Variant report

Variant	rs6919835
Chromosome Location	chr6:30580597-30580598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:61)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30580436-30580984	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr6:30580411-30585217	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr6:30580372-30585867	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:30579856-30580952	HCT-116	colon:	n/a	n/a
5	POLR2A	chr6:30576348-30586731	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr6:30579350-30586587	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr6:30579809-30585921	GM18951	blood:	n/a	n/a
8	POLR2A	chr6:30580410-30581072	HCT-116	colon:	n/a	n/a
9	POLR2A	chr6:30579457-30585959	SK-N-MC	brain:	n/a	n/a
10	TEAD4	chr6:30580463-30580959	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:30579823-30586558	K562	blood:	n/a	n/a
12	HEY1	chr6:30580467-30580940	K562	blood:	n/a	n/a
13	POLR2A	chr6:30576459-30586534	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:30579359-30585864	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:30580510-30580700	A549	lung:	n/a	n/a
16	PML	chr6:30579632-30586566	GM12878	blood:	n/a	chr6:30580599-30580607
17	POLR2A	chr6:30579296-30585245	U87	brain:	n/a	n/a
18	POLR2A	chr6:30576762-30586531	Hela-S3	cervix:	n/a	n/a
19	RUNX3	chr6:30580514-30580983	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:30580395-30586632	GM12892	blood:	n/a	n/a
21	CEBPB	chr6:30580540-30580758	IMR90	lung:	n/a	n/a
22	POLR2A	chr6:30576843-30586279	HCT-116	colon:	n/a	n/a
23	POLR2A	chr6:30580050-30585111	A549	lung:	n/a	n/a
24	STAT5A	chr6:30580246-30586275	GM12878	blood:	n/a	chr6:30585223-30585231 chr6:30580358-30580365 chr6:30583348-30583356 chr6:30583199-30583211 chr6:30582085-30582096 chr6:30582020-30582028
25	POLR2A	chr6:30576894-30586563	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr6:30580005-30585897	HepG2	liver:	n/a	n/a
27	MBD4	chr6:30579709-30585181	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:30580449-30580981	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr6:30579091-30586493	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:30579199-30585823	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:30576267-30586793	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr6:30579994-30586398	K562	blood:	n/a	n/a
33	POLR2A	chr6:30580457-30580990	HL-60	blood:	n/a	n/a
34	POLR2A	chr6:30580528-30584214	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:30576421-30586088	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr6:30580157-30581737	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr6:30580556-30580851	Gliobla	brain:	n/a	n/a
38	ATF2	chr6:30580378-30585960	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:30580481-30585921	GM19193	blood:	n/a	n/a
40	TEAD4	chr6:30580316-30581049	ECC-1	luminal epithelium:	n/a	n/a
41	MBD4	chr6:30580571-30586154	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:30580379-30585283	GM12891	blood:	n/a	n/a
43	POLR2A	chr6:30576151-30586136	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr6:30576533-30586585	GM12891	blood:	n/a	n/a
45	POLR2A	chr6:30580393-30585857	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:30580301-30586715	GM12892	blood:	n/a	n/a
47	JUND	chr6:30579850-30584418	SK-N-SH	brain:	n/a	chr6:30583684-30583696 chr6:30583673-30583682 chr6:30581973-30581980 chr6:30581402-30581410
48	KAP1	chr6:30579901-30581450	HEK293	kidney:	n/a	chr6:30580599-30580607
49	PML	chr6:30580471-30580703	GM12878	blood:	n/a	chr6:30580599-30580607
50	POLR2A	chr6:30576971-30585965	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30580581-30580631	HEK293	kidney:	embryo
2	chr6:30580581-30580631	MCF-7	breast:	n/a
3	chr6:30580581-30580631	GM12878	blood:	n/a
4	chr6:30580581-30580631	HMEC	breast:	n/a
5	chr6:30580581-30580631	HNPCEpiC	eye:	n/a
6	chr6:30580581-30580631	AG09319	gingival:	n/a
7	chr6:30580581-30580631	HRCEpiC	kidney:	n/a
8	chr6:30580581-30580631	LNCaP	prostate:	n/a
9	chr6:30580581-30580631	Caco-2	colon:	n/a
10	chr6:30580581-30580631	HCM	heart:	n/a
11	chr6:30580581-30580631	Hela-S3	cervix:	n/a
12	chr6:30580581-30580631	HEEpiC	esophagus:	n/a
13	chr6:30580581-30580631	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:30580581-30580631	AG04450	lung:	fetal
15	chr6:30580581-30580631	AoSMC	blood vessel:	n/a
16	chr6:30580581-30580631	T-47D	breast:	n/a
17	chr6:30580581-30580631	HIPEpiC	eye:	n/a
18	chr6:30580581-30580631	HUVEC	blood vessel:	n/a
19	chr6:30580581-30580631	IMR90	lung:	fetal
20	chr6:30580581-30580631	HCF	heart:	n/a
21	chr6:30580581-30580631	PANC-1	pancreas:	n/a
22	chr6:30580581-30580631	RPTEC	kidney:	n/a
23	chr6:30580581-30580631	NHBE	bronchial:	n/a
24	chr6:30580581-30580631	BJ	skin:	n/a
25	chr6:30580581-30580631	SAEC	small airway:	n/a
26	chr6:30580581-30580631	NH-A	brain:	n/a
27	chr6:30580581-30580631	U87	brain:	n/a
28	chr6:30580581-30580631	HL-60	blood:	n/a
29	chr6:30580581-30580631	PrEC	prostate:	n/a
30	chr6:30580581-30580631	MCF10A-Er-Src	breast:	n/a
31	chr6:30580581-30580631	NB4	blood:	n/a
32	chr6:30580581-30580631	HRE	kidney:	n/a
33	chr6:30580581-30580631	GM12892	blood:	n/a
34	chr6:30580581-30580631	A549	lung:	n/a
35	chr6:30580581-30580631	BE2_C	brain:	n/a
36	chr6:30580581-30580631	CMK	blood:	n/a
37	chr6:30580581-30580631	NT2-D1	testis:	n/a
38	chr6:30580581-30580631	ProgFib	skin:	n/a
39	chr6:30580581-30580631	NHDF-neo	bronchial:	n/a
40	chr6:30580581-30580631	Hepatocyte	liver:	n/a
41	chr6:30580581-30580631	SKMC	muscle:	n/a
42	chr6:30580581-30580631	ovcar-3	ovarian:	n/a
43	chr6:30580581-30580631	GM06990	blood:	n/a
44	chr6:30580581-30580631	SK-N-SH_RA	brain:	n/a
45	chr6:30580581-30580631	GM19239	blood:	n/a
46	chr6:30580581-30580631	AG10803	skin:	n/a
47	chr6:30580581-30580631	HCPEpiC	choroid plexus:	n/a
48	chr6:30580581-30580631	HepG2	liver:	n/a
49	chr6:30580581-30580631	GM12891	blood:	n/a
50	chr6:30580581-30580631	K562	blood:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30580498..30587281-chr6:30649167..30662031,51	K562	blood:
2	chr6:30456489..30460489-chr6:30579571..30585514,7	K562	blood:
3	chr2:9982967..9983782-chr6:30580203..30580741,2	HCT-116	colon:
4	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
5	chr6:30579085..30581613-chr6:30852854..30854555,2	MCF-7	breast:
6	chr6:30579948..30582370-chr6:31051290..31053645,2	K562	blood:
7	chr19:50379061..50381652-chr6:30580390..30581972,2	MCF-7	breast:
8	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
9	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
10	chr10:123734225..123734790-chr6:30580486..30581440,2	Hela-S3	cervix:
11	chr6:30580172..30583109-chr6:30833542..30835483,2	K562	blood:
12	chr6:30497178..30499425-chr6:30580124..30582637,2	MCF-7	breast:
13	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
14	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
15	chr6:30537301..30541414-chr6:30578056..30586798,20	MCF-7	breast:
16	chr2:79645281..79647145-chr6:30579289..30582193,2	MCF-7	breast:
17	chr6:30520810..30527475-chr6:30577152..30588201,32	MCF-7	breast:
18	chr6:30577364..30581812-chr6:30612731..30615596,7	MCF-7	breast:
19	chr6:30580426..30582836-chr6:30715158..30716772,2	MCF-7	breast:
20	chr17:56735195..56737816-chr6:30578332..30581180,2	MCF-7	breast:
21	chr6:30576975..30585099-chr6:30622978..30628754,9	MCF-7	breast:
22	chr3:105586480..105589335-chr6:30578433..30580821,2	K562	blood:
23	chr6:30580384..30582652-chr6:30874093..30875974,2	MCF-7	breast:
24	chr6:30469219..30471852-chr6:30580124..30581734,2	MCF-7	breast:
25	chr6:30430770..30433095-chr6:30579406..30582231,2	K562	blood:
26	chr6:30580534..30583122-chr9:130262550..130265354,2	MCF-7	breast:
27	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
28	chr6:30482334..30486036-chr6:30579761..30581992,3	MCF-7	breast:
29	chr6:30517868..30527565-chr6:30576812..30587078,24	MCF-7	breast:
30	chr6:27782069..27784510-chr6:30580237..30582516,2	MCF-7	breast:
31	chr6:30579823..30587267-chr6:30636296..30642513,15	MCF-7	breast:
32	chr6:30578948..30585851-chr6:30707403..30713755,14	MCF-7	breast:
33	chr6:30580152..30583559-chr6:30703279..30705511,3	K562	blood:
34	chr6:30580245..30582942-chr6:31054014..31056579,2	MCF-7	breast:
35	chr2:242130336..242132039-chr6:30579440..30582104,2	MCF-7	breast:
36	chr6:30511425..30515490-chr6:30579291..30582937,6	MCF-7	breast:
37	chr15:69100002..69101686-chr6:30580151..30582556,2	MCF-7	breast:

No data

Variant related genes	Relation type
MRPS18B	TF binding region
MRPS18B	CpG island
ENSG00000264731	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000107672	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000137404	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000236603	Chromatin interaction
ENSG00000104946	Chromatin interaction
ENSG00000204673	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000114423	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000201988	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs3132607	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4148249	0.86[AFR][1000 genomes]
rs4711223	1.00[EUR][1000 genomes]
rs4713337	0.87[ASN][1000 genomes]
rs56684411	0.83[EUR][1000 genomes]
rs57691105	0.83[EUR][1000 genomes]
rs58716460	0.84[AMR][1000 genomes]
rs58871430	0.92[ASN][1000 genomes]
rs61109058	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61733218	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
4	chr6:30566400-30581000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:30568400-30580800	Strong transcription	GM12878-XiMat	blood
6	chr6:30574600-30582200	Weak transcription	Small Intestine	intestine
7	chr6:30574600-30582400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:30576400-30581600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:30577000-30580800	Genic enhancers	Primary B cells from cord blood	blood
10	chr6:30577000-30581800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:30577200-30580600	Enhancers	Adipose Nuclei	Adipose
12	chr6:30577200-30580800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:30577200-30582000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:30577200-30582200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:30577400-30580800	Weak transcription	Spleen	Spleen
16	chr6:30577400-30581000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:30577400-30582200	Weak transcription	Esophagus	oesophagus
18	chr6:30577400-30582200	Weak transcription	Lung	lung
19	chr6:30577400-30582200	Weak transcription	HSMMtube	muscle
20	chr6:30577600-30580600	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:30577600-30580800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:30577600-30582200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:30577600-30582200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:30577800-30580600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:30577800-30580600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:30577800-30581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:30577800-30581400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:30578000-30580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:30578000-30580600	Weak transcription	Brain Substantia Nigra	brain
30	chr6:30578000-30580600	Weak transcription	Hela-S3	cervix
31	chr6:30578000-30581200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:30578000-30581200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:30578000-30582000	Enhancers	Brain Anterior Caudate	brain
34	chr6:30578200-30580600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:30578200-30582000	Enhancers	Fetal Heart	heart
36	chr6:30578200-30582000	Genic enhancers	Dnd41	blood
37	chr6:30578200-30582200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:30578400-30581400	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:30578400-30581800	Enhancers	Brain Hippocampus Middle	brain
40	chr6:30578600-30581400	Enhancers	Colon Smooth Muscle	Colon
41	chr6:30578800-30580600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:30578800-30582200	Enhancers	Brain Angular Gyrus	brain
43	chr6:30579000-30581400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:30579000-30581400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:30579000-30581600	Enhancers	Primary T cells from cord blood	blood
46	chr6:30579000-30581600	Enhancers	Brain Germinal Matrix	brain
47	chr6:30579000-30581800	Genic enhancers	Fetal Thymus	thymus
48	chr6:30579000-30582200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:30579200-30580600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:30579200-30580600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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