Variant report

Variant	rs532344921
Chromosome Location	chr19:52104480-52104481
allele	C/T
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:2)
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	CTCF	chr19:52104440-52104590	GM06990	blood:	n/a	n/a
2	CTCF	chr19:52104460-52104610	GM12875	blood:	n/a	n/a
3	ELF1	chr19:52104350-52104870	GM12878	blood:	n/a	n/a
4	CTCF	chr19:52104460-52104610	GM12864	blood:	n/a	n/a
5	CTCF	chr19:52104440-52104590	GM12865	blood:	n/a	n/a
6	CTCF	chr19:52104453-52104631	GM19238	blood:	n/a	n/a
7	EBF1	chr19:52104476-52104687	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:52104322-52104863	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:52104180-52104843	GM19193	blood:	n/a	n/a
10	CTCF	chr19:52104400-52104550	GM12870	blood:	n/a	n/a
11	POLR2A	chr19:52104475-52104641	GM12878	blood:	n/a	n/a
12	CTCF	chr19:52104480-52104630	GM12868	blood:	n/a	n/a
13	CTCF	chr19:52104467-52104633	GM19239	blood:	n/a	n/a
14	POLR2A	chr19:52103976-52106128	GM18505	blood:	n/a	n/a
15	CTCF	chr19:52104419-52104887	GM12891	blood:	n/a	n/a
16	CTCF	chr19:52104360-52104510	GM12866	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52095454..52097791-chr19:52104410..52105932,2	K562	blood:
2	chr19:52096005..52097791-chr19:52103717..52105932,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269388	TF binding region
ENSG00000167765	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
3	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
4	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
8	nsv9740	chr19:52096231-52107021	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv962988	chr19:52099340-52106095	Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv510771	chr19:52103717-52153348	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
12	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
13	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
15	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52098600-52105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:52098600-52110400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:52098800-52110600	Weak transcription	Brain Anterior Caudate	brain
4	chr19:52099400-52110800	Weak transcription	Pancreas	Pancrea
5	chr19:52102200-52105400	Weak transcription	Gastric	stomach
6	chr19:52103400-52104600	Flanking Active TSS	GM12878-XiMat	blood
7	chr19:52104000-52104600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:52104000-52104800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr19:52104000-52105000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
10	chr19:52104000-52105800	Active TSS	Duodenum Mucosa	Duodenum
11	chr19:52104200-52104600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:52104200-52104600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:52104200-52104600	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr19:52104200-52104600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr19:52104200-52104600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr19:52104200-52104600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:52104200-52104600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:52104200-52104600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:52104200-52104600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr19:52104200-52104600	Bivalent Enhancer	Right Ventricle	heart
21	chr19:52104200-52105000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:52104200-52105000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr19:52104200-52105000	Bivalent Enhancer	Spleen	Spleen
24	chr19:52104200-52105200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr19:52104400-52104600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
26	chr19:52104400-52104600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr19:52104400-52104600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:52104400-52104600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr19:52104400-52104600	Bivalent/Poised TSS	Fetal Thymus	thymus
30	chr19:52104400-52104600	Bivalent Enhancer	Left Ventricle	heart
31	chr19:52104400-52105000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
32	chr19:52104400-52105000	Bivalent/Poised TSS	Thymus	Thymus
33	chr19:52104400-52105200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:52104400-52105200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr19:52104400-52105800	Enhancers	Primary B cells from cord blood	blood
36	chr19:52104400-52110000	Weak transcription	Rectal Mucosa Donor 29	rectum

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