Variant report

Variant	rs567959621
Chromosome Location	chr4:95678708-95678709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

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	MAX	chr4:95678600-95680454	A549	lung:	n/a	chr4:95679555-95679566 chr4:95679555-95679566 chr4:95679555-95679565 chr4:95679554-95679567
3	POLR2A	chr4:95678612-95679216	PFSK-1	brain:	n/a	n/a
4	MXI1	chr4:95678575-95680180	IMR90	lung:	n/a	chr4:95679721-95679730
5	CTCF	chr4:95678640-95678790	HAc	cerebellar:	n/a	n/a
6	POLR2A	chr4:95678469-95679094	PFSK-1	brain:	n/a	n/a
7	CTCF	chr4:95678680-95678830	HVMF	connective:	n/a	n/a
8	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
9	POLR2A	chr4:95678205-95680130	MCF10A-Er-Src	breast:	n/a	n/a
10	RAD21	chr4:95677342-95679343	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr4:95678600-95678750	BJ	skin:	n/a	n/a
12	POLR2A	chr4:95678565-95679131	H1-neurons	neurons:	n/a	n/a
13	TCF12	chr4:95678623-95679171	ECC-1	luminal epithelium:	n/a	n/a
14	CHD1	chr4:95677993-95680028	IMR90	lung:	n/a	chr4:95679126-95679136 chr4:95679131-95679141
15	POLR2A	chr4:95678431-95679074	H1-neurons	neurons:	n/a	n/a
16	TAF1	chr4:95678598-95679185	A549	lung:	n/a	n/a
17	TCF12	chr4:95678529-95679134	A549	lung:	n/a	n/a
18	POLR2A	chr4:95678486-95680216	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr4:95678665-95679003	A549	lung:	n/a	n/a
20	REST	chr4:95678696-95679043	PFSK-1	brain:	n/a	chr4:95678846-95678856
21	TEAD4	chr4:95678706-95679110	ECC-1	luminal epithelium:	n/a	n/a
22	REST	chr4:95678572-95679081	A549	lung:	n/a	chr4:95678846-95678856
23	TBP	chr4:95678682-95679035	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F4	chr4:95678657-95679124	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:95678703-95678753	RPTEC	kidney:	n/a
2	chr4:95678703-95678753	Jurkat	blood:	n/a
3	chr4:95678703-95678753	HEK293	kidney:	embryo
4	chr4:95678703-95678753	NT2-D1	testis:	n/a
5	chr4:95678703-95678753	HCT-116	colon:	n/a
6	chr4:95678703-95678753	HMEC	breast:	n/a
7	chr4:95678703-95678753	HEEpiC	esophagus:	n/a
8	chr4:95678703-95678753	HL-60	blood:	n/a
9	chr4:95678703-95678753	HRPEpiC	eye:	n/a
10	chr4:95678703-95678753	AoSMC	blood vessel:	n/a
11	chr4:95678703-95678753	IMR90	lung:	fetal
12	chr4:95678703-95678753	HAEpiC	amniotic membrane:	n/a
13	chr4:95678703-95678753	HRE	kidney:	n/a
14	chr4:95678703-95678753	HCF	heart:	n/a
15	chr4:95678703-95678753	HIPEpiC	eye:	n/a
16	chr4:95678703-95678753	PrEC	prostate:	n/a
17	chr4:95678703-95678753	CMK	blood:	n/a
18	chr4:95678703-95678753	SK-N-SH	brain:	n/a
19	chr4:95678703-95678753	HRCEpiC	kidney:	n/a
20	chr4:95678703-95678753	ECC-1	luminal epithelium:	n/a
21	chr4:95678703-95678753	SKMC	muscle:	n/a
22	chr4:95678703-95678753	GM12891	blood:	n/a
23	chr4:95678703-95678753	GM06990	blood:	n/a
24	chr4:95678703-95678753	LNCaP	prostate:	n/a
25	chr4:95678703-95678753	K562	blood:	n/a
26	chr4:95678703-95678753	A549	lung:	n/a
27	chr4:95678703-95678753	AG04449	skin:	fetal
28	chr4:95678703-95678753	Caco-2	colon:	n/a
29	chr4:95678703-95678753	HCPEpiC	choroid plexus:	n/a
30	chr4:95678703-95678753	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:95678703-95678753	U87	brain:	n/a
32	chr4:95678703-95678753	NH-A	brain:	n/a
33	chr4:95678703-95678753	BE2_C	brain:	n/a
34	chr4:95678703-95678753	ProgFib	skin:	n/a
35	chr4:95678703-95678753	GM19239	blood:	n/a
36	chr4:95678703-95678753	NHBE	bronchial:	n/a
37	chr4:95678703-95678753	GM12878	blood:	n/a
38	chr4:95678703-95678753	PANC-1	pancreas:	n/a
39	chr4:95678703-95678753	HepG2	liver:	n/a
40	chr4:95678703-95678753	H1-hESC	embryonic stem cell:	embryo
41	chr4:95678703-95678753	SAEC	small airway:	n/a
42	chr4:95678703-95678753	GM12892	blood:	n/a
43	chr4:95678703-95678753	AG04450	lung:	fetal
44	chr4:95678703-95678753	NB4	blood:	n/a
45	chr4:95678703-95678753	HUVEC	blood vessel:	n/a
46	chr4:95678703-95678753	AG09309	skin:	n/a
47	chr4:95678703-95678753	NHDF-neo	bronchial:	n/a
48	chr4:95678703-95678753	BJ	skin:	n/a
49	chr4:95678703-95678753	AG09319	gingival:	n/a
50	chr4:95678703-95678753	Hepatocyte	liver:	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
BMPR1B	TF binding region
ENSG00000249599	TF binding region
BMPR1B	CpG island
ENSG00000249599	CpG island
ENSG00000187837	Chromatin interaction
ENSG00000138696	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95677800-95681800	Active TSS	A549	lung
2	chr4:95678000-95678800	Flanking Active TSS	HUVEC	blood vessel
3	chr4:95678000-95679000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:95678000-95680000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:95678000-95680200	Active TSS	NH-A	brain
6	chr4:95678000-95682000	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:95678200-95678800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr4:95678200-95678800	Bivalent Enhancer	Fetal Brain Male	brain
9	chr4:95678200-95679000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:95678200-95679000	Flanking Bivalent TSS/Enh	Dnd41	blood
11	chr4:95678200-95679600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr4:95678200-95680000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:95678200-95680400	Active TSS	Aorta	Aorta
14	chr4:95678200-95680400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr4:95678200-95680400	Active TSS	HMEC	breast
16	chr4:95678400-95678800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr4:95678400-95678800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:95678400-95679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:95678400-95679400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:95678400-95679600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:95678400-95679600	Active TSS	Fetal Brain Female	brain
23	chr4:95678400-95679800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:95678400-95679800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:95678400-95680000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:95678400-95680000	Bivalent/Poised TSS	Thymus	Thymus
27	chr4:95678400-95680200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:95678400-95680200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:95678400-95680400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr4:95678400-95680600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr4:95678400-95680600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:95678400-95680600	Active TSS	Ovary	ovary
33	chr4:95678400-95680800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:95678400-95680800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:95678600-95678800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr4:95678600-95678800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr4:95678600-95678800	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr4:95678600-95678800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Liver	Liver
42	chr4:95678600-95678800	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr4:95678600-95678800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:95678600-95678800	Bivalent/Poised TSS	Colonic Mucosa	Colon
45	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr4:95678600-95678800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr4:95678600-95678800	Bivalent Enhancer	Placenta	Placenta
50	chr4:95678600-95678800	Active TSS	Gastric	stomach

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