Variant report

Variant	rs16836822
Chromosome Location	chr1:155290587-155290588
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155289700-155291469	GM12878	blood:	n/a	n/a
2	JUND	chr1:155290573-155290763	K562	blood:	n/a	n/a
3	CCNT2	chr1:155290501-155291278	K562	blood:	n/a	n/a
4	CTCF	chr1:155290540-155290690	HCPEpiC	choroid plexus:	n/a	n/a
5	POLR2A	chr1:155290203-155290900	K562	blood:	n/a	n/a
6	CEBPD	chr1:155290541-155290742	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:155289045-155291721	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:155290427-155290961	SK-N-SH	brain:	n/a	n/a
9	REST	chr1:155290193-155291335	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr1:155290577-155291028	Raji	blood:	n/a	n/a
11	POLR2A	chr1:155290483-155290866	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:155290401-155290889	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:155290433-155291101	H1-hESC	embryonic stem cell:	n/a	n/a
14	NRF1	chr1:155290474-155290851	GM12878	blood:	n/a	chr1:155290659-155290670 chr1:155290641-155290652
15	POLR2A	chr1:155289697-155291331	K562	blood:	n/a	n/a
16	POLR2A	chr1:155290361-155291157	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF143	chr1:155290564-155290737	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:155290509-155290904	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:155289217-155291291	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:155290245-155291186	GM12878	blood:	n/a	n/a
21	MTA3	chr1:155290287-155291691	GM12878	blood:	n/a	n/a
22	STAT5A	chr1:155290524-155290951	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:155290256-155291232	K562	blood:	n/a	n/a
24	POLR2A	chr1:155290545-155291029	GM12891	blood:	n/a	n/a
25	POLR2A	chr1:155285762-155295040	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:155289618-155291946	ECC-1	luminal epithelium:	n/a	n/a
27	SIN3AK20	chr1:155290439-155291132	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr1:155290530-155291077	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:155290379-155291310	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:155289966-155291313	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:155288287-155291476	U87	brain:	n/a	n/a
32	POLR2A	chr1:155290421-155291190	HepG2	liver:	n/a	n/a
33	FOSL2	chr1:155290443-155291666	HepG2	liver:	n/a	n/a
34	SP1	chr1:155290104-155290705	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:155285992-155291727	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:155287588-155292287	HL-60	blood:	n/a	n/a
37	BACH1	chr1:155290587-155290731	H1-hESC	embryonic stem cell:	n/a	n/a
38	NRF1	chr1:155290463-155290846	H1-hESC	embryonic stem cell:	n/a	chr1:155290659-155290670 chr1:155290641-155290652
39	POLR2A	chr1:155287550-155292168	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr1:155286497-155292073	PANC-1	pancreas:	n/a	n/a
41	MYC	chr1:155290558-155290771	K562	blood:	n/a	n/a
42	POLR2A	chr1:155289598-155291380	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr1:155290291-155291263	GM19099	blood:	n/a	n/a
44	POLR2A	chr1:155287495-155292212	MCF-7	breast:	n/a	n/a
45	POLR2A	chr1:155290407-155290907	HCT-116	colon:	n/a	n/a
46	POU2F2	chr1:155290447-155290820	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:155290426-155291609	HL-60	blood:	n/a	n/a
48	POLR2A	chr1:155290411-155291222	HepG2	liver:	n/a	n/a
49	POLR2A	chr1:155287514-155291951	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr1:155289543-155291208	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155290542-155290592	GM12891	blood:	n/a
2	chr1:155290542-155290592	SAEC	small airway:	n/a
3	chr1:155290542-155290592	NHBE	bronchial:	n/a
4	chr1:155290542-155290592	PFSK-1	brain:	n/a
5	chr1:155290542-155290592	GM12892	blood:	n/a
6	chr1:155290542-155290592	AG04449	skin:	fetal
7	chr1:155290542-155290592	NHDF-neo	bronchial:	n/a
8	chr1:155290542-155290592	LNCaP	prostate:	n/a
9	chr1:155290542-155290592	HUVEC	blood vessel:	n/a
10	chr1:155290542-155290592	A549	lung:	n/a
11	chr1:155290542-155290592	SKMC	muscle:	n/a
12	chr1:155290542-155290592	HMEC	breast:	n/a
13	chr1:155290542-155290592	Caco-2	colon:	n/a
14	chr1:155290542-155290592	PANC-1	pancreas:	n/a
15	chr1:155290542-155290592	K562	blood:	n/a
16	chr1:155290542-155290592	HepG2	liver:	n/a
17	chr1:155290542-155290592	MCF-7	breast:	n/a
18	chr1:155290542-155290592	HNPCEpiC	eye:	n/a
19	chr1:155290542-155290592	NH-A	brain:	n/a
20	chr1:155290542-155290592	ovcar-3	ovarian:	n/a
21	chr1:155290542-155290592	AG09309	skin:	n/a
22	chr1:155290542-155290592	HRE	kidney:	n/a
23	chr1:155290542-155290592	NB4	blood:	n/a
24	chr1:155290542-155290592	HCT-116	colon:	n/a
25	chr1:155290542-155290592	CMK	blood:	n/a
26	chr1:155290542-155290592	T-47D	breast:	n/a
27	chr1:155290542-155290592	HAEpiC	amniotic membrane:	n/a
28	chr1:155290542-155290592	HRCEpiC	kidney:	n/a
29	chr1:155290542-155290592	H1-hESC	embryonic stem cell:	embryo
30	chr1:155290542-155290592	HCF	heart:	n/a
31	chr1:155290542-155290592	HIPEpiC	eye:	n/a
32	chr1:155290542-155290592	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:155290542-155290592	GM06990	blood:	n/a
34	chr1:155290542-155290592	GM12878	blood:	n/a
35	chr1:155290542-155290592	Jurkat	blood:	n/a
36	chr1:155290542-155290592	HRPEpiC	eye:	n/a
37	chr1:155290542-155290592	BJ	skin:	n/a
38	chr1:155290542-155290592	HEK293	kidney:	embryo
39	chr1:155290542-155290592	Hepatocyte	liver:	n/a
40	chr1:155290542-155290592	AG10803	skin:	n/a
41	chr1:155290542-155290592	HEEpiC	esophagus:	n/a
42	chr1:155290542-155290592	SK-N-SH	brain:	n/a
43	chr1:155290542-155290592	PrEC	prostate:	n/a
44	chr1:155290542-155290592	NT2-D1	testis:	n/a
45	chr1:155290542-155290592	SK-N-SH_RA	brain:	n/a
46	chr1:155290542-155290592	AG09319	gingival:	n/a
47	chr1:155290542-155290592	IMR90	lung:	fetal
48	chr1:155290542-155290592	MCF10A-Er-Src	breast:	n/a
49	chr1:155290542-155290592	AoSMC	blood vessel:	n/a
50	chr1:155290542-155290592	HCM	heart:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155175235..155178055-chr1:155287836..155290793,2	MCF-7	breast:
2	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
3	chr1:155226986..155228712-chr1:155289329..155291450,2	K562	blood:
4	chr1:155213696..155217007-chr1:155289069..155291862,3	K562	blood:
5	chr1:155161236..155164985-chr1:155290580..155295192,7	K562	blood:
6	chr1:155240682..155244991-chr1:155289682..155296120,12	MCF-7	breast:
7	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
8	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
9	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
10	chr1:155290471..155293068-chr1:155560702..155562665,2	MCF-7	breast:
11	chr1:155231157..155233872-chr1:155289047..155290722,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASH1L-1	chr1:155289950-155291486	ENSG00000225855.2

No data

Variant related genes	Relation type
RUSC1	TF binding region
RUSC1	CpG island
ENSG00000176444	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000223503	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000177628	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10157264	1.00[AMR][1000 genomes]
rs35826120	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60211142	1.00[AMR][1000 genomes]
rs60455144	1.00[AMR][1000 genomes]
rs60650386	1.00[AMR][1000 genomes]
rs61518562	1.00[AMR][1000 genomes]
rs61732801	1.00[AMR][1000 genomes]
rs7549232	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs8177963	1.00[AMR][1000 genomes]
rs9803672	1.00[AMR][1000 genomes]

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	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
8	nsv946413	chr1:155286949-155296660	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:155280800-155290600	Weak transcription	Small Intestine	intestine
2	chr1:155281400-155290600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:155281600-155290600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155282200-155290600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:155286200-155290800	Strong transcription	Dnd41	blood
6	chr1:155286600-155290600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:155286600-155290600	Strong transcription	Hela-S3	cervix
8	chr1:155287200-155290600	Strong transcription	A549	lung
9	chr1:155287200-155290600	Strong transcription	HepG2	liver
10	chr1:155287600-155290800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:155287800-155293200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:155288800-155290600	Genic enhancers	HMEC	breast
13	chr1:155289200-155292000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:155289800-155290600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:155289800-155291000	Flanking Active TSS	Fetal Lung	lung
16	chr1:155289800-155291400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:155289800-155292000	Transcr. at gene 5' and 3'	NHLF	lung
18	chr1:155290000-155290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:155290000-155290600	Genic enhancers	NHEK	skin
20	chr1:155290000-155290800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:155290000-155291000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:155290000-155291000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:155290000-155291200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:155290000-155291600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:155290000-155291600	Weak transcription	HSMMtube	muscle
26	chr1:155290000-155292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:155290000-155292600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr1:155290000-155293000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:155290200-155290600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:155290200-155290600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:155290200-155290600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr1:155290200-155290600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:155290200-155290600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:155290200-155290600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
35	chr1:155290200-155290600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:155290200-155290600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:155290200-155290600	Flanking Active TSS	Fetal Brain Male	brain
38	chr1:155290200-155290600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chr1:155290200-155290600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
40	chr1:155290200-155290600	Enhancers	Pancreas	Pancrea
41	chr1:155290200-155290600	Flanking Active TSS	Right Ventricle	heart
42	chr1:155290200-155290600	Flanking Active TSS	Osteobl	bone
43	chr1:155290200-155290800	Active TSS	Brain Anterior Caudate	brain
44	chr1:155290200-155290800	Active TSS	Brain Germinal Matrix	brain
45	chr1:155290200-155290800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:155290200-155290800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:155290200-155290800	Flanking Active TSS	Thymus	Thymus
48	chr1:155290200-155291000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:155290200-155291000	Active TSS	Fetal Brain Female	brain
50	chr1:155290200-155291000	Flanking Active TSS	HUVEC	blood vessel

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