Variant report

Variant	rs56864958
Chromosome Location	chr22:32341479-32341480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:61)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32339741-32341730	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr22:32339474-32343821	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr22:32339679-32342128	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:32339465-32342192	Hela-S3	cervix:	n/a	n/a
5	EGR1	chr22:32341179-32341492	K562	blood:	n/a	chr22:32341393-32341407 chr22:32341317-32341331
6	POLR2A	chr22:32339598-32341842	HL-60	blood:	n/a	n/a
7	POLR2A	chr22:32339500-32342859	K562	blood:	n/a	n/a
8	POLR2A	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
9	ELK1	chr22:32341478-32341830	GM12878	blood:	n/a	n/a
10	JUND	chr22:32341241-32341512	K562	blood:	n/a	n/a
11	MAZ	chr22:32339708-32341592	K562	blood:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
12	MAX	chr22:32339607-32341782	Hela-S3	cervix:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
13	POLR2A	chr22:32339690-32341711	GM15510	blood:	n/a	n/a
14	POLR2A	chr22:32339683-32342704	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr22:32339453-32341900	K562	blood:	n/a	n/a
16	POLR2A	chr22:32339633-32341491	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr22:32339641-32341962	H1-neurons	neurons:	n/a	n/a
18	CHD1	chr22:32341164-32342085	H1-hESC	embryonic stem cell:	n/a	n/a
19	HDAC2	chr22:32341293-32341509	K562	blood:	n/a	n/a
20	BHLHE40	chr22:32341194-32341739	GM12878	blood:	n/a	n/a
21	MAX	chr22:32341387-32341658	K562	blood:	n/a	n/a
22	POLR2A	chr22:32339552-32341882	HepG2	liver:	n/a	n/a
23	POLR2A	chr22:32339427-32342832	K562	blood:	n/a	n/a
24	CHD2	chr22:32341208-32341560	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr22:32339399-32341520	K562	blood:	n/a	n/a
26	BHLHE40	chr22:32341358-32341658	HepG2	liver:	n/a	n/a
27	EGR1	chr22:32341236-32341485	GM12878	blood:	n/a	chr22:32341393-32341407 chr22:32341317-32341331
28	POLR2A	chr22:32339723-32341794	GM19193	blood:	n/a	n/a
29	MAZ	chr22:32339487-32342007	IMR90	lung:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
30	ZBTB7A	chr22:32340832-32341658	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr22:32341088-32341810	GM12892	blood:	n/a	n/a
32	POLR2A	chr22:32339651-32343721	K562	blood:	n/a	n/a
33	POLR2A	chr22:32339736-32341687	GM12878	blood:	n/a	n/a
34	UBTF	chr22:32339906-32341519	K562	blood:	n/a	n/a
35	HEY1	chr22:32341161-32341603	K562	blood:	n/a	n/a
36	POLR2A	chr22:32339495-32341733	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr22:32341357-32341694	MCF-7	breast:	n/a	n/a
38	SIN3A	chr22:32339728-32341703	H1-hESC	embryonic stem cell:	n/a	chr22:32340042-32340053
39	RUNX3	chr22:32341365-32341883	GM12878	blood:	n/a	n/a
40	CTCF	chr22:32341133-32341488	K562	blood:	n/a	n/a
41	MXI1	chr22:32339732-32341832	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr22:32339674-32341695	HUVEC	blood vessel:	n/a	n/a
43	SIN3AK20	chr22:32341240-32341677	K562	blood:	n/a	n/a
44	POLR2A	chr22:32339575-32341612	GM12892	blood:	n/a	n/a
45	MYC	chr22:32339765-32341640	K562	blood:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
46	POLR2A	chr22:32341158-32342857	HepG2	liver:	n/a	n/a
47	REST	chr22:32339423-32342896	H1-neurons	neurons:	n/a	chr22:32340395-32340408 chr22:32340642-32340652 chr22:32340411-32340421
48	MXI1	chr22:32341199-32341624	K562	blood:	n/a	n/a
49	MAX	chr22:32339629-32341707	NB4	blood:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
50	HCFC1	chr22:32339566-32341595	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32341446-32341496	HCT-116	colon:	n/a
2	chr22:32341446-32341496	AG04450	lung:	fetal
3	chr22:32341446-32341496	AG09319	gingival:	n/a
4	chr22:32341446-32341496	HL-60	blood:	n/a
5	chr22:32341446-32341496	ProgFib	skin:	n/a
6	chr22:32341446-32341496	BJ	skin:	n/a
7	chr22:32341446-32341496	AG04449	skin:	fetal
8	chr22:32341446-32341496	HEK293	kidney:	embryo
9	chr22:32341446-32341496	AG10803	skin:	n/a
10	chr22:32341446-32341496	HCPEpiC	choroid plexus:	n/a
11	chr22:32341446-32341496	Hepatocyte	liver:	n/a
12	chr22:32341446-32341496	CMK	blood:	n/a
13	chr22:32341446-32341496	GM12892	blood:	n/a
14	chr22:32341446-32341496	SK-N-SH	brain:	n/a
15	chr22:32341446-32341496	HMEC	breast:	n/a
16	chr22:32341446-32341496	GM06990	blood:	n/a
17	chr22:32341446-32341496	PANC-1	pancreas:	n/a
18	chr22:32341446-32341496	GM19239	blood:	n/a
19	chr22:32341446-32341496	U87	brain:	n/a
20	chr22:32341446-32341496	NHBE	bronchial:	n/a
21	chr22:32341446-32341496	ECC-1	luminal epithelium:	n/a
22	chr22:32341446-32341496	NB4	blood:	n/a
23	chr22:32341446-32341496	K562	blood:	n/a
24	chr22:32341446-32341496	LNCaP	prostate:	n/a
25	chr22:32341446-32341496	Jurkat	blood:	n/a
26	chr22:32341446-32341496	NH-A	brain:	n/a
27	chr22:32341446-32341496	HEEpiC	esophagus:	n/a
28	chr22:32341446-32341496	Hela-S3	cervix:	n/a
29	chr22:32341446-32341496	HPAEpiC	pulmonary alveolar:	n/a
30	chr22:32341446-32341496	MCF-7	breast:	n/a
31	chr22:32341446-32341496	HRE	kidney:	n/a
32	chr22:32341446-32341496	T-47D	breast:	n/a
33	chr22:32341446-32341496	BE2_C	brain:	n/a
34	chr22:32341446-32341496	NT2-D1	testis:	n/a
35	chr22:32341446-32341496	A549	lung:	n/a
36	chr22:32341446-32341496	SAEC	small airway:	n/a
37	chr22:32341446-32341496	GM12878	blood:	n/a
38	chr22:32341446-32341496	HNPCEpiC	eye:	n/a
39	chr22:32341446-32341496	HIPEpiC	eye:	n/a
40	chr22:32341446-32341496	SK-N-SH_RA	brain:	n/a
41	chr22:32341446-32341496	PrEC	prostate:	n/a
42	chr22:32341446-32341496	HCM	heart:	n/a
43	chr22:32341446-32341496	HUVEC	blood vessel:	n/a
44	chr22:32341446-32341496	AG09309	skin:	n/a
45	chr22:32341446-32341496	HepG2	liver:	n/a
46	chr22:32341446-32341496	GM12891	blood:	n/a
47	chr22:32341446-32341496	HCF	heart:	n/a
48	chr22:32341446-32341496	SKMC	muscle:	n/a
49	chr22:32341446-32341496	PFSK-1	brain:	n/a
50	chr22:32341446-32341496	AoSMC	blood vessel:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32148473..32152307-chr22:32339145..32342092,6	K562	blood:
2	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:
3	chr22:32291933..32294200-chr22:32339329..32341554,2	MCF-7	breast:
4	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
5	chr22:32058182..32059714-chr22:32339404..32341859,2	MCF-7	breast:
6	chr22:32143401..32146678-chr22:32340513..32343465,3	K562	blood:
7	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
8	22:31829733-31836635..22:32338420-32342898	K562	blood:
9	chr22:32340518..32342759-chr22:32869952..32872764,2	K562	blood:
10	chr22:32213023..32215994-chr22:32340622..32343238,2	MCF-7	breast:
11	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
12	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
13	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
14	chr22:32055976..32060358-chr22:32339389..32343294,9	K562	blood:
15	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
16	chr22:32287148..32289580-chr22:32339395..32341919,4	K562	blood:
17	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
18	chr22:32333714..32338666-chr22:32338808..32341895,4	MCF-7	breast:
19	chr22:32148601..32151339-chr22:32339160..32341973,3	MCF-7	breast:
20	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
21	22:31936958-31958600..22:32338420-32342898	K562	blood:
22	chr22:32057033..32060064-chr22:32338919..32341534,3	MCF-7	breast:
23	chr22:32147800..32152307-chr22:32338859..32342135,7	K562	blood:
24	chr22:32267945..32270075-chr22:32339613..32341959,2	MCF-7	breast:
25	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
26	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
27	chr22:32149264..32152111-chr22:32339608..32342388,3	MCF-7	breast:
28	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
29	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
30	22:32150875-32154575..22:32338420-32342898	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C22orf24-1	chr22:32341219-32341504	NONHSAT084920

No data

Variant related genes	Relation type
C22orf24	TF binding region
YWHAH	TF binding region
C22orf24	CpG island
YWHAH	CpG island
ENSG00000184708	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000236132	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000230866	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs58334257	1.00[EUR][1000 genomes]
rs58504390	1.00[EUR][1000 genomes]
rs59243243	1.00[EUR][1000 genomes]
rs59662844	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59688361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61088020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287793	1.00[EUR][1000 genomes]
rs7291269	1.00[EUR][1000 genomes]
rs73391043	1.00[EUR][1000 genomes]
rs73391045	1.00[EUR][1000 genomes]
rs73391054	1.00[EUR][1000 genomes]
rs73391057	1.00[EUR][1000 genomes]
rs73391072	1.00[EUR][1000 genomes]
rs73391075	1.00[EUR][1000 genomes]
rs73391078	1.00[EUR][1000 genomes]
rs73391079	1.00[EUR][1000 genomes]
rs73406096	1.00[EUR][1000 genomes]
rs73406102	1.00[EUR][1000 genomes]
rs73407905	1.00[EUR][1000 genomes]
rs73407909	1.00[EUR][1000 genomes]
rs73407924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
2	esv3443461	chr22:32339402-32341825	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr22:32339400-32341600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:32339600-32341600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:32339600-32341600	Active TSS	Fetal Kidney	kidney
4	chr22:32339600-32342000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr22:32339600-32342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:32339600-32342400	Active TSS	Brain Angular Gyrus	brain
7	chr22:32339600-32342600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr22:32339600-32342800	Active TSS	Psoas Muscle	Psoas
9	chr22:32339600-32343200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr22:32339600-32343600	Active TSS	Aorta	Aorta
11	chr22:32339600-32343600	Active TSS	Right Atrium	heart
12	chr22:32339800-32341600	Active TSS	Colon Smooth Muscle	Colon
13	chr22:32339800-32341800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:32339800-32341800	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr22:32339800-32341800	Active TSS	Small Intestine	intestine
16	chr22:32339800-32342000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr22:32339800-32342000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:32339800-32342000	Active TSS	Left Ventricle	heart
19	chr22:32339800-32342200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:32339800-32342200	Active TSS	Ovary	ovary
21	chr22:32339800-32342600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:32339800-32342600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr22:32339800-32343400	Active TSS	Lung	lung
24	chr22:32340000-32341600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr22:32340000-32341600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr22:32340000-32341600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr22:32340000-32341600	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr22:32340000-32341600	Active TSS	Brain Anterior Caudate	brain
29	chr22:32340000-32341600	Active TSS	Brain Cingulate Gyrus	brain
30	chr22:32340000-32341600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr22:32340000-32341600	Active TSS	Fetal Intestine Small	intestine
32	chr22:32340000-32341600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr22:32340000-32341600	Active TSS	HSMM	muscle
34	chr22:32340000-32341600	Active TSS	K562	blood
35	chr22:32340000-32341600	Active TSS	NHEK	skin
36	chr22:32340000-32341600	Active TSS	Osteobl	bone
37	chr22:32340000-32341800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:32340000-32341800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr22:32340000-32341800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:32340000-32341800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:32340000-32341800	Active TSS	Esophagus	oesophagus
42	chr22:32340000-32341800	Active TSS	Rectal Smooth Muscle	rectum
43	chr22:32340000-32341800	Active TSS	GM12878-XiMat	blood
44	chr22:32340000-32341800	Active TSS	Hela-S3	cervix
45	chr22:32340000-32342000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:32340000-32342000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:32340000-32342000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:32340000-32342000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:32340000-32342000	Active TSS	Brain Germinal Matrix	brain
50	chr22:32340000-32342000	Active TSS	Colonic Mucosa	Colon

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