Variant report

Variant	rs73044948
Chromosome Location	chr19:38893430-38893431
allele	C/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	YY1	chr19:38893117-38894435	K562	blood:	n/a	chr19:38893702-38893716 chr19:38893945-38893954
2	RAD21	chr19:38893386-38893611	K562	blood:	n/a	n/a
3	CTCF	chr19:38893103-38894443	SK-N-SH	brain:	n/a	chr19:38893765-38893775 chr19:38893763-38893772 chr19:38893763-38893776 chr19:38893947-38893960 chr19:38893763-38893776 chr19:38893760-38893778 chr19:38893904-38893917 chr19:38893761-38893777 chr19:38893569-38893579
4	CREB1	chr19:38893223-38894059	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr19:38893341-38894362	A549	lung:	n/a	chr19:38894146-38894156 chr19:38893956-38893966 chr19:38893946-38893956 chr19:38894160-38894169
6	RAD21	chr19:38893320-38893990	HepG2	liver:	n/a	chr19:38893904-38893914 chr19:38893766-38893776 chr19:38893902-38893914 chr19:38893761-38893780
7	POLR2A	chr19:38893368-38894135	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr19:38893314-38893983	HepG2	liver:	n/a	chr19:38893904-38893914 chr19:38893766-38893776 chr19:38893902-38893914 chr19:38893761-38893780
9	MYC	chr19:38893344-38894406	K562	blood:	n/a	chr19:38894146-38894156 chr19:38893956-38893966 chr19:38893946-38893956 chr19:38894160-38894169
10	EP300	chr19:38893338-38893981	K562	blood:	n/a	chr19:38893947-38893963
11	POLR2A	chr19:38893365-38893574	HepG2	liver:	n/a	n/a
12	ATF3	chr19:38893164-38893988	A549	lung:	n/a	chr19:38893945-38893954
13	RAD21	chr19:38893234-38894074	A549	lung:	n/a	chr19:38893904-38893914 chr19:38893766-38893776 chr19:38893902-38893914 chr19:38893761-38893780
14	REST	chr19:38893208-38894484	A549	lung:	n/a	chr19:38893565-38893575 chr19:38893873-38893886 chr19:38893889-38893902
15	CHD1	chr19:38893411-38893569	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:38893326-38894060	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr19:38893409-38893954	GM12878	blood:	n/a	chr19:38893765-38893775 chr19:38893763-38893772 chr19:38893763-38893776 chr19:38893763-38893776 chr19:38893760-38893778 chr19:38893904-38893917 chr19:38893761-38893777 chr19:38893569-38893579
18	YY1	chr19:38893284-38893942	H1-hESC	embryonic stem cell:	n/a	chr19:38893702-38893716
19	CTCF	chr19:38893369-38894012	IMR90	lung:	n/a	chr19:38893765-38893775 chr19:38893763-38893772 chr19:38893763-38893776 chr19:38893947-38893960 chr19:38893763-38893776 chr19:38893760-38893778 chr19:38893904-38893917 chr19:38893761-38893777 chr19:38893569-38893579
20	MAX	chr19:38893300-38894515	K562	blood:	n/a	chr19:38894146-38894156 chr19:38893956-38893966 chr19:38893946-38893956 chr19:38894160-38894169
21	TCF7L2	chr19:38893254-38894172	HCT-116	colon:	n/a	n/a
22	CTCF	chr19:38893318-38893980	HepG2	liver:	n/a	chr19:38893765-38893775 chr19:38893763-38893772 chr19:38893763-38893776 chr19:38893947-38893960 chr19:38893763-38893776 chr19:38893760-38893778 chr19:38893904-38893917 chr19:38893761-38893777 chr19:38893569-38893579
23	SIN3AK20	chr19:38893191-38894231	A549	lung:	n/a	n/a
24	POLR2A	chr19:38893306-38894423	GM12878	blood:	n/a	n/a
25	MAX	chr19:38893332-38894300	NB4	blood:	n/a	chr19:38894146-38894156 chr19:38893956-38893966 chr19:38893946-38893956 chr19:38894160-38894169
26	MAZ	chr19:38893309-38894215	HepG2	liver:	n/a	chr19:38894146-38894156 chr19:38893956-38893966 chr19:38893946-38893956 chr19:38894160-38894169
27	MAX	chr19:38893413-38893876	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF7L2	chr19:38893328-38893783	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr19:38893397-38894225	Gliobla	brain:	n/a	n/a
30	TCF12	chr19:38893028-38894554	A549	lung:	n/a	n/a
31	UBTF	chr19:38893409-38894477	K562	blood:	n/a	n/a
32	YY1	chr19:38893263-38893613	GM12892	blood:	n/a	n/a
33	ZNF143	chr19:38893396-38893973	K562	blood:	n/a	n/a
34	POLR2A	chr19:38893321-38893878	HUVEC	blood vessel:	n/a	n/a
35	RCOR1	chr19:38893227-38894434	K562	blood:	n/a	n/a
36	SIN3A	chr19:38893412-38894347	GM12878	blood:	n/a	chr19:38893565-38893574
37	POLR2A	chr19:38893336-38894473	GM12878	blood:	n/a	n/a
38	RAD21	chr19:38893390-38893981	HepG2	liver:	n/a	chr19:38893904-38893914 chr19:38893766-38893776 chr19:38893902-38893914 chr19:38893761-38893780
39	BCLAF1	chr19:38893178-38893599	GM12878	blood:	n/a	n/a
40	CTCF	chr19:38893340-38893909	A549	lung:	n/a	chr19:38893765-38893775 chr19:38893763-38893772 chr19:38893763-38893776 chr19:38893763-38893776 chr19:38893760-38893778 chr19:38893761-38893777 chr19:38893569-38893579
41	CTBP2	chr19:38893356-38894414	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP1	chr19:38893298-38894002	GM12878	blood:	n/a	chr19:38893943-38893955 chr19:38893945-38893954 chr19:38893944-38893953 chr19:38893944-38893958 chr19:38893605-38893616 chr19:38893944-38893953 chr19:38893943-38893955 chr19:38893743-38893752
43	CREB1	chr19:38893243-38894020	K562	blood:	n/a	n/a
44	YY1	chr19:38893326-38894108	ECC-1	luminal epithelium:	n/a	chr19:38893702-38893716 chr19:38893945-38893954
45	POLR2A	chr19:38893332-38894422	GM18505	blood:	n/a	n/a
46	RAD21	chr19:38893292-38894474	ECC-1	luminal epithelium:	n/a	chr19:38893904-38893914 chr19:38893766-38893776 chr19:38893902-38893914 chr19:38893761-38893780
47	SRF	chr19:38893346-38893994	MCF-7	breast:	n/a	chr19:38893946-38893956
48	E2F6	chr19:38893402-38894260	H1-hESC	embryonic stem cell:	n/a	chr19:38893769-38893778 chr19:38893945-38893954 chr19:38893675-38893686
49	RAD21	chr19:38893350-38893949	SK-N-SH_RA	brain:	n/a	chr19:38893904-38893914 chr19:38893766-38893776 chr19:38893902-38893914 chr19:38893761-38893780
50	SP1	chr19:38893266-38894016	H1-hESC	embryonic stem cell:	n/a	chr19:38893943-38893955 chr19:38893945-38893954 chr19:38893944-38893953 chr19:38893944-38893958 chr19:38893605-38893616 chr19:38893944-38893953 chr19:38893943-38893955 chr19:38893743-38893752

No.	Distal block	Cell Line	Cell type
1	chr19:38890926..38893595-chr19:38978170..38979921,2	K562	blood:
2	chr19:38892832..38895683-chr19:38905614..38908476,2	K562	blood:
3	chr19:38892751..38895518-chr19:38905731..38908056,2	MCF-7	breast:
4	chr19:38864731..38867116-chr19:38892888..38894994,2	MCF-7	breast:
5	chr19:38864536..38866994-chr19:38891927..38895682,4	MCF-7	breast:
6	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:
7	chr19:38886501..38890187-chr19:38891290..38894154,6	MCF-7	breast:
8	chr19:38724234..38725570-chr19:38893025..38893769,4	K562	blood:
9	chr19:38893264..38895978-chr19:39340017..39342861,2	MCF-7	breast:
10	chr19:38873942..38878444-chr19:38892255..38895006,5	K562	blood:
11	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:
12	chr19:38892840..38895111-chr19:38906916..38908853,2	MCF-7	breast:
13	chr19:38810024..38812525-chr19:38892478..38895075,3	MCF-7	breast:
14	chr19:38891977..38893968-chr19:38915428..38917384,2	K562	blood:
15	chr19:38878160..38880019-chr19:38892423..38895031,2	MCF-7	breast:

Variant related genes	Relation type
FAM98C	TF binding region
ENSG00000188766	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000267473	Chromatin interaction
ENSG00000171777	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11083454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2302228	1.00[EUR][1000 genomes]
rs3745955	0.80[EUR][1000 genomes]
rs3745963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3760884	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57753437	0.93[EUR][1000 genomes]
rs59491640	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508791	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257976	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043029	0.81[EUR][1000 genomes]
rs73043030	0.93[EUR][1000 genomes]
rs73043033	0.93[EUR][1000 genomes]
rs73043098	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044923	0.80[EUR][1000 genomes]
rs73044926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv911661	chr19:38872335-38894829	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv911662	chr19:38872634-38895809	Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38892600-38893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:38893000-38894400	Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:38893200-38893600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:38893200-38893600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr19:38893200-38893600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr19:38893200-38893600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:38893200-38893600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:38893200-38893600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr19:38893200-38893600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr19:38893200-38893600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:38893200-38893600	Flanking Active TSS	Liver	Liver
12	chr19:38893200-38893600	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr19:38893200-38893600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr19:38893200-38893600	Flanking Active TSS	Placenta	Placenta
15	chr19:38893200-38893600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr19:38893200-38893600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr19:38893200-38893600	Flanking Active TSS	Dnd41	blood
18	chr19:38893200-38893600	Flanking Active TSS	Hela-S3	cervix
19	chr19:38893200-38893600	Flanking Active TSS	HUVEC	blood vessel
20	chr19:38893200-38893600	Flanking Active TSS	NH-A	brain
21	chr19:38893200-38893800	Active TSS	Primary hematopoietic stem cells	blood
22	chr19:38893200-38893800	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr19:38893200-38894000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:38893200-38894200	Active TSS	HMEC	breast
25	chr19:38893200-38894400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:38893200-38894400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr19:38893200-38894400	Active TSS	Fetal Lung	lung
28	chr19:38893200-38894600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr19:38893200-38894600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr19:38893200-38894600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:38893200-38894600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:38893200-38894600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:38893200-38894600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:38893200-38894600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:38893200-38894600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:38893200-38894600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:38893200-38894600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:38893200-38894600	Active TSS	Brain Cingulate Gyrus	brain
39	chr19:38893200-38894600	Active TSS	Brain Substantia Nigra	brain
40	chr19:38893200-38894600	Active TSS	Colon Smooth Muscle	Colon
41	chr19:38893200-38894600	Active TSS	Esophagus	oesophagus
42	chr19:38893200-38894600	Active TSS	Fetal Kidney	kidney
43	chr19:38893200-38894600	Active TSS	Left Ventricle	heart
44	chr19:38893200-38894600	Active TSS	Lung	lung
45	chr19:38893200-38894600	Active TSS	Ovary	ovary
46	chr19:38893200-38894600	Active TSS	Psoas Muscle	Psoas
47	chr19:38893200-38894600	Active TSS	Right Atrium	heart
48	chr19:38893200-38894600	Active TSS	Right Ventricle	heart
49	chr19:38893200-38894600	Active TSS	HSMM	muscle
50	chr19:38893200-38894600	Active TSS	HSMMtube	muscle

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