Variant report

Variant	rs59727665
Chromosome Location	chr19:39107241-39107242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr19:39106900-39107308	GM12878	blood:	n/a	n/a
2	ELK1	chr19:39107118-39107316	GM12878	blood:	n/a	n/a
3	ZNF143	chr19:39106974-39107253	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:39107089-39107275	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:39106842-39107374	GM12892	blood:	n/a	n/a
6	IKZF1	chr19:39106873-39107382	GM12878	blood:	n/a	n/a
7	CHD1	chr19:39107174-39107529	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:39106887-39107538	GM12891	blood:	n/a	n/a
9	RUNX3	chr19:39106870-39107268	GM12878	blood:	n/a	n/a
10	ELF1	chr19:39107000-39107271	GM12878	blood:	n/a	n/a
11	ATF2	chr19:39106816-39107261	GM12878	blood:	n/a	n/a
12	MTA3	chr19:39106885-39107671	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:39106960-39107415	GM12878	blood:	n/a	n/a
14	WRNIP1	chr19:39106942-39107583	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:39107084-39107306	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:39107052-39107264	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39106830..39111691-chr19:39117375..39123240,7	MCF-7	breast:
2	chr19:39086098..39088583-chr19:39106611..39110096,5	K562	blood:
3	chr19:39103433..39106687-chr19:39106977..39109796,8	K562	blood:
4	chr19:39107241..39111219-chr19:39136508..39140596,7	K562	blood:
5	chr19:39105818..39107415-chr19:39115020..39117364,2	K562	blood:
6	chr19:39104481..39107303-chr19:39137807..39140302,2	K562	blood:
7	chr19:39103495..39106423-chr19:39106849..39111061,4	MCF-7	breast:
8	chr19:39101758..39105983-chr19:39106668..39109959,5	K562	blood:

No data

Variant related genes	Relation type
MAP4K1	TF binding region
EIF3K	TF binding region
ENSG00000267291	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000178982	Chromatin interaction
ENSG00000104814	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10408718	0.86[EUR][1000 genomes]
rs10413936	1.00[EUR][1000 genomes]
rs12461431	0.86[EUR][1000 genomes]
rs13345914	0.95[EUR][1000 genomes]
rs17847678	0.95[EUR][1000 genomes]
rs1978444	0.86[EUR][1000 genomes]
rs2098657	0.86[EUR][1000 genomes]
rs2287731	0.84[EUR][1000 genomes]
rs2287734	1.00[EUR][1000 genomes]
rs2287735	1.00[EUR][1000 genomes]
rs2303041	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2368477	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73552634	0.91[EUR][1000 genomes]
rs750437	1.00[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	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	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
3	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 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	chr19:39087200-39107800	Weak transcription	Colonic Mucosa	Colon
2	chr19:39087400-39107400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr19:39087400-39108200	Weak transcription	Gastric	stomach
4	chr19:39087400-39108800	Weak transcription	Right Atrium	heart
5	chr19:39092600-39109000	Weak transcription	Small Intestine	intestine
6	chr19:39096800-39108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:39097800-39108200	Weak transcription	Fetal Intestine Small	intestine
8	chr19:39098600-39108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:39102000-39108600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:39102200-39107400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:39103600-39107400	Weak transcription	Fetal Thymus	thymus
12	chr19:39103600-39108000	Weak transcription	Lung	lung
13	chr19:39103600-39108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:39104800-39108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:39105200-39107800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:39106200-39108600	Weak transcription	A549	lung
17	chr19:39106200-39108600	Weak transcription	HepG2	liver
18	chr19:39106200-39108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:39106400-39107800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr19:39106400-39108200	Weak transcription	K562	blood
21	chr19:39106600-39108200	Weak transcription	Placenta	Placenta
22	chr19:39106800-39107400	Enhancers	Primary T cells from cord blood	blood
23	chr19:39106800-39107800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr19:39106800-39107800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:39106800-39108000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:39106800-39108000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:39106800-39109600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr19:39107000-39107400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:39107000-39107400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr19:39107000-39107600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:39107000-39107600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr19:39107000-39108000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:39107000-39108000	Enhancers	Spleen	Spleen
34	chr19:39107000-39109200	Flanking Active TSS	Dnd41	blood
35	chr19:39107000-39109400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr19:39107000-39109600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr19:39107200-39107400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
38	chr19:39107200-39107600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr19:39107200-39107600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr19:39107200-39107800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:39107200-39107800	Enhancers	Thymus	Thymus
42	chr19:39107200-39108000	Enhancers	Primary hematopoietic stem cells	blood
43	chr19:39107200-39108000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:39107200-39108200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr19:39107200-39108600	Active TSS	GM12878-XiMat	blood
46	chr19:39107200-39109400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:39107200-39109600	Flanking Active TSS	Primary B cells from cord blood	blood

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