Variant report

Variant	rs2293687
Chromosome Location	chr19:36236000-36236001
allele	A/C
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	ZNF143	chr19:36235669-36236709	Hela-S3	cervix:	n/a	chr19:36235911-36235921 chr19:36236353-36236362 chr19:36236178-36236196 chr19:36236346-36236364 chr19:36236355-36236364
2	IRF3	chr19:36235796-36236037	GM12878	blood:	n/a	n/a
3	ATF3	chr19:36235508-36236824	A549	lung:	n/a	chr19:36236324-36236332 chr19:36236429-36236438
4	ETS1	chr19:36235556-36236130	K562	blood:	n/a	n/a
5	POLR2A	chr19:36235346-36236702	GM12878	blood:	n/a	n/a
6	GTF2F1	chr19:36235876-36236132	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr19:36235396-36236473	A549	lung:	n/a	n/a
8	TAF1	chr19:36235855-36236157	K562	blood:	n/a	n/a
9	POLR2A	chr19:36235931-36236033	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:36235891-36236119	A549	lung:	n/a	n/a
11	GABPA	chr19:36235610-36236721	MCF-7	breast:	n/a	chr19:36236473-36236482 chr19:36236473-36236484 chr19:36236411-36236422 chr19:36236470-36236484 chr19:36236413-36236422
12	YY1	chr19:36235944-36236608	K562	blood:	n/a	n/a
13	EP300	chr19:36235694-36236409	GM12878	blood:	n/a	n/a
14	MAX	chr19:36235184-36237068	A549	lung:	n/a	chr19:36235447-36235457 chr19:36236419-36236435
15	JUND	chr19:36235525-36237044	A549	lung:	n/a	chr19:36236599-36236607
16	POLR2A	chr19:36234509-36236730	GM12878	blood:	n/a	n/a
17	MXI1	chr19:36235293-36237237	IMR90	lung:	n/a	n/a
18	PML	chr19:36235871-36236137	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:36235711-36236364	H1-hESC	embryonic stem cell:	n/a	n/a
20	SPI1	chr19:36235819-36236077	K562	blood:	n/a	n/a
21	POLR2A	chr19:36235624-36236721	H1-neurons	neurons:	n/a	n/a
22	RCOR1	chr19:36235642-36236705	K562	blood:	n/a	n/a
23	ZNF143	chr19:36235734-36236745	GM12878	blood:	n/a	chr19:36235911-36235921 chr19:36236353-36236362 chr19:36236178-36236196 chr19:36236346-36236364 chr19:36236355-36236364
24	YY1	chr19:36235566-36236866	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr19:36235577-36236916	U87	brain:	n/a	n/a
26	FOSL2	chr19:36235499-36237055	A549	lung:	n/a	chr19:36236599-36236607
27	POLR2A	chr19:36235953-36236706	HepG2	liver:	n/a	n/a
28	TBP	chr19:36235634-36236808	K562	blood:	n/a	n/a
29	REST	chr19:36235591-36236371	A549	lung:	n/a	chr19:36235622-36235640
30	POLR2A	chr19:36235796-36236742	HUVEC	blood vessel:	n/a	n/a
31	ATF1	chr19:36235703-36236645	K562	blood:	n/a	n/a
32	YY1	chr19:36235806-36236775	SK-N-SH	brain:	n/a	n/a
33	YY1	chr19:36235743-36236715	K562	blood:	n/a	n/a
34	SIN3AK20	chr19:36235690-36236082	HepG2	liver:	n/a	n/a
35	HCFC1	chr19:36235725-36236757	K562	blood:	n/a	n/a
36	RAD21	chr19:36235552-36236016	H1-hESC	embryonic stem cell:	n/a	n/a
37	TBP	chr19:36235707-36236686	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr19:36235407-36236899	PANC-1	pancreas:	n/a	n/a
39	TAF1	chr19:36235679-36236804	A549	lung:	n/a	n/a
40	POLR2A	chr19:36235725-36236687	Gliobla	brain:	n/a	n/a
41	TCF12	chr19:36235610-36236810	ECC-1	luminal epithelium:	n/a	chr19:36236151-36236161
42	POLR2A	chr19:36235635-36236855	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr19:36235784-36236848	MCF10A-Er-Src	breast:	n/a	n/a
44	SMC3	chr19:36235630-36236049	Hela-S3	cervix:	n/a	n/a
45	TBP	chr19:36235591-36236554	GM12878	blood:	n/a	n/a
46	SPI1	chr19:36235791-36236120	GM12891	blood:	n/a	n/a
47	POLR2A	chr19:36235544-36236726	MCF-7	breast:	n/a	n/a
48	RFX5	chr19:36235745-36236055	GM12878	blood:	n/a	n/a
49	CREB1	chr19:36235656-36236625	A549	lung:	n/a	n/a
50	ARID3A	chr19:36235807-36236692	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
2	chr19:36223134..36225733-chr19:36234939..36237543,2	MCF-7	breast:
3	chr19:36035683..36038067-chr19:36234353..36237102,3	K562	blood:
4	chr11:64545307..64546190-chr19:36235841..36236593,2	Hela-S3	cervix:
5	chr19:36234776..36236564-chr19:36265019..36266986,2	K562	blood:
6	chr19:36234932..36236574-chr19:36258515..36260489,2	K562	blood:
7	chr19:36234786..36236387-chr19:36265803..36268215,2	MCF-7	breast:
8	chr19:35643125..35645834-chr19:36235394..36237704,2	K562	blood:
9	chr16:28564909..28565793-chr19:36235985..36236487,2	Hela-S3	cervix:
10	chr19:36034766..36037168-chr19:36234979..36237516,2	MCF-7	breast:
11	chr19:36235922..36238148-chr19:36359346..36361404,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-U2AF1L4-1	chr19:36234971-36236113	NONHSAT065900
2	lnc-U2AF1L4-1	chr19:36234971-36236113	NONHSAT065902

Variant related genes	Relation type
IGFLR1	TF binding region
ENSG00000188223	TF binding region
PSENEN	TF binding region
LIN37	TF binding region
U2AF1L4	TF binding region
ENSG00000089327	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000176476	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs107878	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11084828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11667696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11670414	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11671520	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11672164	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12151356	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12609803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776911	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3746278	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787051	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3848663	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3885794	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3885795	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806197	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806198	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4806201	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4806202	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58561864	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66747537	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv515536	chr19:36219525-36240960	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36234800-36236200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr19:36235000-36236000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr19:36235000-36237200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:36235000-36237800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:36235200-36236000	Flanking Active TSS	Dnd41	blood
6	chr19:36235200-36236200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr19:36235200-36237200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:36235200-36237200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:36235200-36237200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:36235200-36237400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:36235200-36237400	Active TSS	NHDF-Ad	bronchial
12	chr19:36235200-36237600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:36235200-36238000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:36235400-36236000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr19:36235400-36237200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:36235400-36237200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:36235400-36237600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:36235600-36236000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr19:36235600-36236600	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr19:36235600-36236600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr19:36235600-36236600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:36235600-36236800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr19:36235600-36236800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:36235600-36236800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:36235600-36236800	Active TSS	Primary T cells from cord blood	blood
26	chr19:36235600-36236800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:36235600-36236800	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr19:36235600-36236800	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr19:36235600-36236800	Active TSS	Brain Substantia Nigra	brain
30	chr19:36235600-36236800	Active TSS	Colon Smooth Muscle	Colon
31	chr19:36235600-36236800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr19:36235600-36236800	Active TSS	Stomach Mucosa	stomach
33	chr19:36235600-36237000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr19:36235600-36237000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:36235600-36237000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:36235600-36237000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:36235600-36237000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:36235600-36237000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:36235600-36237000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:36235600-36237000	Active TSS	Esophagus	oesophagus
41	chr19:36235600-36237000	Active TSS	Gastric	stomach
42	chr19:36235600-36237000	Active TSS	Placenta Amnion	Placenta Amnion
43	chr19:36235600-36237000	Active TSS	Right Atrium	heart
44	chr19:36235600-36237000	Active TSS	Small Intestine	intestine
45	chr19:36235600-36237000	Active TSS	Thymus	Thymus
46	chr19:36235600-36237000	Active TSS	GM12878-XiMat	blood
47	chr19:36235600-36237000	Active TSS	NH-A	brain
48	chr19:36235600-36237200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr19:36235600-36237200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:36235600-36237200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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