Variant report

Variant	rs2194976
Chromosome Location	chr19:37063534-37063535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:37062897-37065086	K562	blood:	n/a	chr19:37064515-37064524 chr19:37063533-37063540
2	GATA2	chr19:37063439-37063881	K562	blood:	n/a	n/a
3	REST	chr19:37063464-37065233	H1-neurons	neurons:	n/a	chr19:37064538-37064551
4	HCFC1	chr19:37063159-37065363	Hela-S3	cervix:	n/a	n/a
5	CEBPD	chr19:37063357-37064396	K562	blood:	n/a	n/a
6	MYC	chr19:37063257-37064543	A549	lung:	n/a	n/a
7	SREBP1	chr19:37063486-37065705	GM12878	blood:	n/a	n/a
8	SIN3A	chr19:37063325-37065413	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZC3H11A	chr19:37063291-37064403	K562	blood:	n/a	n/a
10	CEBPD	chr19:37063379-37064272	K562	blood:	n/a	n/a
11	GATA3	chr19:37063495-37064661	A549	lung:	n/a	n/a
12	TBL1XR1	chr19:37063501-37064409	K562	blood:	n/a	n/a
13	MXI1	chr19:37062890-37065821	SK-N-SH	brain:	n/a	n/a
14	ZNF263	chr19:37063335-37064446	HEK293-T-REx	kidney:	n/a	chr19:37063429-37063438
15	GATA1	chr19:37063268-37064303	PBDE	blood:	n/a	n/a
16	MXI1	chr19:37062659-37065381	IMR90	lung:	n/a	n/a
17	POLR2A	chr19:37063478-37065257	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr19:37063356-37064387	MCF10A-Er-Src	breast:	n/a	n/a
19	HCFC1	chr19:37063469-37064922	K562	blood:	n/a	n/a
20	JUND	chr19:37063304-37065162	K562	blood:	n/a	chr19:37064515-37064524 chr19:37063533-37063540
21	MAX	chr19:37063488-37065116	A549	lung:	n/a	chr19:37064538-37064548
22	ARID3A	chr19:37063435-37064342	K562	blood:	n/a	n/a
23	POLR2A	chr19:37063211-37065277	Hela-S3	cervix:	n/a	n/a
24	CUX1	chr19:37063471-37064373	K562	blood:	n/a	n/a
25	POLR2A	chr19:37063373-37064483	HepG2	liver:	n/a	n/a
26	MAZ	chr19:37063304-37064918	K562	blood:	n/a	chr19:37064538-37064548
27	MXI1	chr19:37063353-37064355	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36979193..36981748-chr19:37061672..37065426,4	K562	blood:
2	chr19:37019103..37021335-chr19:37062459..37064743,4	K562	blood:
3	chr19:37063014..37065659-chr19:37066533..37068326,2	MCF-7	breast:
4	chr19:37038594..37041681-chr19:37063019..37065867,3	K562	blood:
5	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:
6	chr19:37062757..37067111-chr19:37067178..37071986,8	K562	blood:
7	chr19:36940091..36943076-chr19:37061156..37065481,3	K562	blood:
8	chr19:37062686..37064573-chr19:37176993..37178796,2	MCF-7	breast:
9	chr19:37018711..37023188-chr19:37060299..37065354,5	K562	blood:
10	chr19:37037541..37041127-chr19:37063019..37065545,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233527	TF binding region
ENSG00000225975	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000189042	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000267309	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1035777	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10402182	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10403456	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10407919	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084861	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs11667894	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668432	0.82[ASN][1000 genomes]
rs11668689	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11669816	0.87[ASN][1000 genomes]
rs11670914	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11671382	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11672098	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12608459	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12608512	0.83[ASN][1000 genomes]
rs12610555	0.81[ASN][1000 genomes]
rs12610572	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1357879	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1464830	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1464831	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1525133	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17272386	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1985980	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2052728	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162296	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2912399	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912400	0.92[ASN][1000 genomes]
rs2912404	0.89[ASN][1000 genomes]
rs2912408	0.95[ASN][1000 genomes]
rs2912412	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912440	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2912442	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912443	0.98[ASN][1000 genomes]
rs2912444	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912446	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945964	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945978	0.82[ASN][1000 genomes]
rs2967427	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967429	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2967436	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2967437	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967438	0.95[ASN][1000 genomes]
rs2967439	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967440	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967442	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967459	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967461	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967463	0.94[ASN][1000 genomes]
rs2967464	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967473	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2967545	0.82[ASN][1000 genomes]
rs3096620	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096637	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108593	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108605	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35299345	0.82[ASN][1000 genomes]
rs4806338	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4806339	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806348	0.81[EUR][1000 genomes]
rs4806349	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55940011	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55965207	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60213885	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60297398	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61457535	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6510551	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66717711	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66783290	0.87[ASN][1000 genomes]
rs67258954	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67995015	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68012004	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246216	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7251805	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73609113	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7507224	1.00[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs8100381	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8108985	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826987	0.85[EUR][1000 genomes];0.83[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	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
2	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
3	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
4	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
5	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
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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	73 gene(s)	inside rSNPs	diseases
7	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2194976	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37054200-37063800	Weak transcription	Gastric	stomach
2	chr19:37054400-37063800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:37061600-37063800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:37062600-37065400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:37062800-37063600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:37062800-37063600	Flanking Active TSS	Fetal Heart	heart
7	chr19:37062800-37063800	Flanking Active TSS	Dnd41	blood
8	chr19:37062800-37064800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:37062800-37065000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:37062800-37065600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:37062800-37065600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr19:37062800-37065600	Active TSS	Colonic Mucosa	Colon
13	chr19:37062800-37065800	Active TSS	HMEC	breast
14	chr19:37062800-37066000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:37062800-37066000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr19:37063000-37063600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr19:37063000-37063600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr19:37063000-37063600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr19:37063000-37063600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:37063000-37063600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr19:37063000-37063600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:37063000-37063600	Flanking Active TSS	Liver	Liver
23	chr19:37063000-37063600	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr19:37063000-37063600	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr19:37063000-37063600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:37063000-37063600	Flanking Active TSS	Fetal Brain Female	brain
27	chr19:37063000-37063600	Flanking Active TSS	Hela-S3	cervix
28	chr19:37063000-37063600	Flanking Active TSS	K562	blood
29	chr19:37063000-37063600	Flanking Active TSS	NHEK	skin
30	chr19:37063000-37063800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr19:37063000-37063800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:37063000-37063800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:37063000-37063800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:37063000-37065200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:37063000-37065400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:37063000-37065400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:37063000-37065600	Active TSS	NHLF	lung
38	chr19:37063000-37065800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr19:37063000-37066000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr19:37063200-37063600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr19:37063200-37063600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:37063200-37063600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr19:37063200-37063600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:37063200-37063600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr19:37063200-37063600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr19:37063200-37063600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr19:37063200-37063600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:37063200-37063600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:37063200-37063600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr19:37063200-37063600	Flanking Active TSS	Brain Angular Gyrus	brain

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