Variant report

Variant	rs533538372
Chromosome Location	chr4:16230096-16230097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr4:16229994-16230312	K562	blood:	n/a	n/a
2	POLR2A	chr4:16228635-16234024	K562	blood:	n/a	n/a
3	ZNF384	chr4:16229881-16230885	K562	blood:	n/a	n/a
4	POLR2A	chr4:16229991-16230145	K562	blood:	n/a	n/a
5	YY1	chr4:16229964-16230325	K562	blood:	n/a	n/a
6	POLR2A	chr4:16229922-16230322	K562	blood:	n/a	n/a
7	UBTF	chr4:16227439-16230550	K562	blood:	n/a	n/a
8	ARID3A	chr4:16230039-16230251	K562	blood:	n/a	n/a
9	TBP	chr4:16229823-16230428	K562	blood:	n/a	n/a
10	POLR2A	chr4:16226783-16230420	Raji	blood:	n/a	n/a
11	MYC	chr4:16230055-16230113	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15002785..15006911-chr4:16226901..16230678,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD38-2	chr4:16228286-16230207	ENSG00000263327.2

No data

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000137449	Chromatin interaction
ENSG00000247624	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv593778	chr4:16227851-16233787	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv967728	chr4:16229943-16232845	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16225600-16230800	Active TSS	A549	lung
2	chr4:16226400-16230600	Active TSS	GM12878-XiMat	blood
3	chr4:16226600-16230800	Active TSS	K562	blood
4	chr4:16226800-16230600	Active TSS	Brain Anterior Caudate	brain
5	chr4:16227000-16230600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:16227000-16230600	Active TSS	Brain Cingulate Gyrus	brain
7	chr4:16227000-16230800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:16227200-16230600	Active TSS	Colonic Mucosa	Colon
9	chr4:16228600-16230600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr4:16228800-16230600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:16228800-16230800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr4:16229200-16230200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr4:16229200-16230200	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr4:16229200-16230200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr4:16229200-16230200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr4:16229200-16230200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:16229200-16230200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr4:16229200-16231000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:16229400-16230200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr4:16229400-16230200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:16229400-16230600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:16229400-16231600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:16229400-16241000	Weak transcription	Aorta	Aorta
24	chr4:16229600-16230200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:16229600-16230200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:16229600-16230200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:16229600-16230200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:16229600-16230200	Enhancers	Fetal Brain Male	brain
29	chr4:16229600-16230200	Enhancers	Placenta	Placenta
30	chr4:16229600-16230200	Bivalent/Poised TSS	Thymus	Thymus
31	chr4:16229600-16230600	Enhancers	Liver	Liver
32	chr4:16229600-16233000	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:16229600-16233200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:16229600-16233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:16229600-16233400	Weak transcription	Right Atrium	heart
36	chr4:16229600-16234200	Weak transcription	Brain Germinal Matrix	brain
37	chr4:16229600-16235400	Weak transcription	Left Ventricle	heart
38	chr4:16229600-16237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:16229600-16254000	Weak transcription	Ovary	ovary
40	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
41	chr4:16229800-16230200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr4:16229800-16230200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:16229800-16230200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:16229800-16230200	Active TSS	Adipose Nuclei	Adipose
45	chr4:16229800-16230200	Active TSS	Brain Hippocampus Middle	brain
46	chr4:16229800-16230400	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:16229800-16230400	Active TSS	Rectal Smooth Muscle	rectum
48	chr4:16229800-16230600	Enhancers	Brain Substantia Nigra	brain
49	chr4:16229800-16230600	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr4:16229800-16230800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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