Variant report

Variant	rs73382331
Chromosome Location	chr22:22006730-22006731
allele	A/G
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	POLR2A	chr22:22005534-22006816	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr22:22005849-22006789	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPD	chr22:22004950-22007391	K562	blood:	n/a	chr22:22006352-22006363
4	POLR2A	chr22:22006165-22006809	U87	brain:	n/a	n/a
5	POLR2A	chr22:22005137-22007763	K562	blood:	n/a	n/a
6	NFYB	chr22:22005667-22007024	K562	blood:	n/a	chr22:22006414-22006429 chr22:22006416-22006426 chr22:22006326-22006341 chr22:22006414-22006429 chr22:22006329-22006343 chr22:22006329-22006344 chr22:22006329-22006344 chr22:22006414-22006428
7	FOXP2	chr22:22006319-22006760	PFSK-1	brain:	n/a	n/a
8	RFX5	chr22:22006182-22006833	Hela-S3	cervix:	n/a	chr22:22006332-22006341 chr22:22006417-22006426
9	NR2F2	chr22:22004454-22008653	K562	blood:	n/a	n/a
10	YY1	chr22:22006299-22006733	A549	lung:	n/a	chr22:22006685-22006694
11	FOXM1	chr22:22006090-22006826	MCF-7	breast:	n/a	n/a
12	SMARCB1	chr22:22005221-22007330	K562	blood:	n/a	n/a
13	POLR2A	chr22:22005443-22006747	GM18505	blood:	n/a	n/a
14	MAX	chr22:22005616-22006852	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:22004761-22007521	K562	blood:	n/a	n/a
16	PBX3	chr22:22006030-22006833	SK-N-SH	brain:	n/a	chr22:22006417-22006426 chr22:22006332-22006341
17	TBL1XR1	chr22:22005309-22006815	K562	blood:	n/a	n/a
18	POLR2A	chr22:22005562-22006742	GM18526	blood:	n/a	n/a
19	SIN3AK20	chr22:22005845-22006770	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr22:22006379-22006733	HepG2	liver:	n/a	n/a
21	RCOR1	chr22:22005216-22007325	K562	blood:	n/a	n/a
22	MAZ	chr22:22006413-22006754	Hela-S3	cervix:	n/a	n/a
23	MAX	chr22:22006109-22006748	Hela-S3	cervix:	n/a	n/a
24	SIN3A	chr22:22005437-22007822	H1-hESC	embryonic stem cell:	n/a	chr22:22005713-22005721 chr22:22006403-22006416 chr22:22007120-22007134
25	NR2F2	chr22:22004662-22008799	K562	blood:	n/a	n/a
26	POLR2A	chr22:22005471-22006736	MCF-7	breast:	n/a	n/a
27	CBX3	chr22:22004518-22007512	K562	blood:	n/a	n/a
28	PML	chr22:22005016-22007901	K562	blood:	n/a	chr22:22005344-22005352
29	POLR2A	chr22:22005111-22006874	GM18951	blood:	n/a	n/a
30	MAFK	chr22:22005297-22006796	K562	blood:	n/a	n/a
31	THAP1	chr22:22005064-22008219	K562	blood:	n/a	n/a
32	MYC	chr22:22005329-22007270	K562	blood:	n/a	n/a
33	PML	chr22:22005884-22006852	GM12878	blood:	n/a	n/a
34	NFYA	chr22:22005588-22007011	K562	blood:	n/a	chr22:22006414-22006429 chr22:22006416-22006426 chr22:22006414-22006429 chr22:22006329-22006343 chr22:22006329-22006344 chr22:22006329-22006344 chr22:22006373-22006391 chr22:22006414-22006428
35	SIN3A	chr22:22006011-22006763	GM12878	blood:	n/a	chr22:22006403-22006416
36	POLR2A	chr22:22005158-22006864	K562	blood:	n/a	n/a
37	RFX5	chr22:22006190-22006757	HepG2	liver:	n/a	chr22:22006332-22006341 chr22:22006417-22006426
38	MYC	chr22:22006298-22006815	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr22:22006097-22006760	ProgFib	skin:	n/a	n/a
40	MAX	chr22:22006308-22006801	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr22:22005556-22006808	SK-N-MC	brain:	n/a	n/a
42	E2F6	chr22:22005246-22007387	K562	blood:	n/a	chr22:22007224-22007236 chr22:22006159-22006169 chr22:22006322-22006332 chr22:22006323-22006333
43	ETS1	chr22:22005139-22008071	K562	blood:	n/a	chr22:22005850-22005857 chr22:22005848-22005857 chr22:22007415-22007428
44	POLR2A	chr22:22005111-22007673	PFSK-1	brain:	n/a	n/a
45	CHD2	chr22:22005248-22007272	K562	blood:	n/a	n/a
46	POLR2A	chr22:22005305-22006733	GM19099	blood:	n/a	n/a
47	POLR2A	chr22:22006251-22006810	H1-neurons	neurons:	n/a	n/a
48	MAZ	chr22:22005688-22006984	IMR90	lung:	n/a	n/a
49	MAX	chr22:22004994-22007381	K562	blood:	n/a	n/a
50	MAX	chr22:22005603-22006837	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21982497..21985083-chr22:22004368..22006741,4	MCF-7	breast:
2	chr22:22005965..22007764-chr22:22291588..22295229,3	K562	blood:
3	chr22:21355601..21357315-chr22:22006287..22008814,2	K562	blood:
4	chr22:22005749..22007465-chr22:22293364..22295229,2	K562	blood:
5	chr22:22005850..22008007-chr3:155571064..155572872,2	K562	blood:
6	chr22:21982265..21985710-chr22:22005242..22008783,5	MCF-7	breast:
7	chr22:22004774..22007479-chr22:22898413..22901210,2	K562	blood:
8	chr22:22004774..22008117-chr22:22898413..22901210,3	K562	blood:
9	chr22:22005826..22007484-chr22:22335133..22337197,2	K562	blood:
10	chr22:22003932..22007330-chr22:22018565..22021264,4	MCF-7	breast:
11	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:
12	chr22:21920727..21924429-chr22:22006455..22008474,3	MCF-7	breast:
13	chr22:22006264..22009261-chr22:22291037..22293088,2	K562	blood:

Variant related genes	Relation type
MIR130B	TF binding region
MIR301B	TF binding region
ENSG00000185651	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000169359	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55671725	0.81[AFR][1000 genomes]
rs60997543	0.81[AFR][1000 genomes]
rs73382335	0.84[AFR][1000 genomes]
rs73382344	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
15	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers 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	348 gene(s)	inside rSNPs	diseases
16	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 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	chr22:22005200-22007400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:22005200-22007600	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr22:22005400-22006800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr22:22005400-22006800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:22005400-22007000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr22:22005400-22007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:22005400-22007000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:22005400-22007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr22:22005400-22007400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr22:22005400-22007400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr22:22005400-22007600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:22005400-22007600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:22005400-22007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:22005600-22006800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr22:22005600-22006800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr22:22005600-22007000	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr22:22005600-22007000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:22005600-22007000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr22:22005600-22007000	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr22:22005600-22007000	Transcr. at gene 5' and 3'	Right Atrium	heart
21	chr22:22005600-22007000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr22:22005600-22007400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:22005600-22007400	Active TSS	A549	lung
24	chr22:22005600-22007600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr22:22005600-22007600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr22:22005600-22007600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:22005600-22007600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr22:22005600-22007800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:22005600-22007800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr22:22005800-22007000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:22005800-22007000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr22:22005800-22007000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr22:22005800-22007000	Active TSS	Fetal Lung	lung
34	chr22:22005800-22007000	Active TSS	Small Intestine	intestine
35	chr22:22005800-22007000	Active TSS	HSMM	muscle
36	chr22:22005800-22007000	Active TSS	HSMMtube	muscle
37	chr22:22005800-22007200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr22:22005800-22007200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr22:22005800-22007200	Active TSS	HepG2	liver
40	chr22:22005800-22007400	Active TSS	Fetal Kidney	kidney
41	chr22:22005800-22007600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr22:22005800-22007600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr22:22005800-22007600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:22005800-22007600	Active TSS	NHDF-Ad	bronchial
45	chr22:22005800-22007800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr22:22006000-22006800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr22:22006000-22006800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:22006000-22006800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr22:22006000-22006800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:22006000-22006800	Active TSS	Fetal Intestine Large	intestine

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