Variant report

Variant	rs8113269
Chromosome Location	chr19:55998330-55998331
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	chr19:55998279-55999432	U87	brain:	n/a	n/a
2	PBX3	chr19:55998111-55999462	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr19:55998241-55999560	HUVEC	blood vessel:	n/a	n/a
4	SIN3AK20	chr19:55998328-55998711	SK-N-SH	brain:	n/a	n/a
5	ZNF263	chr19:55998226-55999387	HEK293-T-REx	kidney:	n/a	n/a
6	EP300	chr19:55998276-55999497	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr19:55997314-55999599	Hela-S3	cervix:	n/a	n/a
8	RXRA	chr19:55998206-55999363	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr19:55996069-55999581	IMR90	lung:	n/a	n/a
10	POLR2A	chr19:55994967-55999696	PANC-1	pancreas:	n/a	n/a
11	MAX	chr19:55998253-55999401	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr19:55998200-55998903	HUVEC	blood vessel:	n/a	n/a
13	SP1	chr19:55998324-55999511	A549	lung:	n/a	chr19:55999210-55999222 chr19:55999211-55999225 chr19:55998982-55998991 chr19:55998981-55998993 chr19:55998983-55998992 chr19:55999212-55999221 chr19:55999211-55999220 chr19:55999210-55999222 chr19:55999451-55999465
14	POLR2A	chr19:55997427-55999621	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr19:55998237-55999618	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr19:55995850-55999417	PFSK-1	brain:	n/a	n/a
17	MXI1	chr19:55995674-55999601	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr19:55998240-55998386	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr19:55998247-55999479	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr19:55998060-56000606	IMR90	lung:	n/a	chr19:56000432-56000442 chr19:56000325-56000335
21	POLR2A	chr19:55998209-56000922	K562	blood:	n/a	n/a
22	JUN	chr19:55998280-55999506	K562	blood:	n/a	chr19:55999105-55999113 chr19:55999103-55999115
23	POLR2A	chr19:55998263-55998767	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr19:55998279-55999551	U87	brain:	n/a	n/a
25	POLR2A	chr19:55998189-55998567	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:55998282-55998586	K562	blood:	n/a	n/a
27	POLR2A	chr19:55997145-55998611	K562	blood:	n/a	n/a
28	POLR2A	chr19:55998250-55998548	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr19:55998255-55998868	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:55998117-55999360	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr19:55998291-55999372	U87	brain:	n/a	n/a
32	POLR2A	chr19:55997259-55999508	PFSK-1	brain:	n/a	n/a
33	RCOR1	chr19:55998250-55999684	IMR90	lung:	n/a	n/a
34	POLR2A	chr19:55998167-55998886	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:55998269-55998735	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr19:55998217-55999722	A549	lung:	n/a	n/a
37	FOSL2	chr19:55998231-55999480	SK-N-SH	brain:	n/a	chr19:55999105-55999113 chr19:55999103-55999115
38	PBX3	chr19:55998225-55999434	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr19:55998255-55999683	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55909744..55913358-chr19:55997717..56001739,3	K562	blood:
2	chr19:55895470..55898612-chr19:55996647..55999091,3	MCF-7	breast:
3	chr19:55994990..55999125-chr19:56150596..56153745,4	K562	blood:
4	chr19:55972031..55974060-chr19:55997897..55999590,2	K562	blood:
5	chr19:55996765..55998431-chr19:56152633..56154883,2	MCF-7	breast:
6	chr19:55996175..56001724-chr19:56002918..56007255,10	MCF-7	breast:
7	chr19:55951074..55953797-chr19:55995529..55999073,3	K562	blood:
8	chr19:55996873..55998600-chr19:56111069..56112624,2	K562	blood:
9	chr19:55915902..55921022-chr19:55996597..56001074,7	K562	blood:
10	chr19:55685207..55686933-chr19:55998048..56001042,3	K562	blood:
11	chr19:55996982..55998485-chr19:56153883..56155903,2	K562	blood:
12	chr19:55973333..55974918-chr19:55997673..56000116,2	K562	blood:
13	chr19:55993913..55998367-chr19:55998821..56002312,7	MCF-7	breast:

Variant related genes	Relation type
SSC5D	TF binding region
ENSG00000171443	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000173581	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57232155	1.00[EUR][1000 genomes]
rs7260246	1.00[TSI][hapmap]
rs73605177	1.00[EUR][1000 genomes]
rs73605189	1.00[EUR][1000 genomes]
rs73605193	1.00[EUR][1000 genomes]
rs8101351	1.00[EUR][1000 genomes]
rs8104117	1.00[EUR][1000 genomes]
rs8104220	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv912480	chr19:55972950-56009881	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv912481	chr19:55972950-56019597	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv912482	chr19:55972950-56062949	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
9	nsv912483	chr19:55975486-56003777	Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv912484	chr19:55977909-56019597	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv458833	chr19:55977909-56033088	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv580343	chr19:55977909-56033088	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912485	chr19:55977909-56050844	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
15	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
16	nsv912488	chr19:55980728-56003777	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
17	nsv912489	chr19:55990975-56002329	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv912490	chr19:55990975-56058737	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	nsv912491	chr19:55990975-56062949	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
20	nsv912492	chr19:55990975-56066163	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8113269	LILRA2	cis	lymphoblastoid	seeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55992000-56000200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:55992600-55998400	Weak transcription	Hela-S3	cervix
3	chr19:55995400-55999400	Enhancers	Fetal Heart	heart
4	chr19:55995600-55999600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr19:55996600-55999200	Enhancers	Spleen	Spleen
6	chr19:55996600-56000200	Enhancers	Stomach Mucosa	stomach
7	chr19:55996800-55998800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:55996800-55999000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:55996800-55999000	Flanking Active TSS	NHLF	lung
10	chr19:55996800-55999400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr19:55996800-55999600	Flanking Active TSS	Rectal Smooth Muscle	rectum
12	chr19:55997000-55998800	Enhancers	Fetal Brain Male	brain
13	chr19:55997000-55998800	Enhancers	Pancreas	Pancrea
14	chr19:55997000-55999000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:55997000-55999200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:55997000-55999400	Enhancers	Left Ventricle	heart
17	chr19:55997000-55999400	Flanking Active TSS	HSMMtube	muscle
18	chr19:55997000-55999600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr19:55997000-55999600	Enhancers	Right Atrium	heart
20	chr19:55997000-56000000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr19:55997000-56000200	Enhancers	Lung	lung
22	chr19:55997000-56000400	Enhancers	Placenta	Placenta
23	chr19:55997000-56000600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr19:55997000-56001200	Enhancers	Fetal Lung	lung
25	chr19:55997200-55998400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:55997200-55998400	Enhancers	NHDF-Ad	bronchial
27	chr19:55997200-55998600	Weak transcription	Brain Substantia Nigra	brain
28	chr19:55997200-55998800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:55997200-55998800	Genic enhancers	Fetal Stomach	stomach
30	chr19:55997200-55999200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:55997200-55999200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:55997200-55999400	Enhancers	Right Ventricle	heart
33	chr19:55997200-55999400	Enhancers	HMEC	breast
34	chr19:55997200-55999400	Flanking Active TSS	HSMM	muscle
35	chr19:55997200-55999600	Transcr. at gene 5' and 3'	Thymus	Thymus
36	chr19:55997200-55999800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:55997200-56000200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:55997400-55998400	Weak transcription	GM12878-XiMat	blood
39	chr19:55997400-55998600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:55997400-55998800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:55997400-55999800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:55997400-55999800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr19:55997400-56000200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr19:55997400-56000200	Enhancers	Brain Angular Gyrus	brain
45	chr19:55997400-56001200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:55997600-55998400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr19:55997600-55998400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr19:55997600-55998400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:55997600-55998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:55997600-55998400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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