Variant report

Variant	rs550972154
Chromosome Location	chr4:16229550-16229551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:16228634-16229587	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:16228635-16234024	K562	blood:	n/a	n/a
3	MAZ	chr4:16227203-16229671	IMR90	lung:	n/a	chr4:16228103-16228113
4	POLR2A	chr4:16228631-16229924	U87	brain:	n/a	n/a
5	MXI1	chr4:16227193-16229611	IMR90	lung:	n/a	n/a
6	POLR2A	chr4:16226799-16229901	GM12891	blood:	n/a	n/a
7	POLR2A	chr4:16227458-16229614	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr4:16227326-16229601	K562	blood:	n/a	n/a
9	POLR2A	chr4:16228529-16229938	GM12892	blood:	n/a	n/a
10	POLR2A	chr4:16227284-16229859	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:16229111-16229776	U87	brain:	n/a	n/a
12	POLR2A	chr4:16226421-16229959	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr4:16227346-16229569	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr4:16227393-16229566	GM18951	blood:	n/a	n/a
15	POLR2A	chr4:16228703-16229569	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:16227440-16229557	GM12892	blood:	n/a	n/a
17	RCOR1	chr4:16229364-16229608	K562	blood:	n/a	n/a
18	POLR2A	chr4:16227550-16229606	K562	blood:	n/a	n/a
19	POLR2A	chr4:16227508-16229601	K562	blood:	n/a	n/a
20	POLR2A	chr4:16227484-16229641	K562	blood:	n/a	n/a
21	POLR2A	chr4:16227369-16229616	HL-60	blood:	n/a	n/a
22	POLR2A	chr4:16227422-16229579	GM19099	blood:	n/a	n/a
23	POLR2A	chr4:16227699-16229603	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:16227700-16229624	IMR90	lung:	n/a	n/a
25	HEY1	chr4:16228191-16229563	K562	blood:	n/a	n/a
26	POLR2A	chr4:16227391-16229882	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:16228770-16229623	HepG2	liver:	n/a	n/a
28	POLR2A	chr4:16227420-16229577	K562	blood:	n/a	n/a
29	RUNX3	chr4:16228573-16229738	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:16226639-16229966	PBDE	blood:	n/a	n/a
31	POLR2A	chr4:16228474-16229881	U87	brain:	n/a	n/a
32	MAX	chr4:16229163-16229563	K562	blood:	n/a	n/a
33	POLR2A	chr4:16227379-16229753	HepG2	liver:	n/a	n/a
34	UBTF	chr4:16227439-16230550	K562	blood:	n/a	n/a
35	POLR2A	chr4:16227386-16229694	K562	blood:	n/a	n/a
36	POLR2A	chr4:16229111-16229761	U87	brain:	n/a	n/a
37	POLR2A	chr4:16227383-16229669	GM12878	blood:	n/a	n/a
38	MAX	chr4:16229160-16229587	NB4	blood:	n/a	n/a
39	POLR2A	chr4:16227449-16229608	K562	blood:	n/a	n/a
40	POLR2A	chr4:16227400-16229614	GM19193	blood:	n/a	n/a
41	EP300	chr4:16229335-16229600	K562	blood:	n/a	chr4:16229411-16229427
42	POLR2A	chr4:16226783-16230420	Raji	blood:	n/a	n/a
43	POLR2A	chr4:16227470-16229634	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:16227320-16229648	GM18505	blood:	n/a	n/a
45	HCFC1	chr4:16229389-16229589	K562	blood:	n/a	n/a
46	POLR2A	chr4:16227443-16229568	GM15510	blood:	n/a	n/a
47	MTA3	chr4:16228581-16229653	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:16212529..16219737-chr4:16225844..16229602,8	MCF-7	breast:
2	chr4:16216932..16218804-chr4:16227245..16229857,2	MCF-7	breast:
3	chr4:16227890..16229761-chr4:17577650..17579806,2	MCF-7	breast:
4	chr4:15002785..15006911-chr4:16226901..16230678,5	K562	blood:
5	chr4:15681714..15684664-chr4:16226494..16229781,3	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
ENSG00000247624	Chromatin interaction
ENSG00000169762	Chromatin interaction
ENSG00000118564	Chromatin interaction
ENSG00000002549	Chromatin interaction
ENSG00000137449	Chromatin interaction
ENSG00000237765	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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	esv3405372	chr4:16226679-16229727	Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3489117	chr4:16226904-16229802	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3489118	chr4:16226904-16229802	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16225600-16230800	Active TSS	A549	lung
2	chr4:16225800-16230000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16226200-16229600	Active TSS	Right Atrium	heart
4	chr4:16226400-16229600	Active TSS	Left Ventricle	heart
5	chr4:16226400-16229600	Active TSS	Psoas Muscle	Psoas
6	chr4:16226400-16229800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:16226400-16229800	Active TSS	Right Ventricle	heart
8	chr4:16226400-16229800	Active TSS	Stomach Smooth Muscle	stomach
9	chr4:16226400-16230600	Active TSS	GM12878-XiMat	blood
10	chr4:16226600-16229600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:16226600-16229600	Active TSS	HMEC	breast
12	chr4:16226600-16229800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr4:16226600-16229800	Active TSS	NHDF-Ad	bronchial
14	chr4:16226600-16230000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:16226600-16230800	Active TSS	K562	blood
16	chr4:16226800-16229600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr4:16226800-16229600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:16226800-16229600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:16226800-16229600	Active TSS	Ovary	ovary
20	chr4:16226800-16229800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr4:16226800-16230000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:16226800-16230600	Active TSS	Brain Anterior Caudate	brain
23	chr4:16227000-16229600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:16227000-16229600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:16227000-16229600	Active TSS	Brain Hippocampus Middle	brain
26	chr4:16227000-16229600	Active TSS	Brain Substantia Nigra	brain
27	chr4:16227000-16229600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:16227000-16230000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr4:16227000-16230000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:16227000-16230600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:16227000-16230600	Active TSS	Brain Cingulate Gyrus	brain
32	chr4:16227000-16230800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:16227200-16229600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:16227200-16229600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr4:16227200-16229600	Active TSS	Esophagus	oesophagus
36	chr4:16227200-16229600	Active TSS	Pancreas	Pancrea
37	chr4:16227200-16230600	Active TSS	Colonic Mucosa	Colon
38	chr4:16227400-16229600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr4:16227400-16229600	Active TSS	Brain Germinal Matrix	brain
40	chr4:16228600-16229600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:16228600-16229800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr4:16228600-16230600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr4:16228800-16229600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr4:16228800-16229600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:16228800-16229600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:16228800-16229600	Flanking Active TSS	Fetal Lung	lung
47	chr4:16228800-16229600	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr4:16228800-16229600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr4:16228800-16229600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:16228800-16229600	Flanking Active TSS	Dnd41	blood

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