Variant report

Variant	rs34632325
Chromosome Location	chr19:36235655-36235656
allele	C/G
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	USF1	chr19:36235272-36235883	A549	lung:	n/a	n/a
2	ATF3	chr19:36235508-36236824	A549	lung:	n/a	chr19:36236324-36236332 chr19:36236429-36236438
3	ETS1	chr19:36235556-36236130	K562	blood:	n/a	n/a
4	MYBL2	chr19:36235486-36235988	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:36235346-36236702	GM12878	blood:	n/a	n/a
6	EP300	chr19:36235396-36236473	A549	lung:	n/a	n/a
7	RAD21	chr19:36235626-36235911	HepG2	liver:	n/a	n/a
8	GABPA	chr19:36235610-36236721	MCF-7	breast:	n/a	chr19:36236473-36236482 chr19:36236473-36236484 chr19:36236411-36236422 chr19:36236470-36236484 chr19:36236413-36236422
9	MAX	chr19:36235184-36237068	A549	lung:	n/a	chr19:36235447-36235457 chr19:36236419-36236435
10	JUND	chr19:36235525-36237044	A549	lung:	n/a	chr19:36236599-36236607
11	POLR2A	chr19:36234509-36236730	GM12878	blood:	n/a	n/a
12	MXI1	chr19:36235293-36237237	IMR90	lung:	n/a	n/a
13	POLR2A	chr19:36235624-36236721	H1-neurons	neurons:	n/a	n/a
14	RCOR1	chr19:36235642-36236705	K562	blood:	n/a	n/a
15	ZEB1	chr19:36235546-36235885	GM12878	blood:	n/a	n/a
16	YY1	chr19:36235566-36236866	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr19:36235577-36236916	U87	brain:	n/a	n/a
18	FOSL2	chr19:36235499-36237055	A549	lung:	n/a	chr19:36236599-36236607
19	TBP	chr19:36235634-36236808	K562	blood:	n/a	n/a
20	REST	chr19:36235591-36236371	A549	lung:	n/a	chr19:36235622-36235640
21	RAD21	chr19:36235552-36236016	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:36235407-36236899	PANC-1	pancreas:	n/a	n/a
23	TCF12	chr19:36235610-36236810	ECC-1	luminal epithelium:	n/a	chr19:36236151-36236161
24	POLR2A	chr19:36235635-36236855	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr19:36235630-36236049	Hela-S3	cervix:	n/a	n/a
26	TBP	chr19:36235591-36236554	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:36235544-36236726	MCF-7	breast:	n/a	n/a
28	POLR2A	chr19:36235534-36236729	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr19:36235621-36236078	IMR90	lung:	n/a	chr19:36235869-36235882
30	POLR2A	chr19:36235600-36236166	HepG2	liver:	n/a	n/a
31	IRF1	chr19:36235514-36236666	K562	blood:	n/a	chr19:36235609-36235623 chr19:36236551-36236563 chr19:36236552-36236566 chr19:36236584-36236593
32	POLR2A	chr19:36235585-36236836	SK-N-SH	brain:	n/a	n/a
33	SIN3A	chr19:36235651-36236774	GM12878	blood:	n/a	n/a
34	SP1	chr19:36235305-36236936	A549	lung:	n/a	chr19:36235611-36235620 chr19:36235626-36235640 chr19:36235610-36235619 chr19:36235667-36235681 chr19:36235609-36235621 chr19:36236173-36236182 chr19:36235610-36235620 chr19:36235449-36235458 chr19:36236735-36236744 chr19:36236734-36236744 chr19:36235611-36235620 chr19:36235608-36235615 chr19:36235610-36235620 chr19:36235609-36235621 chr19:36236671-36236680 chr19:36236734-36236744
35	KAP1	chr19:36235483-36235959	HEK293	kidney:	n/a	n/a
36	PAX5	chr19:36235549-36236537	GM12878	blood:	n/a	n/a
37	ETS1	chr19:36235629-36236972	A549	lung:	n/a	chr19:36236352-36236365 chr19:36236332-36236339 chr19:36236353-36236366 chr19:36236583-36236590 chr19:36236330-36236339
38	POLR2A	chr19:36235399-36236759	GM12878	blood:	n/a	n/a
39	STAT5A	chr19:36235559-36236263	GM12878	blood:	n/a	n/a
40	MAZ	chr19:36235547-36236675	Hela-S3	cervix:	n/a	chr19:36236419-36236435
41	MAX	chr19:36235414-36236728	MCF-7	breast:	n/a	chr19:36235447-36235457 chr19:36236419-36236435
42	MYC	chr19:36235601-36236703	K562	blood:	n/a	chr19:36236419-36236435
43	POLR2A	chr19:36235376-36236726	GM18505	blood:	n/a	n/a
44	RAD21	chr19:36235631-36236020	SK-N-SH_RA	brain:	n/a	n/a
45	MAX	chr19:36235382-36236842	A549	lung:	n/a	chr19:36235447-36235457 chr19:36236419-36236435
46	MAZ	chr19:36235328-36237351	IMR90	lung:	n/a	chr19:36235447-36235457 chr19:36236419-36236435
47	SIN3AK20	chr19:36235345-36236906	PANC-1	pancreas:	n/a	n/a
48	MAX	chr19:36235599-36236766	A549	lung:	n/a	chr19:36236419-36236435
49	GABPA	chr19:36235536-36236696	K562	blood:	n/a	chr19:36236473-36236482 chr19:36236473-36236484 chr19:36236411-36236422 chr19:36236470-36236484 chr19:36236413-36236422
50	CREB1	chr19:36235449-36236963	A549	lung:	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	chr19:36234776..36236564-chr19:36265019..36266986,2	K562	blood:
5	chr19:36234932..36236574-chr19:36258515..36260489,2	K562	blood:
6	chr19:36234786..36236387-chr19:36265803..36268215,2	MCF-7	breast:
7	chr19:35643125..35645834-chr19:36235394..36237704,2	K562	blood:
8	chr19:36034766..36037168-chr19:36234979..36237516,2	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
U2AF1L4	TF binding region
ENSG00000188223	TF binding region
LIN37	TF binding region
PSENEN	TF binding region
IGFLR1	TF binding region
ENSG00000105663	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11878987	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970645	1.00[ASN][1000 genomes]
rs16970648	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17638717	1.00[ASN][1000 genomes]
rs2234361	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2284149	1.00[ASN][1000 genomes]
rs231241	1.00[EUR][1000 genomes]
rs34485834	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35843967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58103380	1.00[ASN][1000 genomes]
rs59994522	1.00[ASN][1000 genomes]
rs7250756	1.00[ASN][1000 genomes]
rs7252936	0.81[EUR][1000 genomes]
rs7254581	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256373	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256726	1.00[ASN][1000 genomes]
rs7257917	1.00[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36234600-36235800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr19:36234800-36235800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr19:36234800-36235800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:36234800-36235800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr19:36234800-36235800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr19:36234800-36235800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:36234800-36236200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
8	chr19:36235000-36235800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr19:36235000-36235800	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr19:36235000-36235800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:36235000-36235800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:36235000-36235800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:36235000-36235800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:36235000-36235800	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr19:36235000-36236000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr19:36235000-36237200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:36235000-36237800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr19:36235200-36235800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:36235200-36235800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:36235200-36235800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr19:36235200-36235800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:36235200-36235800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr19:36235200-36235800	Flanking Active TSS	Liver	Liver
24	chr19:36235200-36235800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr19:36235200-36235800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr19:36235200-36235800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr19:36235200-36235800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr19:36235200-36235800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:36235200-36235800	Flanking Active TSS	Fetal Brain Female	brain
30	chr19:36235200-36235800	Flanking Active TSS	Fetal Thymus	thymus
31	chr19:36235200-36235800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr19:36235200-36235800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr19:36235200-36235800	Flanking Active TSS	Spleen	Spleen
34	chr19:36235200-36235800	Flanking Active TSS	Hela-S3	cervix
35	chr19:36235200-36235800	Flanking Active TSS	HepG2	liver
36	chr19:36235200-36235800	Flanking Active TSS	K562	blood
37	chr19:36235200-36235800	Flanking Active TSS	NHEK	skin
38	chr19:36235200-36235800	Flanking Active TSS	NHLF	lung
39	chr19:36235200-36235800	Flanking Active TSS	Osteobl	bone
40	chr19:36235200-36236000	Flanking Active TSS	Dnd41	blood
41	chr19:36235200-36236200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr19:36235200-36237200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:36235200-36237200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr19:36235200-36237200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:36235200-36237400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr19:36235200-36237400	Active TSS	NHDF-Ad	bronchial
47	chr19:36235200-36237600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr19:36235200-36238000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:36235400-36235800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:36235400-36235800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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