Variant report

Variant	rs16990001
Chromosome Location	chr22:32600915-32600916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32600836-32601355	ECC-1	luminal epithelium:	n/a	n/a
2	E2F4	chr22:32600904-32601210	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr22:32600831-32601308	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr22:32600853-32601335	SK-N-SH	brain:	n/a	n/a
5	MAX	chr22:32600193-32601362	ECC-1	luminal epithelium:	n/a	n/a
6	SIN3A	chr22:32600188-32601249	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr22:32600108-32601462	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr22:32600811-32601373	HepG2	liver:	n/a	n/a
9	MXI1	chr22:32599656-32601962	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr22:32600049-32601474	H1-neurons	neurons:	n/a	n/a
11	E2F6	chr22:32600888-32601407	H1-hESC	embryonic stem cell:	n/a	n/a
12	HEY1	chr22:32600862-32601298	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:32600874-32601242	HepG2	liver:	n/a	n/a
14	REST	chr22:32600368-32601484	H1-neurons	neurons:	n/a	n/a
15	MAX	chr22:32600224-32601424	HepG2	liver:	n/a	n/a
16	REST	chr22:32600148-32601697	H1-neurons	neurons:	n/a	n/a
17	TAF1	chr22:32600501-32601344	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr22:32600594-32601359	HCT-116	colon:	n/a	n/a
19	JUND	chr22:32600873-32601295	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZNF263	chr22:32600387-32601249	HEK293-T-REx	kidney:	n/a	n/a
21	MAX	chr22:32600574-32601288	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr22:32600600-32601266	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr22:32600146-32601432	A549	lung:	n/a	n/a
24	MAX	chr22:32600146-32601497	A549	lung:	n/a	n/a
25	POLR2A	chr22:32600876-32601328	HCT-116	colon:	n/a	n/a
26	MAX	chr22:32600434-32601349	MCF-7	breast:	n/a	n/a
27	POLR2A	chr22:32600119-32601453	H1-neurons	neurons:	n/a	n/a
28	MAX	chr22:32600889-32601406	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr22:32600910-32601239	PBDE	blood:	n/a	n/a
30	RCOR1	chr22:32600874-32601236	HepG2	liver:	n/a	n/a
31	GATA2	chr22:32600775-32601229	SH-SY5Y	brain:	n/a	n/a
32	MYC	chr22:32600695-32601251	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr22:32600816-32601330	HCT-116	colon:	n/a	n/a
34	NRF1	chr22:32600046-32601438	SK-N-SH	brain:	n/a	n/a
35	KAP1	chr22:32600600-32601196	U2OS	brain:	n/a	n/a
36	POLR2A	chr22:32600306-32601379	HEK293	kidney:	n/a	n/a
37	E2F6	chr22:32600296-32601433	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr22:32600854-32601360	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr22:32600717-32601313	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr22:32600185-32601410	HepG2	liver:	n/a	n/a
41	MAX	chr22:32600523-32601382	SK-N-SH	brain:	n/a	n/a
42	CTBP2	chr22:32600303-32601240	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr22:32600450-32601325	HepG2	liver:	n/a	n/a
44	MAX	chr22:32600148-32601423	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr22:32600828-32601291	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	chr22:32600914-32600964	SK-N-SH	brain:	n/a
2	chr22:32600914-32600964	PANC-1	pancreas:	n/a
3	chr22:32600914-32600964	MCF-7	breast:	n/a
4	chr22:32600914-32600964	HIPEpiC	eye:	n/a
5	chr22:32600914-32600964	Hepatocyte	liver:	n/a
6	chr22:32600914-32600964	HCPEpiC	choroid plexus:	n/a
7	chr22:32600914-32600964	GM12878	blood:	n/a
8	chr22:32600914-32600964	SAEC	small airway:	n/a
9	chr22:32600914-32600964	HCT-116	colon:	n/a
10	chr22:32600914-32600964	AoSMC	blood vessel:	n/a
11	chr22:32600914-32600964	HCF	heart:	n/a
12	chr22:32600914-32600964	AG10803	skin:	n/a
13	chr22:32600914-32600964	MCF10A-Er-Src	breast:	n/a
14	chr22:32600914-32600964	AG04450	lung:	fetal
15	chr22:32600914-32600964	ovcar-3	ovarian:	n/a
16	chr22:32600914-32600964	H1-hESC	embryonic stem cell:	embryo
17	chr22:32600914-32600964	SK-N-MC	brain:	n/a
18	chr22:32600914-32600964	HPAEpiC	pulmonary alveolar:	n/a
19	chr22:32600914-32600964	NB4	blood:	n/a
20	chr22:32600914-32600964	BE2_C	brain:	n/a
21	chr22:32600914-32600964	PFSK-1	brain:	n/a
22	chr22:32600914-32600964	AG09319	gingival:	n/a
23	chr22:32600914-32600964	Hela-S3	cervix:	n/a
24	chr22:32600914-32600964	BJ	skin:	n/a
25	chr22:32600914-32600964	HEEpiC	esophagus:	n/a
26	chr22:32600914-32600964	HCM	heart:	n/a
27	chr22:32600914-32600964	HNPCEpiC	eye:	n/a
28	chr22:32600914-32600964	IMR90	lung:	fetal
29	chr22:32600914-32600964	SKMC	muscle:	n/a
30	chr22:32600914-32600964	HRE	kidney:	n/a
31	chr22:32600914-32600964	HRPEpiC	eye:	n/a
32	chr22:32600914-32600964	HRCEpiC	kidney:	n/a
33	chr22:32600914-32600964	GM12892	blood:	n/a
34	chr22:32600914-32600964	HEK293	kidney:	embryo
35	chr22:32600914-32600964	ProgFib	skin:	n/a
36	chr22:32600914-32600964	GM12891	blood:	n/a
37	chr22:32600914-32600964	PrEC	prostate:	n/a
38	chr22:32600914-32600964	GM06990	blood:	n/a
39	chr22:32600914-32600964	HepG2	liver:	n/a
40	chr22:32600914-32600964	GM19239	blood:	n/a
41	chr22:32600914-32600964	AG09309	skin:	n/a
42	chr22:32600914-32600964	K562	blood:	n/a
43	chr22:32600914-32600964	NT2-D1	testis:	n/a
44	chr22:32600914-32600964	U87	brain:	n/a
45	chr22:32600914-32600964	HMEC	breast:	n/a
46	chr22:32600914-32600964	NHBE	bronchial:	n/a
47	chr22:32600914-32600964	HUVEC	blood vessel:	n/a
48	chr22:32600914-32600964	Jurkat	blood:	n/a
49	chr22:32600914-32600964	NH-A	brain:	n/a
50	chr22:32600914-32600964	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31936958-31958600..22:32594665-32606395	K562	blood:

No data

Variant related genes	Relation type
RFPL2	TF binding region
ENSG00000242082	TF binding region
RFPL2	CpG island
ENSG00000242082	CpG island
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12160108	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs136485	1.00[JPT][hapmap]
rs136486	1.00[JPT][hapmap]
rs136487	1.00[JPT][hapmap]
rs136488	1.00[JPT][hapmap]
rs136489	1.00[JPT][hapmap]
rs16989807	1.00[CHB][hapmap]
rs16989809	1.00[CHB][hapmap]
rs16989893	1.00[CHB][hapmap]
rs16990004	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57468334	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994502	1.00[JPT][hapmap]
rs5998300	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5998318	0.86[JPT][hapmap]
rs5998326	0.87[CHD][hapmap]
rs7292474	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs760556	0.94[ASN][1000 genomes]
rs9621409	0.82[TSI][hapmap]

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	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv3597	chr22:32588424-32632724	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32598400-32602800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:32598600-32601200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr22:32598600-32601400	Active TSS	Brain Anterior Caudate	brain
4	chr22:32598600-32601800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr22:32598600-32601800	Active TSS	Brain Angular Gyrus	brain
6	chr22:32598600-32601800	Active TSS	A549	lung
7	chr22:32598600-32603400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:32598800-32601000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:32598800-32601000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr22:32598800-32601800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr22:32599200-32601800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr22:32599600-32601400	Active TSS	Brain Cingulate Gyrus	brain
13	chr22:32599600-32602600	Active TSS	Duodenum Mucosa	Duodenum
14	chr22:32599800-32601200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr22:32600000-32601000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr22:32600000-32601200	Active TSS	Right Ventricle	heart
17	chr22:32600000-32601800	Active TSS	Fetal Brain Female	brain
18	chr22:32600000-32602000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:32600000-32602600	Weak transcription	Spleen	Spleen
20	chr22:32600000-32603200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr22:32600200-32601000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:32600200-32601000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr22:32600200-32601000	Bivalent/Poised TSS	NHEK	skin
24	chr22:32600200-32601200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
25	chr22:32600200-32601400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr22:32600200-32601400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr22:32600200-32601400	Bivalent Enhancer	Placenta	Placenta
28	chr22:32600200-32601400	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr22:32600200-32601600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:32600200-32601600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr22:32600400-32601000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr22:32600400-32601000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:32600400-32601000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:32600400-32601000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
35	chr22:32600400-32601000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:32600400-32601000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:32600400-32601000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:32600400-32601000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
39	chr22:32600400-32601000	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr22:32600400-32601200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:32600400-32601200	Flanking Active TSS	Liver	Liver
42	chr22:32600400-32601200	Enhancers	Lung	lung
43	chr22:32600400-32601400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:32600400-32601400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr22:32600600-32601000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
46	chr22:32600600-32601000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr22:32600600-32601000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr22:32600600-32601000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr22:32600600-32601000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr22:32600600-32601000	Active TSS	Primary T killer memory cells from peripheral blood	blood

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