Variant report

Variant	rs373028841
Chromosome Location	chr18:6729676-6729677
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	MXI1	chr18:6729338-6730293	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr18:6729599-6729949	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr18:6729020-6730259	H1-hESC	embryonic stem cell:	n/a	chr18:6729601-6729611
4	POLR2A	chr18:6729306-6730064	HEK293	kidney:	n/a	n/a
5	YY1	chr18:6729559-6730037	SK-N-SH_RA	brain:	n/a	chr18:6729725-6729734 chr18:6729966-6729980
6	CREB1	chr18:6729502-6730135	K562	blood:	n/a	n/a
7	POLR2A	chr18:6729097-6730180	K562	blood:	n/a	n/a
8	SIN3A	chr18:6729002-6730142	H1-hESC	embryonic stem cell:	n/a	chr18:6729730-6729741 chr18:6729718-6729731
9	MYC	chr18:6729108-6730079	MCF10A-Er-Src	breast:	n/a	chr18:6729601-6729611
10	JUND	chr18:6728927-6730162	H1-hESC	embryonic stem cell:	n/a	chr18:6728931-6728940
11	REST	chr18:6728701-6730477	H1-neurons	neurons:	n/a	chr18:6729715-6729728 chr18:6729711-6729731
12	TAF1	chr18:6729584-6730158	H1-neurons	neurons:	n/a	n/a
13	TAF1	chr18:6729488-6730070	K562	blood:	n/a	n/a
14	SMARCB1	chr18:6729202-6730184	Hela-S3	cervix:	n/a	n/a
15	E2F6	chr18:6728839-6730248	K562	blood:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
16	POLR2A	chr18:6728885-6730175	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr18:6729511-6730189	K562	blood:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
18	ETS1	chr18:6729627-6730052	K562	blood:	n/a	n/a
19	POLR2A	chr18:6728941-6730271	U87	brain:	n/a	n/a
20	REST	chr18:6729095-6729719	H1-neurons	neurons:	n/a	n/a
21	CREB1	chr18:6729105-6730202	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr18:6729660-6730193	Hela-S3	cervix:	n/a	n/a
23	ZKSCAN1	chr18:6729379-6730073	Hela-S3	cervix:	n/a	n/a
24	YY1	chr18:6729600-6730132	H1-hESC	embryonic stem cell:	n/a	chr18:6729725-6729734 chr18:6729966-6729980
25	TCF12	chr18:6729444-6730084	ECC-1	luminal epithelium:	n/a	n/a
26	ZNF263	chr18:6728746-6730123	HEK293-T-REx	kidney:	n/a	chr18:6728824-6728833
27	POLR2A	chr18:6729594-6729855	MCF10A-Er-Src	breast:	n/a	n/a
28	ZNF384	chr18:6728819-6730093	K562	blood:	n/a	n/a
29	POLR2A	chr18:6729051-6730149	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr18:6729271-6730154	Gliobla	brain:	n/a	n/a
31	HDAC2	chr18:6729492-6730134	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr18:6729210-6730123	K562	blood:	n/a	n/a
33	RAD21	chr18:6728907-6730184	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3AK20	chr18:6729547-6730058	SK-N-SH	brain:	n/a	n/a
35	ZNF143	chr18:6729558-6730081	H1-hESC	embryonic stem cell:	n/a	n/a
36	HCFC1	chr18:6729270-6730130	K562	blood:	n/a	n/a
37	MAX	chr18:6729079-6730185	K562	blood:	n/a	chr18:6729601-6729611
38	CREB1	chr18:6729209-6730133	K562	blood:	n/a	n/a
39	TAF1	chr18:6729521-6729881	K562	blood:	n/a	n/a
40	MAZ	chr18:6728769-6730272	IMR90	lung:	n/a	chr18:6729601-6729611
41	EGR1	chr18:6729430-6729761	K562	blood:	n/a	chr18:6729601-6729614 chr18:6729601-6729611
42	POLR2A	chr18:6728653-6730345	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr18:6729671-6730312	H1-hESC	embryonic stem cell:	n/a	chr18:6729725-6729734
44	POLR2A	chr18:6728829-6730163	K562	blood:	n/a	n/a
45	TBL1XR1	chr18:6729431-6730140	K562	blood:	n/a	n/a
46	MAX	chr18:6729040-6730182	K562	blood:	n/a	chr18:6729601-6729611
47	POLR2A	chr18:6728912-6730235	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr18:6729587-6730126	K562	blood:	n/a	chr18:6730067-6730075 chr18:6729959-6729968
49	RFX5	chr18:6729099-6730146	Hela-S3	cervix:	n/a	n/a
50	HMGN3	chr18:6728713-6730134	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP28	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1057885	chr18:6598684-6754548	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv2566842	chr18:6728880-6730366	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3417418	chr18:6729302-6731400	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6728400-6730600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:6728600-6730600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr18:6728800-6730000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr18:6728800-6730200	Active TSS	Osteobl	bone
5	chr18:6728800-6730400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:6728800-6730400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr18:6728800-6730400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:6728800-6730400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr18:6728800-6730600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr18:6728800-6730600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:6728800-6730800	Active TSS	Fetal Muscle Trunk	muscle
12	chr18:6728800-6730800	Active TSS	Stomach Smooth Muscle	stomach
13	chr18:6729000-6730000	Active TSS	Lung	lung
14	chr18:6729000-6730000	Active TSS	Pancreas	Pancrea
15	chr18:6729000-6730200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:6729000-6730200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:6729000-6730200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:6729000-6730200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:6729000-6730200	Active TSS	Brain Cingulate Gyrus	brain
20	chr18:6729000-6730200	Active TSS	Brain Hippocampus Middle	brain
21	chr18:6729000-6730200	Active TSS	Duodenum Mucosa	Duodenum
22	chr18:6729000-6730200	Active TSS	Left Ventricle	heart
23	chr18:6729000-6730200	Bivalent/Poised TSS	Thymus	Thymus
24	chr18:6729000-6730200	Bivalent/Poised TSS	HepG2	liver
25	chr18:6729000-6730400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr18:6729000-6730400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr18:6729000-6730400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr18:6729000-6730400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:6729000-6730400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:6729000-6730400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:6729000-6730400	Active TSS	Brain Anterior Caudate	brain
32	chr18:6729000-6730400	Active TSS	Fetal Kidney	kidney
33	chr18:6729000-6730400	Active TSS	Right Ventricle	heart
34	chr18:6729000-6730400	Active TSS	NHDF-Ad	bronchial
35	chr18:6729000-6730600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:6729000-6730600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr18:6729000-6730600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:6729000-6730600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:6729000-6730600	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr18:6729000-6730600	Active TSS	Brain Substantia Nigra	brain
41	chr18:6729000-6730600	Active TSS	Fetal Brain Female	brain
42	chr18:6729000-6730600	Active TSS	HMEC	breast
43	chr18:6729000-6730800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr18:6729000-6730800	Active TSS	Psoas Muscle	Psoas
45	chr18:6729000-6730800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr18:6729000-6730800	Active TSS	Rectal Smooth Muscle	rectum
47	chr18:6729000-6730800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr18:6729000-6731200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr18:6729000-6731200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:6729000-6731400	Active TSS	Fetal Intestine Large	intestine

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