Variant report

Variant	rs1050483
Chromosome Location	chr19:19303802-19303803
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	POLR2A	chr19:19303671-19303997	GM12891	blood:	n/a	n/a
2	EGR1	chr19:19302846-19303816	K562	blood:	n/a	chr19:19303698-19303707 chr19:19303687-19303700 chr19:19303685-19303695 chr19:19303580-19303589 chr19:19303686-19303696
3	POLR2A	chr19:19303552-19303967	GM12878	blood:	n/a	n/a
4	MAX	chr19:19302768-19303858	SK-N-SH	brain:	n/a	n/a
5	GABPA	chr19:19302338-19303853	MCF-7	breast:	n/a	chr19:19303697-19303706 chr19:19303502-19303516 chr19:19303686-19303695 chr19:19303697-19303711 chr19:19303502-19303513 chr19:19303694-19303708 chr19:19303496-19303510 chr19:19303579-19303590 chr19:19303697-19303708 chr19:19303579-19303593
6	TBP	chr19:19302666-19304041	K562	blood:	n/a	n/a
7	NRF1	chr19:19303222-19303892	H1-hESC	embryonic stem cell:	n/a	chr19:19303697-19303706 chr19:19303502-19303516 chr19:19303686-19303695 chr19:19303697-19303711 chr19:19303502-19303513 chr19:19303694-19303708 chr19:19303496-19303510 chr19:19303501-19303512 chr19:19303579-19303590 chr19:19303697-19303708 chr19:19303579-19303593
8	POLR2A	chr19:19302595-19304018	HL-60	blood:	n/a	n/a
9	POLR2A	chr19:19302696-19304091	Raji	blood:	n/a	n/a
10	POLR2A	chr19:19302745-19303846	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:19303690-19303836	HepG2	liver:	n/a	n/a
12	SP1	chr19:19302646-19303857	A549	lung:	n/a	chr19:19303686-19303695 chr19:19303537-19303547 chr19:19303537-19303546 chr19:19303427-19303437 chr19:19303536-19303548 chr19:19303685-19303697 chr19:19303685-19303697 chr19:19303426-19303438 chr19:19303537-19303551 chr19:19303426-19303438 chr19:19303536-19303548 chr19:19303428-19303437 chr19:19303686-19303696 chr19:19303682-19303696 chr19:19303427-19303436 chr19:19303617-19303627 chr19:19303296-19303307 chr19:19303538-19303547 chr19:19303687-19303696
13	POLR2A	chr19:19302499-19304322	SK-N-MC	brain:	n/a	n/a
14	TAF1	chr19:19303589-19303904	K562	blood:	n/a	n/a
15	RELA	chr19:19302739-19303928	GM12892	blood:	n/a	n/a
16	POLR2A	chr19:19303693-19303949	HUVEC	blood vessel:	n/a	n/a
17	SP1	chr19:19302714-19303805	A549	lung:	n/a	chr19:19303686-19303695 chr19:19303537-19303547 chr19:19303537-19303546 chr19:19303427-19303437 chr19:19303536-19303548 chr19:19303685-19303697 chr19:19303685-19303697 chr19:19303426-19303438 chr19:19303537-19303551 chr19:19303426-19303438 chr19:19303536-19303548 chr19:19303428-19303437 chr19:19303686-19303696 chr19:19303682-19303696 chr19:19303427-19303436 chr19:19303617-19303627 chr19:19303296-19303307 chr19:19303538-19303547 chr19:19303687-19303696
18	POLR2A	chr19:19303623-19303906	GM12891	blood:	n/a	n/a
19	POLR2A	chr19:19302781-19303818	HepG2	liver:	n/a	n/a
20	MAX	chr19:19302593-19303910	A549	lung:	n/a	n/a
21	ELK1	chr19:19302809-19303904	Hela-S3	cervix:	n/a	n/a
22	MYC	chr19:19303700-19303935	HUVEC	blood vessel:	n/a	n/a
23	STAT3	chr19:19303793-19304142	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:19302611-19304027	GM12892	blood:	n/a	n/a
25	ZNF384	chr19:19302182-19304452	K562	blood:	n/a	n/a
26	TAF1	chr19:19303680-19303926	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:19303611-19304001	ECC-1	luminal epithelium:	n/a	n/a
28	MAZ	chr19:19302823-19304165	Hela-S3	cervix:	n/a	n/a
29	TBL1XR1	chr19:19302798-19303975	GM12878	blood:	n/a	n/a
30	MAX	chr19:19302776-19304229	NB4	blood:	n/a	n/a
31	POLR2A	chr19:19303744-19303805	A549	lung:	n/a	n/a
32	MAX	chr19:19302689-19304194	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr19:19302476-19304079	K562	blood:	n/a	n/a
34	POLR2A	chr19:19302043-19304646	K562	blood:	n/a	n/a
35	SMC3	chr19:19302773-19304075	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:19302694-19303984	GM15510	blood:	n/a	n/a
37	HCFC1	chr19:19302344-19304179	Hela-S3	cervix:	n/a	n/a
38	TBP	chr19:19302770-19304084	GM12878	blood:	n/a	n/a
39	MAZ	chr19:19302757-19304151	K562	blood:	n/a	n/a
40	POLR2A	chr19:19302722-19304110	K562	blood:	n/a	n/a
41	MAX	chr19:19302673-19304208	MCF-7	breast:	n/a	n/a
42	RELA	chr19:19302698-19304118	GM18505	blood:	n/a	n/a
43	IRF1	chr19:19302768-19304126	K562	blood:	n/a	chr19:19303424-19303438 chr19:19303685-19303699 chr19:19303534-19303548
44	MAX	chr19:19302631-19303825	MCF-7	breast:	n/a	n/a
45	POLR2A	chr19:19303659-19303813	A549	lung:	n/a	n/a
46	POLR2A	chr19:19302684-19304089	GM19099	blood:	n/a	n/a
47	CTCF	chr19:19303774-19303937	K562	blood:	n/a	n/a
48	POLR2A	chr19:19303691-19303868	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:19302746-19303941	Hela-S3	cervix:	n/a	n/a
50	HEY1	chr19:19303591-19303967	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19279506..19282646-chr19:19302669..19304636,3	MCF-7	breast:
2	chr19:19143660..19145632-chr19:19301840..19304072,2	MCF-7	breast:
3	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
4	chr19:19301203..19304689-chr19:19429627..19432561,5	MCF-7	breast:
5	chr19:19302763..19305800-chr19:19307599..19310833,3	MCF-7	breast:
6	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
7	chr17:7475687..7476521-chr19:19303646..19304240,2	NB4	blood:
8	chr19:19286456..19293705-chr19:19298673..19304955,13	K562	blood:
9	chr19:19301845..19303815-chr19:19429491..19431433,2	K562	blood:
10	chr19:19142422..19145596-chr19:19300959..19304249,3	K562	blood:
11	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:
12	chr19:19302936..19305152-chr19:19382979..19386540,3	MCF-7	breast:
13	chr19:19301631..19304213-chr19:19625502..19628076,2	MCF-7	breast:
14	chr19:19301788..19305469-chr19:19308325..19310505,4	K562	blood:
15	chr19:19303122..19305309-chr19:19496096..19498095,2	K562	blood:
16	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
17	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:
18	chr19:19291324..19295055-chr19:19301522..19304242,3	MCF-7	breast:
19	chr19:18682067..18684109-chr19:19302288..19304450,2	K562	blood:

Variant related genes	Relation type
RFXANK	TF binding region
MEF2B	TF binding region
MEF2BNB	TF binding region
MEF2BNB-MEF2B	TF binding region
ENSG00000105705	Chromatin interaction
ENSG00000267629	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000213996	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000184162	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000186010	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10401713	0.90[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10403193	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10409380	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10409894	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10412238	0.90[CEU][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10424365	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2283626	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28618105	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56007657	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7250569	0.91[TSI][hapmap]
rs73537466	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv933613	chr19:19291456-19312244	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv961283	chr19:19293486-19312277	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 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	chr19:19301600-19304400	Active TSS	K562	blood
2	chr19:19301600-19304600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:19301800-19304200	Active TSS	Fetal Kidney	kidney
4	chr19:19301800-19304400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:19301800-19304400	Active TSS	HMEC	breast
6	chr19:19301800-19304600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:19301800-19304600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:19301800-19304600	Active TSS	Psoas Muscle	Psoas
9	chr19:19301800-19304600	Active TSS	GM12878-XiMat	blood
10	chr19:19301800-19305000	Active TSS	A549	lung
11	chr19:19302000-19304000	Active TSS	NHEK	skin
12	chr19:19302000-19304200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr19:19302000-19304200	Active TSS	Fetal Intestine Large	intestine
14	chr19:19302000-19304200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:19302000-19304200	Active TSS	Gastric	stomach
16	chr19:19302000-19304200	Active TSS	Ovary	ovary
17	chr19:19302000-19304400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:19302000-19304400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr19:19302000-19304400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:19302000-19304400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:19302000-19304400	Active TSS	Right Ventricle	heart
22	chr19:19302000-19304400	Active TSS	Hela-S3	cervix
23	chr19:19302000-19304600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr19:19302000-19304600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:19302000-19304600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr19:19302000-19304600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr19:19302000-19304600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:19302000-19304600	Active TSS	Colon Smooth Muscle	Colon
29	chr19:19302000-19304600	Active TSS	HSMMtube	muscle
30	chr19:19302000-19304600	Active TSS	NH-A	brain
31	chr19:19302000-19304600	Active TSS	NHLF	lung
32	chr19:19302000-19304800	Active TSS	HSMM	muscle
33	chr19:19302200-19304000	Active TSS	Pancreas	Pancrea
34	chr19:19302200-19304000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:19302200-19304200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr19:19302200-19304200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:19302200-19304200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:19302200-19304200	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr19:19302200-19304200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:19302200-19304200	Active TSS	Aorta	Aorta
41	chr19:19302200-19304200	Active TSS	Brain Angular Gyrus	brain
42	chr19:19302200-19304200	Active TSS	Esophagus	oesophagus
43	chr19:19302200-19304200	Active TSS	Lung	lung
44	chr19:19302200-19304200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr19:19302200-19304200	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr19:19302200-19304200	Active TSS	Small Intestine	intestine
47	chr19:19302200-19304200	Active TSS	Stomach Mucosa	stomach
48	chr19:19302200-19304200	Active TSS	Spleen	Spleen
49	chr19:19302200-19304400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:19302200-19304400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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