Variant report

Variant	rs555948355
Chromosome Location	chr18:9613884-9613885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr18:9613674-9614644	HepG2	liver:	n/a	chr18:9614500-9614511 chr18:9614439-9614453 chr18:9614474-9614486 chr18:9614444-9614453 chr18:9614442-9614456
2	POLR2A	chr18:9613851-9615329	GM18526	blood:	n/a	n/a
3	CTCF	chr18:9613760-9613910	Hela-S3	cervix:	n/a	n/a
4	MAX	chr18:9613825-9614321	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr18:9613765-9614312	H1-hESC	embryonic stem cell:	n/a	n/a
6	HEY1	chr18:9613755-9614296	K562	blood:	n/a	n/a
7	POLR2A	chr18:9613876-9614305	A549	lung:	n/a	n/a
8	POLR2A	chr18:9613796-9615286	K562	blood:	n/a	n/a
9	SMARCB1	chr18:9613668-9615396	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr18:9613816-9614222	A549	lung:	n/a	n/a
11	HA-E2F1	chr18:9613585-9614148	MCF-7	breast:	n/a	chr18:9614041-9614055
12	POLR2A	chr18:9613682-9615417	ProgFib	skin:	n/a	n/a
13	POLR2A	chr18:9613810-9615336	GM18951	blood:	n/a	n/a
14	JUN	chr18:9613840-9613978	K562	blood:	n/a	n/a
15	POLR2A	chr18:9613799-9614105	HepG2	liver:	n/a	n/a
16	MAX	chr18:9613724-9614321	K562	blood:	n/a	n/a
17	POLR2A	chr18:9613461-9615883	HUVEC	blood vessel:	n/a	n/a
18	TCF12	chr18:9613759-9614312	ECC-1	luminal epithelium:	n/a	n/a
19	MAZ	chr18:9613545-9615746	K562	blood:	n/a	chr18:9614492-9614502 chr18:9615546-9615554
20	ELF1	chr18:9613823-9614224	K562	blood:	n/a	chr18:9613941-9613953
21	POLR2A	chr18:9613835-9615686	K562	blood:	n/a	n/a
22	MAX	chr18:9613775-9614277	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr18:9613825-9614615	HUVEC	blood vessel:	n/a	n/a
24	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
25	ZBTB7A	chr18:9613566-9615236	ECC-1	luminal epithelium:	n/a	chr18:9614483-9614494
26	POLR2A	chr18:9613738-9615413	GM19099	blood:	n/a	n/a
27	MYC	chr18:9613574-9614267	NB4	blood:	n/a	n/a
28	RAD21	chr18:9613875-9614331	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAZ	chr18:9613689-9615350	Hela-S3	cervix:	n/a	chr18:9614492-9614502
30	POLR2A	chr18:9613578-9614286	U87	brain:	n/a	n/a
31	EGR1	chr18:9613844-9614268	K562	blood:	n/a	chr18:9614106-9614119
32	GTF2F1	chr18:9613638-9614028	Hela-S3	cervix:	n/a	n/a
33	ESR1	chr18:9613565-9613937	T-47D	breast:	n/a	n/a
34	RAD21	chr18:9613501-9614297	IMR90	lung:	n/a	n/a
35	CTCFL	chr18:9613877-9614240	K562	blood:	n/a	n/a
36	POLR2A	chr18:9613542-9615772	H1-hESC	embryonic stem cell:	n/a	n/a
37	HCFC1	chr18:9613818-9614485	K562	blood:	n/a	n/a
38	PML	chr18:9613570-9614236	GM12878	blood:	n/a	n/a
39	POLR2A	chr18:9613756-9614237	GM12892	blood:	n/a	n/a
40	CTCF	chr18:9613800-9613950	GM12875	blood:	n/a	n/a
41	MXI1	chr18:9613361-9615682	IMR90	lung:	n/a	n/a
42	POLR2A	chr18:9613751-9614323	K562	blood:	n/a	n/a
43	CCNT2	chr18:9613769-9615322	K562	blood:	n/a	chr18:9615058-9615067 chr18:9615031-9615040
44	MYC	chr18:9613854-9614544	K562	blood:	n/a	chr18:9614492-9614502
45	ZC3H11A	chr18:9613834-9613907	K562	blood:	n/a	n/a
46	POLR2A	chr18:9613657-9614253	U87	brain:	n/a	n/a
47	POLR2A	chr18:9613599-9615472	K562	blood:	n/a	n/a
48	POLR2A	chr18:9613713-9615392	MCF-7	breast:	n/a	n/a
49	MAX	chr18:9613657-9614365	MCF-7	breast:	n/a	n/a
50	POLR2A	chr18:9613695-9615374	HUVEC	blood vessel:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
3	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
4	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
5	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
6	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
7	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
8	chr18:9584254..9588034-chr18:9613364..9615601,3	MCF-7	breast:
9	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
10	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
11	chr18:9613618..9614587-chr22:31686737..31687476,2	Hela-S3	cervix:
12	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
13	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:

No data

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000263627	TF binding region
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000266541	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000265564	Chromatin interaction
ENSG00000272799	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	esv1836290	chr18:9611497-9614851	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9612000-9615000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr18:9612200-9615200	Active TSS	NHLF	lung
3	chr18:9612400-9614800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:9612400-9615200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:9612400-9615200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:9612400-9615200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9612400-9615400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:9612600-9615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:9612600-9615200	Active TSS	HMEC	breast
11	chr18:9612600-9615400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr18:9612600-9615400	Active TSS	Ovary	ovary
13	chr18:9612600-9615600	Active TSS	Right Ventricle	heart
14	chr18:9612600-9615800	Active TSS	Aorta	Aorta
15	chr18:9612800-9614000	Active TSS	Fetal Brain Male	brain
16	chr18:9612800-9615000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:9612800-9615200	Active TSS	Fetal Muscle Leg	muscle
18	chr18:9612800-9615200	Active TSS	HSMM	muscle
19	chr18:9612800-9615200	Active TSS	HSMMtube	muscle
20	chr18:9612800-9615200	Active TSS	NHDF-Ad	bronchial
21	chr18:9612800-9615400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr18:9612800-9615400	Active TSS	A549	lung
23	chr18:9612800-9615600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr18:9613000-9614000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr18:9613000-9615200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr18:9613000-9615200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:9613000-9615200	Active TSS	Fetal Stomach	stomach
28	chr18:9613000-9615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr18:9613000-9615600	Active TSS	Fetal Brain Female	brain
30	chr18:9613200-9614200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr18:9613200-9614200	Active TSS	Fetal Lung	lung
32	chr18:9613200-9615000	Active TSS	K562	blood
33	chr18:9613200-9615200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr18:9613200-9615200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr18:9613200-9615200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr18:9613200-9615200	Active TSS	Brain Cingulate Gyrus	brain
37	chr18:9613200-9615200	Active TSS	Brain Hippocampus Middle	brain
38	chr18:9613200-9615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:9613200-9615200	Active TSS	Brain Substantia Nigra	brain
40	chr18:9613200-9615200	Active TSS	Colonic Mucosa	Colon
41	chr18:9613200-9615200	Active TSS	Fetal Intestine Small	intestine
42	chr18:9613200-9615200	Active TSS	Placenta	Placenta
43	chr18:9613200-9615200	Active TSS	Fetal Thymus	thymus
44	chr18:9613200-9615200	Active TSS	Stomach Smooth Muscle	stomach
45	chr18:9613200-9615200	Active TSS	NHEK	skin
46	chr18:9613200-9615400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:9613200-9615400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:9613200-9615400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:9613200-9615400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:9613200-9615400	Active TSS	Colon Smooth Muscle	Colon

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