Variant report

Variant	rs150495077
Chromosome Location	chr4:571064-571065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr4:570836-571681	H1-hESC	embryonic stem cell:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
2	MAX	chr4:570795-571716	NB4	blood:	n/a	chr4:571238-571247
3	POLR2A	chr4:570772-571687	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr4:569033-571774	H1-neurons	neurons:	n/a	n/a
5	KAP1	chr4:570961-571637	U2OS	brain:	n/a	chr4:571445-571454
6	SIN3A	chr4:570800-571652	H1-hESC	embryonic stem cell:	n/a	chr4:570814-570827 chr4:571317-571330
7	MYC	chr4:570823-571673	NB4	blood:	n/a	chr4:571238-571247
8	TAF1	chr4:570746-571792	H1-neurons	neurons:	n/a	n/a
9	ZNF263	chr4:570936-571676	HEK293-T-REx	kidney:	n/a	n/a
10	CTBP2	chr4:570834-571856	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr4:570895-571124	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr4:568983-572510	H1-neurons	neurons:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:570373-570386 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:570404-570417 chr4:571320-571333 chr4:570810-570820 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:571381-571394 chr4:569243-569263 chr4:570817-570830 chr4:569248-569257 chr4:569249-569263 chr4:571378-571391 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
13	POLR2A	chr4:570768-572264	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr4:570754-571686	PFSK-1	brain:	n/a	n/a
15	BACH1	chr4:570852-571471	H1-hESC	embryonic stem cell:	n/a	chr4:571444-571458

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:571042-571092	MCF10A-Er-Src	breast:	n/a
2	chr4:571042-571092	A549	lung:	n/a
3	chr4:571042-571092	AG10803	skin:	n/a
4	chr4:571042-571092	SK-N-SH_RA	brain:	n/a
5	chr4:571042-571092	HNPCEpiC	eye:	n/a
6	chr4:571042-571092	HIPEpiC	eye:	n/a
7	chr4:571042-571092	HMEC	breast:	n/a
8	chr4:571042-571092	GM12892	blood:	n/a
9	chr4:571042-571092	SAEC	small airway:	n/a
10	chr4:571042-571092	AoSMC	blood vessel:	n/a
11	chr4:571042-571092	GM12878	blood:	n/a
12	chr4:571042-571092	Hela-S3	cervix:	n/a
13	chr4:571042-571092	SK-N-SH	brain:	n/a
14	chr4:571042-571092	GM19239	blood:	n/a
15	chr4:571042-571092	ProgFib	skin:	n/a
16	chr4:571042-571092	GM06990	blood:	n/a
17	chr4:571042-571092	HEK293	kidney:	embryo
18	chr4:571042-571092	IMR90	lung:	fetal
19	chr4:571042-571092	BE2_C	brain:	n/a
20	chr4:571042-571092	ovcar-3	ovarian:	n/a
21	chr4:571042-571092	HRCEpiC	kidney:	n/a
22	chr4:571042-571092	BJ	skin:	n/a
23	chr4:571042-571092	Jurkat	blood:	n/a
24	chr4:571042-571092	HL-60	blood:	n/a
25	chr4:571042-571092	HCM	heart:	n/a
26	chr4:571042-571092	GM12891	blood:	n/a
27	chr4:571042-571092	HRE	kidney:	n/a
28	chr4:571042-571092	NT2-D1	testis:	n/a
29	chr4:571042-571092	AG04450	lung:	fetal
30	chr4:571042-571092	HRPEpiC	eye:	n/a
31	chr4:571042-571092	HAEpiC	amniotic membrane:	n/a
32	chr4:571042-571092	NH-A	brain:	n/a
33	chr4:571042-571092	Hepatocyte	liver:	n/a
34	chr4:571042-571092	K562	blood:	n/a
35	chr4:571042-571092	HPAEpiC	pulmonary alveolar:	n/a
36	chr4:571042-571092	HUVEC	blood vessel:	n/a
37	chr4:571042-571092	HCT-116	colon:	n/a
38	chr4:571042-571092	T-47D	breast:	n/a
39	chr4:571042-571092	RPTEC	kidney:	n/a
40	chr4:571042-571092	AG04449	skin:	fetal
41	chr4:571042-571092	SK-N-MC	brain:	n/a
42	chr4:571042-571092	U87	brain:	n/a
43	chr4:571042-571092	PANC-1	pancreas:	n/a
44	chr4:571042-571092	Caco-2	colon:	n/a
45	chr4:571042-571092	AG09309	skin:	n/a
46	chr4:571042-571092	NHDF-neo	bronchial:	n/a
47	chr4:571042-571092	HepG2	liver:	n/a
48	chr4:571042-571092	HCPEpiC	choroid plexus:	n/a
49	chr4:571042-571092	AG09319	gingival:	n/a
50	chr4:571042-571092	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:570799..573548-chr4:580234..582794,2	MCF-7	breast:
2	chr4:564165..566404-chr4:569838..571549,2	K562	blood:
3	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:
4	chr2:37457647..37458147-chr4:570703..571253,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
2	lnc-PDE6B-1	chr4:570919-571223	XLOC_003411
3	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
4	lnc-PDE6B-1	chr4:570957-572108	ENSG00000256961
5	lnc-PDE6B-1	chr4:570761-571223	NONHSAT094572
6	lnc-PDE6B-1	chr4:570826-571223	NONHSAT094574

Variant related genes	Relation type
ENSG00000273238	TF binding region
ENSG00000273238	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription 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	108 gene(s)	inside rSNPs	diseases
11	esv3436442	chr4:568052-571400	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3358052	chr4:568427-571250	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	esv1815184	chr4:568928-575087	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	esv1816544	chr4:568928-575087	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	esv3371433	chr4:568977-571525	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	1 gene(s)	inside rSNPs	n/a
16	esv3339025	chr4:569577-572125	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
2	chr4:568400-571600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr4:568600-571200	Enhancers	Pancreas	Pancrea
4	chr4:568600-571400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:568600-571800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:568600-571800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:568800-571200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:568800-571600	Active TSS	Brain Cingulate Gyrus	brain
9	chr4:568800-572000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr4:569600-571400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr4:569800-571200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:569800-571200	Active TSS	Primary hematopoietic stem cells	blood
13	chr4:569800-571200	Weak transcription	Gastric	stomach
14	chr4:569800-571400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:570200-571200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:570200-571200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:570200-571200	Active TSS	Brain Substantia Nigra	brain
18	chr4:570200-571200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr4:570200-571200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr4:570200-571400	Enhancers	Primary B cells from cord blood	blood
21	chr4:570200-571600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr4:570200-571800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:570200-571800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr4:570200-571800	Bivalent Enhancer	Spleen	Spleen
25	chr4:570200-572200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr4:570200-572800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:570200-573200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:570400-571200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:570400-571200	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr4:570400-571400	Bivalent Enhancer	Ovary	ovary
31	chr4:570400-571600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:570400-571600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr4:570400-571800	Bivalent Enhancer	Esophagus	oesophagus
34	chr4:570400-571800	Bivalent Enhancer	Placenta	Placenta
35	chr4:570400-572200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:570600-571200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr4:570600-571400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:570600-571600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:570600-571600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:570600-572000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr4:570800-571200	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr4:570800-571200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr4:570800-571200	Bivalent/Poised TSS	Thymus	Thymus
44	chr4:570800-571200	Flanking Active TSS	HepG2	liver
45	chr4:570800-571400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:570800-571400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr4:570800-571600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:570800-571600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:570800-571600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:570800-571600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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