Variant report

Variant	rs73031792
Chromosome Location	chr19:35837694-35837695
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	USF2	chr19:35837485-35839010	GM12878	blood:	n/a	n/a
2	NFIC	chr19:35837299-35838965	GM12878	blood:	n/a	n/a
3	CUX1	chr19:35837331-35839042	GM12878	blood:	n/a	n/a
4	IRF4	chr19:35837419-35838009	GM12878	blood:	n/a	n/a
5	BHLHE40	chr19:35836713-35839191	GM12878	blood:	n/a	n/a
6	MYC	chr19:35837525-35837884	GM12878	blood:	n/a	n/a
7	EP300	chr19:35837222-35837878	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:35837590-35837944	HL-60	blood:	n/a	n/a
9	ELF1	chr19:35837303-35837996	GM12878	blood:	n/a	n/a
10	ATF2	chr19:35837247-35839038	GM12878	blood:	n/a	n/a
11	TAF1	chr19:35837582-35837906	GM12878	blood:	n/a	n/a
12	FOXM1	chr19:35837220-35839303	GM12878	blood:	n/a	n/a
13	TCF3	chr19:35837532-35837796	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:35834081-35844229	GM12878	blood:	n/a	n/a
15	TCF12	chr19:35837544-35837906	GM12878	blood:	n/a	n/a
16	PAX5	chr19:35837468-35837927	GM12878	blood:	n/a	n/a
17	POU2F2	chr19:35837429-35838951	GM12878	blood:	n/a	chr19:35838670-35838677 chr19:35838668-35838678 chr19:35838666-35838681 chr19:35838665-35838683 chr19:35838667-35838681 chr19:35838667-35838679 chr19:35838668-35838678 chr19:35838669-35838678
18	POLR2A	chr19:35836311-35839226	GM12878	blood:	n/a	n/a
19	NFATC1	chr19:35837459-35838043	GM12878	blood:	n/a	n/a
20	CHD1	chr19:35837266-35839139	GM12878	blood:	n/a	n/a
21	ATF2	chr19:35837301-35839275	GM12878	blood:	n/a	n/a
22	YY1	chr19:35837434-35837954	GM12878	blood:	n/a	n/a
23	BCL3	chr19:35837388-35839100	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:35836562-35839254	GM18951	blood:	n/a	n/a
25	SPI1	chr19:35837536-35837820	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:35836286-35839245	GM12892	blood:	n/a	n/a
27	POLR2A	chr19:35836339-35843943	GM19193	blood:	n/a	n/a
28	EP300	chr19:35836855-35839120	GM12878	blood:	n/a	n/a
29	REST	chr19:35837609-35837812	GM12878	blood:	n/a	n/a
30	CEBPB	chr19:35837564-35837844	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:35837669-35837833	K562	blood:	n/a	n/a
32	EP300	chr19:35837269-35838959	GM12878	blood:	n/a	n/a
33	RELA	chr19:35837462-35837920	GM18526	blood:	n/a	n/a
34	PML	chr19:35836159-35841607	GM12878	blood:	n/a	n/a
35	BCL11A	chr19:35837553-35837810	GM12878	blood:	n/a	n/a
36	CREB1	chr19:35837266-35839064	GM12878	blood:	n/a	n/a
37	EP300	chr19:35837508-35837951	GM12878	blood:	n/a	n/a
38	MTA3	chr19:35837234-35839313	GM12878	blood:	n/a	n/a
39	SP1	chr19:35837378-35837957	GM12878	blood:	n/a	n/a
40	BCLAF1	chr19:35836768-35839223	GM12878	blood:	n/a	chr19:35839148-35839157
41	IRF4	chr19:35837442-35837983	GM12878	blood:	n/a	n/a
42	RELA	chr19:35836740-35839176	GM18951	blood:	n/a	n/a
43	RELA	chr19:35836498-35839120	GM18505	blood:	n/a	n/a
44	BATF	chr19:35837455-35837904	GM12878	blood:	n/a	n/a
45	MYC	chr19:35837601-35837841	K562	blood:	n/a	n/a
46	POLR2A	chr19:35836392-35841540	GM12878	blood:	n/a	n/a
47	RELA	chr19:35837316-35839118	GM19099	blood:	n/a	n/a
48	BCL11A	chr19:35837432-35837923	GM12878	blood:	n/a	n/a
49	TCF12	chr19:35837559-35837857	GM12878	blood:	n/a	n/a
50	POU2F2	chr19:35837416-35839185	GM12891	blood:	n/a	chr19:35838670-35838677 chr19:35838668-35838678 chr19:35838666-35838681 chr19:35838665-35838683 chr19:35838667-35838681 chr19:35838667-35838679 chr19:35838668-35838678 chr19:35838669-35838678

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35759183..35761582-chr19:35836760..35840257,3	MCF-7	breast:
2	chr19:35837012..35839854-chr19:35847612..35849842,2	MCF-7	breast:

Variant related genes	Relation type
FFAR1	TF binding region
ENSG00000105698	Chromatin interaction
ENSG00000185897	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10405046	1.00[ASN][1000 genomes]
rs10406510	1.00[ASN][1000 genomes]
rs10407971	1.00[ASN][1000 genomes]
rs10408664	1.00[ASN][1000 genomes]
rs10416356	1.00[ASN][1000 genomes]
rs12974702	1.00[ASN][1000 genomes]
rs16970396	1.00[ASN][1000 genomes]
rs17705291	1.00[ASN][1000 genomes]
rs35001809	1.00[ASN][1000 genomes]
rs73928205	1.00[ASN][1000 genomes]
rs916668	1.00[ASN][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	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	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1828194	chr19:35812566-35865695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067129	chr19:35827036-35849310	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv173	chr19:35837405-35866835	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2471	chr19:35837405-35903115	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:35825400-35838200	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr19:35825400-35838200	Strong transcription	Ovary	ovary
4	chr19:35828400-35838200	Strong transcription	Brain Hippocampus Middle	brain
5	chr19:35832800-35838800	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr19:35835400-35838000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:35835600-35839800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:35835800-35840000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:35836400-35838200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:35836400-35838200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr19:35836400-35840400	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:35836600-35837800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr19:35836600-35838000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:35836600-35838600	Enhancers	K562	blood
15	chr19:35836600-35839000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:35836600-35839000	Bivalent Enhancer	Placenta	Placenta
17	chr19:35836600-35839200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr19:35836600-35839800	Enhancers	Fetal Thymus	thymus
19	chr19:35836800-35837800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:35836800-35837800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:35836800-35838800	Enhancers	HepG2	liver
22	chr19:35836800-35839200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:35836800-35839200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:35836800-35843800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:35836800-35848000	Weak transcription	Brain Substantia Nigra	brain
26	chr19:35837000-35838000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:35837000-35838000	Enhancers	Primary T cells from cord blood	blood
28	chr19:35837000-35838000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr19:35837000-35838200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr19:35837000-35839200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:35837000-35839200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:35837000-35839200	Enhancers	Duodenum Mucosa	Duodenum
33	chr19:35837200-35838000	Enhancers	Primary B cells from cord blood	blood
34	chr19:35837400-35837800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:35837400-35837800	Enhancers	HMEC	breast
36	chr19:35837400-35838200	Enhancers	Colonic Mucosa	Colon
37	chr19:35837400-35838200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr19:35837400-35839200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:35837400-35839200	Bivalent Enhancer	Dnd41	blood
40	chr19:35837400-35839400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr19:35837400-35840800	Enhancers	Spleen	Spleen
42	chr19:35837600-35838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:35837600-35838200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:35837600-35838400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr19:35837600-35838600	Enhancers	Lung	lung
46	chr19:35837600-35838600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr19:35837600-35843600	Weak transcription	Brain Anterior Caudate	brain

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