Variant report

Variant	rs1262750
Chromosome Location	chr19:36192608-36192609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36192490-36192756	GM12878	blood:	n/a	n/a
2	E2F6	chr19:36192577-36192744	K562	blood:	n/a	n/a
3	MAX	chr19:36192539-36192854	K562	blood:	n/a	n/a
4	POLR2A	chr19:36192278-36194033	GM12878	blood:	n/a	n/a
5	FOXA2	chr19:36192543-36193904	A549	lung:	n/a	n/a
6	POLR2A	chr19:36192541-36194113	GM12878	blood:	n/a	n/a
7	MAX	chr19:36192571-36192727	K562	blood:	n/a	n/a
8	RUNX3	chr19:36192408-36192624	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36183210..36186350-chr19:36190384..36192650,3	K562	blood:
2	chr19:36190946..36193857-chr19:36221816..36224169,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB32-3	chr19:36192573-36192924	NONHSAT065887

No data

Variant related genes	Relation type
ZBTB32	TF binding region
ENSG00000105663	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1262746	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1262751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1268319	1.00[YRI][hapmap]
rs179569	1.00[AMR][1000 genomes]
rs231215	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs231219	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs231220	1.00[AMR][1000 genomes]
rs231224	1.00[AMR][1000 genomes]
rs231239	1.00[AMR][1000 genomes]
rs231240	1.00[AMR][1000 genomes]
rs231587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231595	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2428145	1.00[AMR][1000 genomes]
rs2520310	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73931233	1.00[AMR][1000 genomes]
rs807490	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv961286	chr19:36187862-36199437	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv138418	chr19:36190656-36193931	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36179200-36192800	Weak transcription	Right Atrium	heart
2	chr19:36183000-36193000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:36189600-36193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:36191200-36192800	Weak transcription	Pancreas	Pancrea
5	chr19:36191400-36192800	Weak transcription	HepG2	liver
6	chr19:36192400-36192800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr19:36192600-36192800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:36192600-36192800	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:36192600-36192800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr19:36192600-36192800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr19:36192600-36192800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr19:36192600-36192800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:36192600-36192800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:36192600-36192800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr19:36192600-36192800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:36192600-36192800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:36192600-36192800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:36192600-36192800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr19:36192600-36192800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:36192600-36192800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr19:36192600-36192800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:36192600-36192800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr19:36192600-36192800	Enhancers	Colonic Mucosa	Colon
24	chr19:36192600-36192800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr19:36192600-36192800	Flanking Active TSS	GM12878-XiMat	blood
26	chr19:36192600-36193000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr19:36192600-36193000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:36192600-36193000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:36192600-36193000	Enhancers	Placenta	Placenta
30	chr19:36192600-36193000	Enhancers	Fetal Thymus	thymus
31	chr19:36192600-36193600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:36192600-36194000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:36192600-36194200	Flanking Active TSS	Dnd41	blood

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