Variant report

Variant	rs552845907
Chromosome Location	chr4:95678844-95678845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:95677488-95681982	SK-N-SH	brain:	n/a	chr4:95679721-95679730
2	POLR2A	chr4:95678765-95678985	MCF-7	breast:	n/a	n/a
3	MAX	chr4:95678600-95680454	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
4	POLR2A	chr4:95678612-95679216	PFSK-1	brain:	n/a	n/a
5	RAD21	chr4:95678727-95679089	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr4:95678575-95680180	IMR90	lung:	n/a	chr4:95679721-95679730
7	CTCF	chr4:95678820-95678970	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr4:95678840-95678990	NHEK	skin:	n/a	n/a
9	POLR2A	chr4:95678469-95679094	PFSK-1	brain:	n/a	n/a
10	HA-E2F1	chr4:95678701-95680381	MCF-7	breast:	n/a	chr4:95679542-95679552 chr4:95679544-95679553 chr4:95680197-95680204 chr4:95679618-95679630 chr4:95679539-95679549
11	POLR2A	chr4:95678205-95680130	MCF10A-Er-Src	breast:	n/a	n/a
12	RAD21	chr4:95678727-95679112	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFIC	chr4:95678759-95679118	ECC-1	luminal epithelium:	n/a	n/a
14	RAD21	chr4:95677342-95679343	SK-N-SH	brain:	n/a	n/a
15	EP300	chr4:95678767-95679081	SK-N-SH_RA	brain:	n/a	chr4:95678846-95678862
16	POLR2A	chr4:95678565-95679131	H1-neurons	neurons:	n/a	n/a
17	FOS	chr4:95678733-95678990	HUVEC	blood vessel:	n/a	n/a
18	YY1	chr4:95678765-95679036	A549	lung:	n/a	chr4:95678870-95678884 chr4:95678890-95678899
19	CTBP2	chr4:95678812-95680327	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr4:95678623-95679171	ECC-1	luminal epithelium:	n/a	n/a
21	CREB1	chr4:95678728-95679047	A549	lung:	n/a	n/a
22	TAF1	chr4:95678751-95678991	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr4:95678820-95678970	BJ	skin:	n/a	n/a
24	RAD21	chr4:95678717-95679484	IMR90	lung:	n/a	n/a
25	POLR2A	chr4:95678719-95680358	A549	lung:	n/a	n/a
26	CTCF	chr4:95678820-95678970	AG09319	gingival:	n/a	n/a
27	CHD2	chr4:95678813-95679126	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:95678828-95679924	HEK293	kidney:	n/a	n/a
29	CTCF	chr4:95678840-95678990	HVMF	connective:	n/a	n/a
30	TAF1	chr4:95678798-95679739	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr4:95678728-95679877	ECC-1	luminal epithelium:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
32	CHD1	chr4:95677993-95680028	IMR90	lung:	n/a	chr4:95679126-95679136 chr4:95679131-95679141
33	TAF1	chr4:95678712-95679106	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr4:95678754-95678952	A549	lung:	n/a	n/a
35	POLR2A	chr4:95678747-95678961	A549	lung:	n/a	n/a
36	RAD21	chr4:95678755-95679116	SK-N-SH_RA	brain:	n/a	n/a
37	POLR2A	chr4:95678431-95679074	H1-neurons	neurons:	n/a	n/a
38	HDAC2	chr4:95678784-95679082	H1-hESC	embryonic stem cell:	n/a	chr4:95678991-95679005 chr4:95678992-95679006
39	CTCF	chr4:95678841-95678974	MCF-7	breast:	n/a	n/a
40	TAF1	chr4:95678598-95679185	A549	lung:	n/a	n/a
41	CTCF	chr4:95678814-95679007	Fibrobl	skin:	n/a	n/a
42	POLR2A	chr4:95678831-95679108	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr4:95678726-95678989	A549	lung:	n/a	n/a
44	TCF12	chr4:95678529-95679134	A549	lung:	n/a	n/a
45	POLR2A	chr4:95678486-95680216	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:95678665-95679003	A549	lung:	n/a	n/a
47	POLR2A	chr4:95678722-95678984	A549	lung:	n/a	n/a
48	CTCF	chr4:95678840-95678990	MCF-7	breast:	n/a	n/a
49	RAD21	chr4:95678799-95679078	SK-N-SH_RA	brain:	n/a	n/a
50	REST	chr4:95678696-95679043	PFSK-1	brain:	n/a	chr4:95678846-95678856

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:95678817-95678867	K562	blood:	n/a
2	chr4:95678817-95678867	Hela-S3	cervix:	n/a
3	chr4:95678817-95678867	GM12892	blood:	n/a
4	chr4:95678817-95678867	HUVEC	blood vessel:	n/a
5	chr4:95678817-95678867	BE2_C	brain:	n/a
6	chr4:95678817-95678867	GM12878	blood:	n/a
7	chr4:95678817-95678867	U87	brain:	n/a
8	chr4:95678817-95678867	PFSK-1	brain:	n/a
9	chr4:95678817-95678867	HAEpiC	amniotic membrane:	n/a
10	chr4:95678817-95678867	NH-A	brain:	n/a
11	chr4:95678817-95678867	H1-hESC	embryonic stem cell:	embryo
12	chr4:95678817-95678867	NB4	blood:	n/a
13	chr4:95678817-95678867	AG09309	skin:	n/a
14	chr4:95678817-95678867	ovcar-3	ovarian:	n/a
15	chr4:95678817-95678867	HCPEpiC	choroid plexus:	n/a
16	chr4:95678817-95678867	NHDF-neo	bronchial:	n/a
17	chr4:95678817-95678867	Jurkat	blood:	n/a
18	chr4:95678817-95678867	HCM	heart:	n/a
19	chr4:95678817-95678867	NT2-D1	testis:	n/a
20	chr4:95678817-95678867	SK-N-SH	brain:	n/a
21	chr4:95678817-95678867	A549	lung:	n/a
22	chr4:95678817-95678867	HEEpiC	esophagus:	n/a
23	chr4:95678817-95678867	CMK	blood:	n/a
24	chr4:95678817-95678867	PrEC	prostate:	n/a
25	chr4:95678817-95678867	LNCaP	prostate:	n/a
26	chr4:95678817-95678867	SK-N-SH_RA	brain:	n/a
27	chr4:95678817-95678867	AG09319	gingival:	n/a
28	chr4:95678817-95678867	SAEC	small airway:	n/a
29	chr4:95678817-95678867	HRE	kidney:	n/a
30	chr4:95678817-95678867	HCT-116	colon:	n/a
31	chr4:95678817-95678867	NHBE	bronchial:	n/a
32	chr4:95678817-95678867	T-47D	breast:	n/a
33	chr4:95678817-95678867	AoSMC	blood vessel:	n/a
34	chr4:95678817-95678867	AG04449	skin:	fetal
35	chr4:95678817-95678867	MCF10A-Er-Src	breast:	n/a
36	chr4:95678817-95678867	AG04450	lung:	fetal
37	chr4:95678817-95678867	HRPEpiC	eye:	n/a
38	chr4:95678817-95678867	ECC-1	luminal epithelium:	n/a
39	chr4:95678817-95678867	HepG2	liver:	n/a
40	chr4:95678817-95678867	HCF	heart:	n/a
41	chr4:95678817-95678867	BJ	skin:	n/a
42	chr4:95678817-95678867	HL-60	blood:	n/a
43	chr4:95678817-95678867	GM12891	blood:	n/a
44	chr4:95678817-95678867	SKMC	muscle:	n/a
45	chr4:95678817-95678867	AG10803	skin:	n/a
46	chr4:95678817-95678867	Caco-2	colon:	n/a
47	chr4:95678817-95678867	RPTEC	kidney:	n/a
48	chr4:95678817-95678867	GM06990	blood:	n/a
49	chr4:95678817-95678867	IMR90	lung:	fetal
50	chr4:95678817-95678867	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95675993..95678993-chr6:26054520..26056880,3	K562	blood:
2	chr4:95678678..95680883-chr4:96023985..96026151,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5C-1	chr4:95678545-95679011	XLOC_004019
2	lnc-UNC5C-1	chr4:95678545-95679036	NONHSAT097457

No data

Variant related genes	Relation type
ENSG00000249599	TF binding region
BMPR1B	TF binding region
BMPR1B	CpG island
ENSG00000249599	CpG island
ENSG00000138696	Chromatin interaction
ENSG00000187837	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1833916	chr4:95673181-95679741	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3407255	chr4:95677954-95680802	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95677800-95681800	Active TSS	A549	lung
2	chr4:95678000-95679000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr4:95678000-95680000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:95678000-95680200	Active TSS	NH-A	brain
5	chr4:95678000-95682000	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:95678200-95679000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:95678200-95679000	Flanking Bivalent TSS/Enh	Dnd41	blood
8	chr4:95678200-95679600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr4:95678200-95680000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:95678200-95680400	Active TSS	Aorta	Aorta
11	chr4:95678200-95680400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr4:95678200-95680400	Active TSS	HMEC	breast
13	chr4:95678400-95679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:95678400-95679400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:95678400-95679600	Active TSS	Fetal Brain Female	brain
18	chr4:95678400-95679800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:95678400-95679800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:95678400-95680000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:95678400-95680000	Bivalent/Poised TSS	Thymus	Thymus
22	chr4:95678400-95680200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:95678400-95680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:95678400-95680400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:95678400-95680600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr4:95678400-95680600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr4:95678400-95680600	Active TSS	Ovary	ovary
28	chr4:95678400-95680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:95678400-95680800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr4:95678600-95679000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr4:95678600-95679000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:95678600-95679000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr4:95678600-95679000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:95678600-95679000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr4:95678600-95679000	Bivalent Enhancer	Fetal Heart	heart
42	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
43	chr4:95678600-95679000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr4:95678600-95679000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
46	chr4:95678600-95679000	Flanking Active TSS	HSMM	muscle
47	chr4:95678600-95679000	Bivalent/Poised TSS	NHDF-Ad	bronchial
48	chr4:95678600-95679000	Flanking Active TSS	NHEK	skin
49	chr4:95678600-95679000	Flanking Bivalent TSS/Enh	Osteobl	bone
50	chr4:95678600-95679200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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