Variant report

Variant	rs2073858
Chromosome Location	chr22:31607834-31607835
allele	C/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	chr22:31607795-31608543	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr22:31607738-31608621	GM12878	blood:	n/a	n/a
3	BCLAF1	chr22:31607826-31608516	GM12878	blood:	n/a	chr22:31608183-31608196 chr22:31608119-31608132 chr22:31608143-31608156
4	MYBL2	chr22:31607525-31608524	HepG2	liver:	n/a	n/a
5	MAZ	chr22:31607817-31608764	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:31607822-31608554	HCT-116	colon:	n/a	n/a
7	SP4	chr22:31607819-31608300	H1-hESC	embryonic stem cell:	n/a	chr22:31608142-31608158 chr22:31608144-31608160 chr22:31608146-31608157
8	ZNF143	chr22:31607819-31608437	H1-hESC	embryonic stem cell:	n/a	chr22:31608047-31608057
9	ZMIZ1	chr22:31607783-31608495	K562	blood:	n/a	n/a
10	GABPA	chr22:31607727-31608365	HL-60	blood:	n/a	chr22:31608147-31608156
11	RAD21	chr22:31607807-31608516	H1-hESC	embryonic stem cell:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
12	REST	chr22:31607686-31608705	H1-neurons	neurons:	n/a	chr22:31608562-31608569
13	RAD21	chr22:31607795-31608750	ECC-1	luminal epithelium:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
14	POLR2A	chr22:31607808-31608595	GM12891	blood:	n/a	n/a
15	RAD21	chr22:31607827-31608307	A549	lung:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
16	MTA3	chr22:31607690-31608700	GM12878	blood:	n/a	n/a
17	RAD21	chr22:31607830-31608339	SK-N-SH_RA	brain:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
18	CTCF	chr22:31607727-31608407	HCT-116	colon:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
19	POLR2A	chr22:31607829-31608606	GM19099	blood:	n/a	n/a
20	TBP	chr22:31607794-31608414	GM12878	blood:	n/a	n/a
21	POLR2A	chr22:31607745-31608800	GM12892	blood:	n/a	n/a
22	STAT5A	chr22:31607710-31609003	GM12878	blood:	n/a	n/a
23	WRNIP1	chr22:31607741-31608049	GM12878	blood:	n/a	n/a
24	MYC	chr22:31607724-31608605	K562	blood:	n/a	n/a
25	GABPA	chr22:31607759-31608353	MCF-7	breast:	n/a	chr22:31608147-31608156
26	CTCF	chr22:31607640-31608785	SK-N-SH	brain:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
27	FOXM1	chr22:31607768-31608476	GM12878	blood:	n/a	n/a
28	MAX	chr22:31607796-31608677	A549	lung:	n/a	n/a
29	RCOR1	chr22:31607759-31608607	GM12878	blood:	n/a	n/a
30	RAD21	chr22:31607531-31608980	SK-N-SH	brain:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
31	PML	chr22:31607684-31608690	GM12878	blood:	n/a	chr22:31607775-31607783
32	FOXM1	chr22:31607831-31608325	GM12878	blood:	n/a	n/a
33	KAP1	chr22:31607653-31608408	U2OS	brain:	n/a	chr22:31607775-31607783
34	POLR2A	chr22:31607810-31608518	GM12878	blood:	n/a	n/a
35	RAD21	chr22:31607802-31608571	HCT-116	colon:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
36	ARID3A	chr22:31607814-31608387	HepG2	liver:	n/a	n/a
37	BCLAF1	chr22:31607787-31608500	GM12878	blood:	n/a	chr22:31608183-31608196 chr22:31608119-31608132 chr22:31608143-31608156
38	POLR2A	chr22:31607828-31608536	GM12878	blood:	n/a	n/a
39	SIN3AK20	chr22:31607685-31608723	MCF-7	breast:	n/a	n/a
40	CTCF	chr22:31607811-31608397	MCF-7	breast:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
41	POLR2A	chr22:31607791-31609292	GM12891	blood:	n/a	n/a
42	MAZ	chr22:31607545-31608791	IMR90	lung:	n/a	n/a
43	ELK1	chr22:31607830-31608574	GM12878	blood:	n/a	n/a
44	GABPA	chr22:31607830-31608180	K562	blood:	n/a	chr22:31608147-31608156
45	CBX3	chr22:31607757-31608279	K562	blood:	n/a	n/a
46	YY1	chr22:31607820-31608292	K562	blood:	n/a	chr22:31608144-31608158 chr22:31608147-31608156
47	PAX5	chr22:31607804-31608503	GM12878	blood:	n/a	chr22:31608140-31608159
48	POLR2A	chr22:31606669-31609617	HUVEC	blood vessel:	n/a	n/a
49	HCFC1	chr22:31607793-31609061	Hela-S3	cervix:	n/a	n/a
50	ZNF263	chr22:31607372-31608858	HEK293-T-REx	kidney:	n/a	chr22:31608680-31608689

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
2	chr22:31607254..31610426-chr22:31643805..31645899,3	MCF-7	breast:

Variant related genes	Relation type
LIMK2	TF binding region
ENSG00000213888	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1034587	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10428007	0.89[ASN][1000 genomes]
rs11089491	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12106582	0.82[ASN][1000 genomes]
rs12627941	0.84[ASN][1000 genomes]
rs12628752	0.93[ASN][1000 genomes]
rs17220369	0.89[ASN][1000 genomes]
rs2239905	0.88[ASN][1000 genomes]
rs2239906	0.87[ASN][1000 genomes]
rs2267169	0.83[ASN][1000 genomes]
rs2267170	0.83[ASN][1000 genomes]
rs2267171	0.89[ASN][1000 genomes]
rs2283878	0.89[ASN][1000 genomes]
rs2283880	0.85[ASN][1000 genomes]
rs2413041	0.93[ASN][1000 genomes]
rs28709894	0.81[ASN][1000 genomes]
rs34184692	0.94[ASN][1000 genomes]
rs4561750	0.81[ASN][1000 genomes]
rs4615	0.84[ASN][1000 genomes]
rs4820949	0.81[ASN][1000 genomes]
rs4820952	0.86[ASN][1000 genomes]
rs4820965	0.84[ASN][1000 genomes]
rs55737363	0.81[ASN][1000 genomes]
rs55900008	0.92[ASN][1000 genomes]
rs5749226	0.81[ASN][1000 genomes]
rs5749231	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5749232	0.94[ASN][1000 genomes]
rs5749237	0.89[ASN][1000 genomes]
rs5749244	0.89[ASN][1000 genomes]
rs5753518	0.89[ASN][1000 genomes]
rs5753528	0.89[ASN][1000 genomes]
rs5753531	0.83[ASN][1000 genomes]
rs5753550	0.86[ASN][1000 genomes]
rs5753551	0.86[ASN][1000 genomes]
rs5753560	0.84[ASN][1000 genomes]
rs5997940	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61006749	0.93[ASN][1000 genomes]
rs62237396	0.81[ASN][1000 genomes]
rs62237398	0.81[ASN][1000 genomes]
rs62237399	0.81[ASN][1000 genomes]
rs62237400	0.81[ASN][1000 genomes]
rs62237404	0.94[ASN][1000 genomes]
rs62237436	0.90[ASN][1000 genomes]
rs68136222	0.89[ASN][1000 genomes]
rs72617294	0.89[ASN][1000 genomes]
rs72617295	0.85[ASN][1000 genomes]
rs73158522	0.89[ASN][1000 genomes]
rs737809	0.89[ASN][1000 genomes]
rs886074	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31604200-31608200	Weak transcription	Fetal Brain Male	brain
3	chr22:31605800-31608200	Enhancers	Lung	lung
4	chr22:31606400-31608000	Genic enhancers	Fetal Intestine Small	intestine
5	chr22:31606400-31608200	Enhancers	Spleen	Spleen
6	chr22:31606800-31608000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr22:31607000-31608000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr22:31607000-31608000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr22:31607000-31608000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr22:31607000-31608000	Enhancers	Small Intestine	intestine
11	chr22:31607000-31608200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:31607000-31608200	Flanking Active TSS	HUVEC	blood vessel
13	chr22:31607200-31608000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr22:31607200-31608000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr22:31607200-31608000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:31607200-31608000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr22:31607200-31608000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr22:31607200-31608000	Flanking Active TSS	HepG2	liver
19	chr22:31607200-31608000	Flanking Active TSS	HSMMtube	muscle
20	chr22:31607200-31608200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:31607400-31608000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:31607400-31608000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr22:31607400-31608000	Flanking Active TSS	Dnd41	blood
24	chr22:31607400-31609400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr22:31607600-31608000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:31607600-31608000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:31607600-31608000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:31607600-31608000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr22:31607600-31608000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:31607600-31608000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr22:31607600-31608000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr22:31607600-31608000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr22:31607600-31608000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:31607600-31608000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:31607600-31608000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:31607600-31608000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:31607600-31608000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:31607600-31608000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr22:31607600-31608000	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr22:31607600-31608000	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr22:31607600-31608000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr22:31607600-31608000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:31607600-31608000	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr22:31607600-31608000	Enhancers	Esophagus	oesophagus
45	chr22:31607600-31608000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr22:31607600-31608000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr22:31607600-31608000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr22:31607600-31608000	Flanking Active TSS	GM12878-XiMat	blood
49	chr22:31607600-31608000	Flanking Active TSS	Hela-S3	cervix
50	chr22:31607600-31608000	Flanking Active TSS	K562	blood

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