Variant report

Variant	rs2967451
Chromosome Location	chr19:37018645-37018646
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:37018624-37019887	K562	blood:	n/a	n/a
2	SIN3A	chr19:37018472-37020398	H1-hESC	embryonic stem cell:	n/a	chr19:37019675-37019684
3	GATA3	chr19:37018559-37020324	A549	lung:	n/a	n/a
4	TBP	chr19:37018302-37020382	GM12878	blood:	n/a	n/a
5	EBF1	chr19:37018293-37020496	GM12878	blood:	n/a	n/a
6	MXI1	chr19:37018241-37020454	SK-N-SH	brain:	n/a	n/a
7	CHD1	chr19:37018052-37020289	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:37018610-37020274	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr19:37017926-37020021	MCF10A-Er-Src	breast:	n/a	n/a
10	RELA	chr19:37018273-37020467	GM12891	blood:	n/a	n/a
11	ZKSCAN1	chr19:37018421-37020147	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:37018318-37020292	GM12891	blood:	n/a	n/a
13	POLR2A	chr19:37018617-37020225	HepG2	liver:	n/a	n/a
14	MAX	chr19:37018616-37020493	A549	lung:	n/a	n/a
15	POLR2A	chr19:37018365-37018672	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:37018590-37019871	K562	blood:	n/a	n/a
17	CHD1	chr19:37018536-37020422	GM12878	blood:	n/a	n/a
18	REST	chr19:37018599-37020216	H1-neurons	neurons:	n/a	chr19:37019672-37019686 chr19:37019651-37019664 chr19:37019674-37019684
19	SIN3AK20	chr19:37018624-37020053	A549	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36978821..36980790-chr19:37017858..37020685,3	K562	blood:
2	chr19:37017743..37019603-chr19:37263003..37264867,2	MCF-7	breast:
3	chr19:37014827..37016384-chr19:37017913..37020178,2	K562	blood:
4	chr19:36869703..36871321-chr19:37018127..37020542,2	K562	blood:
5	chr19:37018139..37019685-chr19:37156038..37157932,2	MCF-7	breast:
6	chr19:36979124..36982554-chr19:37017679..37020247,4	MCF-7	breast:
7	chr19:36978148..36981795-chr19:37018105..37021194,8	K562	blood:
8	chr19:37017852..37021325-chr19:37033943..37038779,6	K562	blood:
9	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
10	chr19:37012845..37016384-chr19:37017166..37020287,4	K562	blood:
11	chr19:37017989..37021035-chr19:37064029..37066517,3	MCF-7	breast:
12	chr19:37017864..37019585-chr19:37067468..37069306,2	K562	blood:

No data

Variant related genes	Relation type
ZNF260	TF binding region
ENSG00000228629	TF binding region
ENSG00000197808	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000142065	Chromatin interaction
ENSG00000267041	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000267260	Chromatin interaction
ENSG00000267309	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs2052730	0.85[ASN][1000 genomes]
rs2385796	0.94[CHB][hapmap]
rs2912420	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2912422	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2912424	0.85[ASN][1000 genomes]
rs2912426	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2912427	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2912428	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2912431	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2912434	0.88[ASN][1000 genomes]
rs2912436	0.87[ASN][1000 genomes]
rs2912437	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2912438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2945960	0.86[ASN][1000 genomes]
rs2945966	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945967	0.87[ASN][1000 genomes]
rs2945968	0.85[ASN][1000 genomes]
rs2945970	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs2945974	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2945977	0.85[ASN][1000 genomes]
rs2945979	1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945980	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2945982	0.89[ASN][1000 genomes]
rs2945987	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945988	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967432	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967434	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2967435	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2967441	0.87[ASN][1000 genomes]
rs2967448	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2967450	0.87[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs2967452	0.84[ASN][1000 genomes]
rs2967456	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967457	0.85[ASN][1000 genomes]
rs2967468	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967471	0.84[ASN][1000 genomes]
rs2967474	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967475	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2967532	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs2967533	0.83[CHB][hapmap]
rs2967542	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2967544	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3107237	0.89[CHB][hapmap];0.81[JPT][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3107238	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3111554	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37017600-37018800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr19:37017600-37019000	Active TSS	Right Atrium	heart
3	chr19:37017600-37020600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:37017600-37020600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:37017800-37018800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37017800-37018800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr19:37017800-37018800	Flanking Active TSS	Liver	Liver
8	chr19:37017800-37018800	Enhancers	Pancreas	Pancrea
9	chr19:37017800-37019000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr19:37017800-37019600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:37017800-37019800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:37017800-37019800	Active TSS	Fetal Kidney	kidney
13	chr19:37017800-37020000	Active TSS	Right Ventricle	heart
14	chr19:37017800-37020000	Active TSS	NHLF	lung
15	chr19:37017800-37020200	Active TSS	Fetal Muscle Trunk	muscle
16	chr19:37017800-37020600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:37017800-37020600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:37018000-37018800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:37018000-37019200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr19:37018000-37019600	Active TSS	Colonic Mucosa	Colon
21	chr19:37018000-37019800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:37018000-37019800	Active TSS	Stomach Smooth Muscle	stomach
23	chr19:37018000-37019800	Active TSS	HMEC	breast
24	chr19:37018000-37020000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:37018000-37020000	Active TSS	NHDF-Ad	bronchial
26	chr19:37018000-37020400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:37018000-37020400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:37018000-37020400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:37018000-37020400	Active TSS	HSMM	muscle
30	chr19:37018000-37021000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:37018000-37021000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr19:37018000-37021000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr19:37018200-37018800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:37018200-37018800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:37018200-37018800	Active TSS	HepG2	liver
36	chr19:37018200-37019400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr19:37018200-37019800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr19:37018200-37019800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:37018200-37019800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr19:37018200-37019800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:37018200-37019800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr19:37018200-37019800	Active TSS	Duodenum Mucosa	Duodenum
43	chr19:37018200-37019800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:37018200-37019800	Active TSS	Fetal Stomach	stomach
45	chr19:37018200-37019800	Active TSS	Rectal Smooth Muscle	rectum
46	chr19:37018200-37019800	Active TSS	Hela-S3	cervix
47	chr19:37018200-37019800	Active TSS	NH-A	brain
48	chr19:37018200-37019800	Active TSS	NHEK	skin
49	chr19:37018200-37020000	Active TSS	Brain Germinal Matrix	brain
50	chr19:37018200-37020000	Active TSS	HSMMtube	muscle

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