Variant report

Variant	rs554822906
Chromosome Location	chr18:9615308-9615309
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	ELK1	chr18:9615211-9615414	GM12878	blood:	n/a	n/a
2	POLR2A	chr18:9614663-9615333	GM12892	blood:	n/a	n/a
3	CBX3	chr18:9615013-9615553	K562	blood:	n/a	n/a
4	MAX	chr18:9614778-9615433	K562	blood:	n/a	n/a
5	MAX	chr18:9614700-9615634	HCT-116	colon:	n/a	chr18:9615546-9615554
6	NR2F2	chr18:9614730-9615347	MCF-7	breast:	n/a	n/a
7	POLR2A	chr18:9613851-9615329	GM18526	blood:	n/a	n/a
8	SMC3	chr18:9615124-9615448	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr18:9614656-9615748	PFSK-1	brain:	n/a	n/a
10	REST	chr18:9614917-9615698	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr18:9614927-9616339	U87	brain:	n/a	n/a
12	SMARCB1	chr18:9613668-9615396	Hela-S3	cervix:	n/a	n/a
13	YY1	chr18:9614696-9615311	SK-N-SH_RA	brain:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
14	JUND	chr18:9615091-9615337	K562	blood:	n/a	chr18:9615220-9615234
15	E2F6	chr18:9614441-9615424	K562	blood:	n/a	chr18:9614442-9614452 chr18:9614739-9614750 chr18:9614834-9614843 chr18:9614846-9614856
16	POLR2A	chr18:9613682-9615417	ProgFib	skin:	n/a	n/a
17	POLR2A	chr18:9613810-9615336	GM18951	blood:	n/a	n/a
18	TAF1	chr18:9614895-9615467	H1-neurons	neurons:	n/a	n/a
19	TBP	chr18:9613926-9615389	H1-hESC	embryonic stem cell:	n/a	n/a
20	RCOR1	chr18:9615012-9615352	Hela-S3	cervix:	n/a	n/a
21	YY1	chr18:9614679-9615406	HepG2	liver:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
22	MAX	chr18:9614618-9615586	A549	lung:	n/a	chr18:9615546-9615554
23	POLR2A	chr18:9613461-9615883	HUVEC	blood vessel:	n/a	n/a
24	E2F6	chr18:9614859-9615441	A549	lung:	n/a	n/a
25	MAZ	chr18:9613545-9615746	K562	blood:	n/a	chr18:9614492-9614502 chr18:9615546-9615554
26	CHD2	chr18:9615158-9615326	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr18:9615200-9615350	AG10803	skin:	n/a	chr18:9615277-9615286 chr18:9615277-9615290
28	POLR2A	chr18:9613835-9615686	K562	blood:	n/a	n/a
29	POLR2A	chr18:9613980-9615432	H1-neurons	neurons:	n/a	n/a
30	YY1	chr18:9614787-9615364	ECC-1	luminal epithelium:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
31	POLR2A	chr18:9614351-9615415	Hela-S3	cervix:	n/a	n/a
32	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
33	SIN3AK20	chr18:9614922-9615373	SK-N-SH	brain:	n/a	n/a
34	EBF1	chr18:9615090-9615354	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:9613738-9615413	GM19099	blood:	n/a	n/a
36	POLR2A	chr18:9614676-9615543	HUVEC	blood vessel:	n/a	n/a
37	GTF2F1	chr18:9615127-9615408	Hela-S3	cervix:	n/a	n/a
38	HEY1	chr18:9614679-9615848	K562	blood:	n/a	n/a
39	POLR2A	chr18:9614661-9615450	GM12892	blood:	n/a	n/a
40	MAZ	chr18:9613689-9615350	Hela-S3	cervix:	n/a	chr18:9614492-9614502
41	MXI1	chr18:9615029-9615333	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr18:9613542-9615772	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr18:9614799-9615317	ECC-1	luminal epithelium:	n/a	chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
44	TAF7	chr18:9614714-9615414	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr18:9614747-9615363	H1-hESC	embryonic stem cell:	n/a	chr18:9615220-9615234
46	MAX	chr18:9614713-9615534	A549	lung:	n/a	n/a
47	POLR2A	chr18:9614352-9615490	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr18:9615149-9615339	K562	blood:	n/a	n/a
49	MXI1	chr18:9613361-9615682	IMR90	lung:	n/a	n/a
50	POLR2A	chr18:9614360-9615314	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
3	chr18:9614922..9615897-chrX:48815132..48816087,2	Hela-S3	cervix:
4	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
5	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
6	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
7	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
8	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
9	chr18:9615287..9617165-chr18:9631128..9633561,2	K562	blood:
10	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
11	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
12	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
13	chr17:57970172..57971882-chr18:9614484..9616129,2	MCF-7	breast:
14	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
15	chr18:9584254..9588034-chr18:9613364..9615601,3	MCF-7	breast:
16	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
17	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
18	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
19	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9615262-9615333	ENSG00000263627.1
2	lnc-RALBP1-2	chr18:9615186-9616194	NONHSAT057231
3	lnc-RALBP1-2	chr18:9614694-9615333	NONHSAT057230

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000212572	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000068308	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000266541	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000265564	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000264644	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3375382	chr18:9612977-9615525	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
5	esv3497207	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
6	esv3497209	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
7	esv3389407	chr18:9613377-9615925	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
8	esv3356263	chr18:9614152-9615550	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	esv1820504	chr18:9614250-9621841	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1801741	chr18:9614451-9621841	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9612400-9615400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:9612600-9615400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr18:9612600-9615400	Active TSS	Ovary	ovary
5	chr18:9612600-9615600	Active TSS	Right Ventricle	heart
6	chr18:9612600-9615800	Active TSS	Aorta	Aorta
7	chr18:9612800-9615400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr18:9612800-9615400	Active TSS	A549	lung
9	chr18:9612800-9615600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr18:9613000-9615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr18:9613000-9615600	Active TSS	Fetal Brain Female	brain
12	chr18:9613200-9615400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:9613200-9615400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:9613200-9615400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:9613200-9615400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr18:9613200-9615400	Active TSS	Colon Smooth Muscle	Colon
17	chr18:9613200-9615400	Active TSS	Fetal Intestine Large	intestine
18	chr18:9613200-9615600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr18:9613400-9615400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:9613400-9615400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:9613400-9615400	Active TSS	Brain Anterior Caudate	brain
22	chr18:9613400-9615400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr18:9613400-9615600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr18:9613400-9615600	Active TSS	Esophagus	oesophagus
25	chr18:9613400-9615600	Active TSS	Left Ventricle	heart
26	chr18:9613600-9615400	Active TSS	Gastric	stomach
27	chr18:9613600-9615400	Active TSS	Lung	lung
28	chr18:9613600-9615400	Active TSS	Small Intestine	intestine
29	chr18:9613600-9615600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:9613600-9615800	Active TSS	Fetal Kidney	kidney
31	chr18:9613800-9615400	Transcr. at gene 5' and 3'	Right Atrium	heart
32	chr18:9613800-9615800	Active TSS	Primary T cells from cord blood	blood
33	chr18:9614000-9615400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:9614800-9615800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:9615000-9615400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr18:9615000-9615400	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr18:9615000-9615400	Flanking Active TSS	Thymus	Thymus
38	chr18:9615000-9615600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr18:9615000-9615600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:9615000-9615600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:9615000-9615800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr18:9615000-9615800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr18:9615000-9615800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr18:9615000-9615800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr18:9615000-9615800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr18:9615000-9616000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr18:9615000-9616000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr18:9615000-9616200	Flanking Active TSS	K562	blood
49	chr18:9615200-9615400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:9615200-9615400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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