Variant report

Variant	rs36084626
Chromosome Location	chr19:42928407-42928408
allele	A/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	MYC	chr19:42927667-42928607	H1-hESC	embryonic stem cell:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42928021-42928032
2	POLR2A	chr19:42927474-42928729	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr19:42927511-42928641	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr19:42927160-42928603	H1-hESC	embryonic stem cell:	n/a	chr19:42927854-42927866 chr19:42928323-42928332 chr19:42928163-42928172 chr19:42927855-42927869 chr19:42927887-42927898 chr19:42928162-42928171 chr19:42928194-42928206 chr19:42928196-42928205 chr19:42928239-42928253 chr19:42927854-42927866 chr19:42927887-42927899 chr19:42927854-42927865 chr19:42928321-42928333 chr19:42928215-42928225 chr19:42927889-42927898 chr19:42927856-42927865 chr19:42927888-42927897 chr19:42927888-42927902 chr19:42927855-42927864 chr19:42927887-42927899
5	POLR2A	chr19:42928373-42928443	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr19:42927780-42928649	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP4	chr19:42927653-42928534	H1-hESC	embryonic stem cell:	n/a	chr19:42927887-42927903 chr19:42927887-42927898 chr19:42927885-42927901 chr19:42928321-42928337 chr19:42927854-42927865 chr19:42928157-42928173
8	MAX	chr19:42928215-42928671	K562	blood:	n/a	chr19:42928353-42928363
9	SIN3A	chr19:42926983-42928494	H1-hESC	embryonic stem cell:	n/a	chr19:42927986-42927999
10	E2F6	chr19:42927425-42928816	A549	lung:	n/a	chr19:42928201-42928211 chr19:42928458-42928469 chr19:42928162-42928171 chr19:42928385-42928394
11	MXI1	chr19:42927090-42928813	IMR90	lung:	n/a	n/a
12	REST	chr19:42926649-42928673	H1-neurons	neurons:	n/a	chr19:42927980-42927998 chr19:42927655-42927668 chr19:42927979-42927999 chr19:42927541-42927551
13	MAX	chr19:42927649-42928922	H1-hESC	embryonic stem cell:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42928021-42928032
14	CEBPB	chr19:42928170-42928496	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr19:42927798-42928678	HUVEC	blood vessel:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42928021-42928032
16	E2F6	chr19:42928268-42928816	K562	blood:	n/a	chr19:42928458-42928469 chr19:42928385-42928394
17	TBP	chr19:42927330-42928539	H1-hESC	embryonic stem cell:	n/a	n/a
18	ELF1	chr19:42926489-42928635	GM12878	blood:	n/a	chr19:42927978-42927990
19	MTA3	chr19:42926179-42928574	GM12878	blood:	n/a	n/a
20	SP1	chr19:42927207-42928512	H1-hESC	embryonic stem cell:	n/a	chr19:42927854-42927866 chr19:42928323-42928332 chr19:42928163-42928172 chr19:42927855-42927869 chr19:42927887-42927898 chr19:42928162-42928171 chr19:42928194-42928206 chr19:42928196-42928205 chr19:42928239-42928253 chr19:42927854-42927866 chr19:42927887-42927899 chr19:42927854-42927865 chr19:42928321-42928333 chr19:42928215-42928225 chr19:42927889-42927898 chr19:42927856-42927865 chr19:42927888-42927897 chr19:42927888-42927902 chr19:42927855-42927864 chr19:42927887-42927899
21	PBX3	chr19:42927510-42928694	A549	lung:	n/a	n/a
22	POLR2A	chr19:42926745-42928431	H1-neurons	neurons:	n/a	n/a
23	MAZ	chr19:42926407-42928545	IMR90	lung:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
24	MAX	chr19:42927284-42928707	ECC-1	luminal epithelium:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
25	MAX	chr19:42927310-42928695	ECC-1	luminal epithelium:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
26	MAX	chr19:42926737-42928526	GM12878	blood:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
27	E2F6	chr19:42928269-42928667	K562	blood:	n/a	chr19:42928458-42928469 chr19:42928385-42928394
28	NRF1	chr19:42928183-42928552	H1-hESC	embryonic stem cell:	n/a	chr19:42928384-42928395 chr19:42928386-42928395 chr19:42928381-42928395 chr19:42928384-42928398
29	CHD1	chr19:42928304-42928485	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr19:42928304-42928527	K562	blood:	n/a	chr19:42928353-42928363
31	POLR2A	chr19:42926462-42928671	H1-neurons	neurons:	n/a	n/a
32	MAX	chr19:42926979-42928809	H1-hESC	embryonic stem cell:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
33	MAX	chr19:42927014-42929038	A549	lung:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
34	MAX	chr19:42927037-42928869	A549	lung:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
35	E2F6	chr19:42927002-42929228	H1-hESC	embryonic stem cell:	n/a	chr19:42928201-42928211 chr19:42928458-42928469 chr19:42928162-42928171 chr19:42928385-42928394
36	PML	chr19:42926332-42928553	GM12878	blood:	n/a	n/a
37	STAT5A	chr19:42926753-42928561	GM12878	blood:	n/a	chr19:42927150-42927157
38	MYC	chr19:42928369-42928417	HUVEC	blood vessel:	n/a	n/a
39	TCF12	chr19:42928300-42928599	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr19:42926571-42928608	GM12878	blood:	n/a	chr19:42927139-42927147
41	E2F6	chr19:42927058-42929329	H1-hESC	embryonic stem cell:	n/a	chr19:42928201-42928211 chr19:42928458-42928469 chr19:42928162-42928171 chr19:42928385-42928394
42	MAX	chr19:42927482-42928550	A549	lung:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
43	JUN	chr19:42928098-42928414	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:42927819-42928542	H1-hESC	embryonic stem cell:	n/a	n/a
45	USF2	chr19:42927792-42928598	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr19:42927125-42929267	H1-hESC	embryonic stem cell:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
47	E2F6	chr19:42927024-42928982	A549	lung:	n/a	chr19:42928201-42928211 chr19:42928458-42928469 chr19:42928162-42928171 chr19:42928385-42928394
48	MAX	chr19:42926986-42928729	HCT-116	colon:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
49	TCF12	chr19:42927039-42928479	A549	lung:	n/a	n/a
50	E2F6	chr19:42927934-42929044	K562	blood:	n/a	chr19:42928201-42928211 chr19:42928458-42928469 chr19:42928162-42928171 chr19:42928385-42928394

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42927142..42929606-chr19:42930289..42932952,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:42927907-42929356	NONHSAT066551
2	lnc-AC011497.1-2	chr19:42927907-42929356	ENSG00000213904.4

Variant related genes	Relation type
LIPE	TF binding region
LIPE-AS1	TF binding region
ENSG00000079435	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10451440	1.00[AMR][1000 genomes]
rs34147230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34348028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34433546	1.00[AMR][1000 genomes]
rs34724405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34874006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35067200	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35073550	1.00[AMR][1000 genomes]
rs35091338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35662484	1.00[AMR][1000 genomes]
rs35684151	1.00[AMR][1000 genomes]
rs35814374	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
9	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
11	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv911801	chr19:42910416-42929502	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh 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	7 gene(s)	inside rSNPs	diseases
15	nsv911802	chr19:42915110-42929254	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv911804	chr19:42916841-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv911807	chr19:42920555-42929254	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv579633	chr19:42925636-42929254	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv911808	chr19:42925636-42930652	Active TSS Enhancers Weak transcription Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42926000-42928600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr19:42926200-42929200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr19:42926600-42928600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr19:42926600-42928600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:42926600-42928600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr19:42926600-42928600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
7	chr19:42926600-42928600	Flanking Active TSS	HMEC	breast
8	chr19:42926800-42928600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr19:42926800-42928600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr19:42927000-42928600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:42927000-42928800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:42927000-42929200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:42927200-42928600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:42927200-42928600	Active TSS	Primary T cells from cord blood	blood
15	chr19:42927200-42928600	Active TSS	Brain Germinal Matrix	brain
16	chr19:42927200-42928600	Active TSS	Fetal Brain Female	brain
17	chr19:42927200-42928600	Flanking Bivalent TSS/Enh	Placenta	Placenta
18	chr19:42927200-42928600	Weak transcription	K562	blood
19	chr19:42927200-42928800	Active TSS	Brain Angular Gyrus	brain
20	chr19:42927400-42928600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:42927400-42928600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr19:42927400-42928600	Active TSS	Fetal Lung	lung
23	chr19:42927600-42928600	Active TSS	HSMM	muscle
24	chr19:42927800-42928600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr19:42927800-42928800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:42928000-42928600	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr19:42928000-42928600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr19:42928000-42928600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:42928000-42928600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:42928000-42928600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr19:42928000-42928600	Flanking Active TSS	Dnd41	blood
32	chr19:42928000-42928800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr19:42928000-42928800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr19:42928000-42929200	Enhancers	Fetal Heart	heart
35	chr19:42928200-42928600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:42928200-42928600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr19:42928200-42928600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:42928200-42928600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:42928200-42928600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr19:42928200-42928600	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr19:42928200-42928600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
42	chr19:42928200-42928600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr19:42928200-42928600	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr19:42928200-42928600	Flanking Active TSS	Thymus	Thymus
45	chr19:42928200-42928800	Enhancers	Primary hematopoietic stem cells	blood
46	chr19:42928200-42928800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr19:42928200-42929000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr19:42928200-42929200	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr19:42928200-42929400	Enhancers	Fetal Brain Male	brain
50	chr19:42928200-42929400	Enhancers	Spleen	Spleen

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