSS	Left Ventricle	heart
25	chr19:36266000-36267000	Active TSS	Lung	lung
26	chr19:36266000-36267000	Active TSS	Ovary	ovary
27	chr19:36266000-36267000	Active TSS	Pancreas	Pancrea
28	chr19:36266000-36267000	Active TSS	Rectal Smooth Muscle	rectum
29	chr19:36266000-36267000	Active TSS	Right Atrium	heart
30	chr19:36266000-36267000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr19:36266000-36267000	Active TSS	Small Intestine	intestine
32	chr19:36266000-36267000	Active TSS	A549	lung
33	chr19:36266000-36267000	Active TSS	Hela-S3	cervix
34	chr19:36266000-36267000	Active TSS	HMEC	breast
35	chr19:36266000-36267000	Active TSS	HSMMtube	muscle
36	chr19:36266000-36267000	Active TSS	K562	blood
37	chr19:36266000-36267200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr19:36266000-36267200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr19:36266000-36267200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr19:36266000-36267200	Active TSS	Colonic Mucosa	Colon
41	chr19:36266000-36267200	Active TSS	Fetal Brain Female	brain
42	chr19:36266000-36267200	Active TSS	Fetal Intestine Small	intestine
43	chr19:36266000-36267400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr19:36266000-36267600	Active TSS	HSMM	muscle
45	chr19:36266200-36267000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr19:36266200-36267000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:36266200-36267000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:36266200-36267000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:36266200-36267000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:36266200-36267000	Active TSS	Primary hematopoietic stem cells short term culture	blood

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