Variant report

Variant	rs577408018
Chromosome Location	chr18:9615596-9615597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr18:9614700-9615634	HCT-116	colon:	n/a	chr18:9615546-9615554
2	POLR2A	chr18:9614656-9615748	PFSK-1	brain:	n/a	n/a
3	REST	chr18:9614917-9615698	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr18:9614927-9616339	U87	brain:	n/a	n/a
5	POLR2A	chr18:9613461-9615883	HUVEC	blood vessel:	n/a	n/a
6	MAZ	chr18:9613545-9615746	K562	blood:	n/a	chr18:9614492-9614502 chr18:9615546-9615554
7	POLR2A	chr18:9615553-9615616	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr18:9613835-9615686	K562	blood:	n/a	n/a
9	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
10	HEY1	chr18:9614679-9615848	K562	blood:	n/a	n/a
11	POLR2A	chr18:9613542-9615772	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr18:9613361-9615682	IMR90	lung:	n/a	n/a
13	TEAD4	chr18:9615015-9615773	K562	blood:	n/a	n/a
14	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr18:9614456-9615616	K562	blood:	n/a	n/a
16	POLR2A	chr18:9615575-9615617	K562	blood:	n/a	n/a
17	HCFC1	chr18:9615466-9615666	K562	blood:	n/a	n/a
18	POLR2A	chr18:9613766-9615629	HepG2	liver:	n/a	n/a
19	POLR2A	chr18:9614332-9615735	K562	blood:	n/a	n/a
20	POLR2A	chr18:9613069-9615751	Hela-S3	cervix:	n/a	n/a
21	YY1	chr18:9615511-9615768	A549	lung:	n/a	chr18:9615653-9615669
22	POLR2A	chr18:9613588-9615646	Hela-S3	cervix:	n/a	n/a
23	REST	chr18:9613304-9615719	H1-neurons	neurons:	n/a	n/a
24	MAX	chr18:9614836-9615602	ECC-1	luminal epithelium:	n/a	chr18:9615546-9615554
25	POLR2A	chr18:9613811-9615738	Raji	blood:	n/a	n/a
26	POLR2A	chr18:9614815-9616269	PBDE	blood:	n/a	n/a
27	E2F6	chr18:9614862-9615604	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr18:9614765-9615790	H1-hESC	embryonic stem cell:	n/a	chr18:9615653-9615669 chr18:9614956-9614978 chr18:9615096-9615107 chr18:9614955-9614967
29	YY1	chr18:9615509-9615804	K562	blood:	n/a	chr18:9615653-9615669
30	POLR2A	chr18:9614933-9615633	U87	brain:	n/a	n/a
31	POLR2A	chr18:9614668-9615810	Hela-S3	cervix:	n/a	n/a
32	GATA1	chr18:9615396-9617194	PBDE	blood:	n/a	n/a
33	POLR2A	chr18:9614673-9615596	HUVEC	blood vessel:	n/a	n/a
34	HA-E2F1	chr18:9614778-9615715	MCF-7	breast:	n/a	chr18:9614834-9614843 chr18:9614846-9614856
35	MYC	chr18:9615175-9615603	MCF10A-Er-Src	breast:	n/a	chr18:9615546-9615554
36	POLR2A	chr18:9614650-9615825	PANC-1	pancreas:	n/a	n/a
37	MAX	chr18:9614647-9615804	K562	blood:	n/a	chr18:9615546-9615554
38	POLR2A	chr18:9612107-9616277	MCF10A-Er-Src	breast:	n/a	n/a
39	MAZ	chr18:9613571-9615725	IMR90	lung:	n/a	chr18:9614492-9614502 chr18:9615546-9615554

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
2	chr18:9614922..9615897-chrX:48815132..48816087,2	Hela-S3	cervix:
3	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
4	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
5	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
6	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
7	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
8	chr18:9615287..9617165-chr18:9631128..9633561,2	K562	blood:
9	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
10	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
11	chr18:9615576..9617257-chr18:9706860..9708949,2	K562	blood:
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:
20	chr18:9615456..9617526-chr18:9895448..9898198,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9615186-9616194	NONHSAT057231

No data

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	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
8	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:9612600-9615600	Active TSS	Right Ventricle	heart
3	chr18:9612600-9615800	Active TSS	Aorta	Aorta
4	chr18:9612800-9615600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr18:9613000-9615600	Active TSS	Fetal Brain Female	brain
6	chr18:9613200-9615600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr18:9613400-9615600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr18:9613400-9615600	Active TSS	Esophagus	oesophagus
9	chr18:9613400-9615600	Active TSS	Left Ventricle	heart
10	chr18:9613600-9615600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:9613600-9615800	Active TSS	Fetal Kidney	kidney
12	chr18:9613800-9615800	Active TSS	Primary T cells from cord blood	blood
13	chr18:9614800-9615800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:9615000-9615600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr18:9615000-9615600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:9615000-9615600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:9615000-9615800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr18:9615000-9615800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr18:9615000-9615800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:9615000-9615800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr18:9615000-9615800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:9615000-9616000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:9615000-9616000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr18:9615000-9616200	Flanking Active TSS	K562	blood
25	chr18:9615200-9615600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr18:9615200-9615600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:9615200-9615600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:9615200-9615600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr18:9615200-9615600	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr18:9615200-9615600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr18:9615200-9615600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr18:9615200-9615600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr18:9615200-9615600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr18:9615200-9615600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:9615200-9615600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr18:9615200-9615600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr18:9615200-9615600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr18:9615200-9615600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr18:9615200-9615600	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr18:9615200-9615600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr18:9615200-9615600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr18:9615200-9615600	Active TSS	Fetal Brain Male	brain
43	chr18:9615200-9615600	Flanking Active TSS	Fetal Heart	heart
44	chr18:9615200-9615600	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr18:9615200-9615600	Flanking Active TSS	Fetal Stomach	stomach
46	chr18:9615200-9615600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr18:9615200-9615600	Flanking Active TSS	Psoas Muscle	Psoas
48	chr18:9615200-9615600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr18:9615200-9615600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr18:9615200-9615600	Flanking Active TSS	Stomach Mucosa	stomach

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