Variant report

Variant	rs2285419
Chromosome Location	chr19:36134208-36134209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr19:36134137-36134673	K562	blood:	n/a	n/a
2	MAFK	chr19:36134116-36134690	Hela-S3	cervix:	n/a	n/a
3	JUND	chr19:36133851-36135107	GM12878	blood:	n/a	chr19:36135014-36135023
4	PML	chr19:36134141-36134690	K562	blood:	n/a	n/a
5	SIN3AK20	chr19:36134159-36134669	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr19:36134006-36134798	GM15510	blood:	n/a	n/a
7	TAF1	chr19:36134189-36134642	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr19:36134171-36135706	GM18526	blood:	n/a	n/a
9	E2F4	chr19:36134167-36134778	K562	blood:	n/a	chr19:36134752-36134761 chr19:36134723-36134732 chr19:36134343-36134354
10	POLR2A	chr19:36134131-36134727	A549	lung:	n/a	n/a
11	ZC3H11A	chr19:36134000-36134688	K562	blood:	n/a	n/a
12	POLR2A	chr19:36133290-36134923	K562	blood:	n/a	n/a
13	NR2F2	chr19:36134156-36134770	MCF-7	breast:	n/a	n/a
14	MAX	chr19:36133964-36136330	A549	lung:	n/a	chr19:36136218-36136228 chr19:36136218-36136227 chr19:36134750-36134760
15	E2F6	chr19:36134085-36134580	K562	blood:	n/a	chr19:36134343-36134354
16	TAF1	chr19:36134080-36134771	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr19:36134035-36134728	K562	blood:	n/a	n/a
18	POLR2A	chr19:36134008-36134858	U87	brain:	n/a	n/a
19	TAF1	chr19:36134169-36134602	GM12878	blood:	n/a	n/a
20	TAF7	chr19:36134141-36134711	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB7A	chr19:36134111-36134842	K562	blood:	n/a	n/a
22	TAF1	chr19:36134127-36134658	K562	blood:	n/a	n/a
23	JUND	chr19:36134167-36134785	MCF-7	breast:	n/a	n/a
24	POLR2A	chr19:36134191-36134797	GM10847	blood:	n/a	n/a
25	POLR2A	chr19:36134190-36134880	MCF10A-Er-Src	breast:	n/a	n/a
26	ETS1	chr19:36134120-36134700	K562	blood:	n/a	n/a
27	POLR2A	chr19:36134205-36134474	GM12891	blood:	n/a	n/a
28	SIX5	chr19:36133838-36135243	A549	lung:	n/a	n/a
29	POLR2A	chr19:36133928-36134769	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr19:36134060-36135308	A549	lung:	n/a	n/a
31	EP300	chr19:36134158-36135200	A549	lung:	n/a	n/a
32	BHLHE40	chr19:36134178-36134993	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:36133655-36136509	HepG2	liver:	n/a	n/a
34	POLR2A	chr19:36133998-36134903	PFSK-1	brain:	n/a	n/a
35	EP300	chr19:36134207-36134790	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr19:36134029-36134659	SK-N-SH_RA	brain:	n/a	n/a
37	MAX	chr19:36134157-36134702	K562	blood:	n/a	n/a
38	SREBP1	chr19:36133710-36135823	GM12878	blood:	n/a	n/a
39	MAZ	chr19:36133877-36136311	K562	blood:	n/a	chr19:36136218-36136227 chr19:36134750-36134760
40	POLR2A	chr19:36134117-36134885	HUVEC	blood vessel:	n/a	n/a
41	CREB1	chr19:36133971-36134965	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:36134153-36134718	HEK293	kidney:	n/a	n/a
43	YY1	chr19:36134078-36134457	SK-N-SH_RA	brain:	n/a	n/a
44	KAP1	chr19:36134163-36134705	U2OS	brain:	n/a	n/a
45	YY1	chr19:36134191-36134566	GM12891	blood:	n/a	n/a
46	POLR2A	chr19:36134059-36136233	GM12892	blood:	n/a	n/a
47	ZBTB7A	chr19:36134190-36135370	ECC-1	luminal epithelium:	n/a	n/a
48	BCLAF1	chr19:36134161-36134638	GM12878	blood:	n/a	n/a
49	MXI1	chr19:36134182-36134793	K562	blood:	n/a	n/a
50	POLR2A	chr19:36134137-36135727	GM18505	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:35739560..35741618-chr19:36133175..36135201,2	K562	blood:
2	chr19:35772633..35774155-chr19:36132847..36134898,2	MCF-7	breast:
3	chr19:36048459..36050567-chr19:36133641..36135941,2	K562	blood:
4	chr19:36133193..36134764-chr20:62371084..62372843,2	MCF-7	breast:
5	chr19:36118103..36121861-chr19:36131558..36136331,8	MCF-7	breast:
6	chr19:36047553..36049280-chr19:36132209..36134429,2	MCF-7	breast:
7	chr19:36133592..36136218-chr19:36207471..36210079,2	MCF-7	breast:
8	chr19:35758925..35762628-chr19:36133039..36136228,4	MCF-7	breast:
9	chr19:36108327..36112195-chr19:36132084..36135351,3	MCF-7	breast:
10	chr19:36133563..36135897-chr19:36163303..36166624,3	K562	blood:
11	chr19:36118147..36121531-chr19:36133247..36136800,5	MCF-7	breast:
12	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
13	chr19:36133996..36135897-chr19:36164152..36166624,2	K562	blood:
14	chr19:35757206..35760502-chr19:36133299..36134978,3	K562	blood:
15	chr19:36034982..36037694-chr19:36132556..36134454,2	MCF-7	breast:
16	chr19:36048687..36051481-chr19:36131939..36134818,2	K562	blood:

No data

Variant related genes	Relation type
COX6B1	TF binding region
ETV2	TF binding region
ENSG00000105675	Chromatin interaction
ENSG00000125520	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000226510	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000126254	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403109	0.85[EUR][1000 genomes]
rs10415370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10418323	0.86[EUR][1000 genomes]
rs10418680	0.86[EUR][1000 genomes]
rs10420252	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10420286	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs12459935	0.85[CEU][hapmap];0.92[JPT][hapmap]
rs1544332	0.92[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs2267585	0.91[JPT][hapmap]
rs2311873	0.85[CEU][hapmap]
rs57405530	0.81[EUR][1000 genomes]
rs57411749	0.81[EUR][1000 genomes]
rs6510502	1.00[CEU][hapmap]
rs7249516	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[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];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv911629	chr19:36122886-36136449	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 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	chr19:36128000-36134400	Weak transcription	Fetal Kidney	kidney
2	chr19:36132400-36134400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:36132400-36136200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:36133400-36134600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36133400-36136600	Flanking Active TSS	Dnd41	blood
6	chr19:36133600-36134600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:36133600-36134600	Enhancers	Fetal Brain Male	brain
8	chr19:36133600-36136200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:36133800-36134400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:36133800-36134400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr19:36133800-36134600	Flanking Active TSS	Colonic Mucosa	Colon
12	chr19:36133800-36134800	Active TSS	Brain Germinal Matrix	brain
13	chr19:36133800-36134800	Enhancers	Fetal Heart	heart
14	chr19:36133800-36135800	Active TSS	Rectal Smooth Muscle	rectum
15	chr19:36133800-36136200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr19:36133800-36136400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:36133800-36136400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:36133800-36136400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:36133800-36136400	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr19:36134000-36134400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36134000-36134400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:36134000-36134400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:36134000-36134400	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:36134000-36134600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:36134000-36134600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr19:36134000-36134600	Active TSS	HepG2	liver
27	chr19:36134000-36134800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:36134000-36134800	Active TSS	Fetal Lung	lung
29	chr19:36134000-36134800	Active TSS	Right Ventricle	heart
30	chr19:36134000-36134800	Active TSS	Thymus	Thymus
31	chr19:36134000-36134800	Active TSS	GM12878-XiMat	blood
32	chr19:36134000-36135000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:36134000-36135600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:36134000-36135600	Active TSS	Brain Cingulate Gyrus	brain
35	chr19:36134000-36135600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr19:36134000-36135600	Active TSS	A549	lung
37	chr19:36134000-36135600	Active TSS	NHLF	lung
38	chr19:36134000-36136000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:36134000-36136000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr19:36134000-36136000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:36134000-36136000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr19:36134000-36136000	Active TSS	Colon Smooth Muscle	Colon
43	chr19:36134000-36136000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr19:36134000-36136000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr19:36134000-36136000	Flanking Active TSS	HMEC	breast
46	chr19:36134000-36136000	Active TSS	HSMM	muscle
47	chr19:36134000-36136200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr19:36134000-36136200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr19:36134000-36136200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr19:36134000-36136200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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