Variant report

Variant	rs5998187
Chromosome Location	chr22:32342424-32342425
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:32339474-32343821	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr22:32339500-32342859	K562	blood:	n/a	n/a
3	WRNIP1	chr22:32342130-32342780	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
5	POLR2A	chr22:32342359-32342518	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr22:32339683-32342704	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr22:32342262-32342800	GM12892	blood:	n/a	n/a
8	POLR2A	chr22:32342065-32342683	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:32339427-32342832	K562	blood:	n/a	n/a
10	POLR2A	chr22:32342347-32342631	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr22:32339651-32343721	K562	blood:	n/a	n/a
12	POLR2A	chr22:32341627-32345124	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:32342002-32342566	PFSK-1	brain:	n/a	n/a
14	MAX	chr22:32342023-32342561	K562	blood:	n/a	n/a
15	POLR2A	chr22:32342377-32342484	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr22:32342380-32342519	MCF-7	breast:	n/a	n/a
17	MYC	chr22:32342021-32342625	K562	blood:	n/a	n/a
18	POLR2A	chr22:32341158-32342857	HepG2	liver:	n/a	n/a
19	REST	chr22:32339423-32342896	H1-neurons	neurons:	n/a	chr22:32340395-32340408 chr22:32340642-32340652 chr22:32340411-32340421
20	POLR2A	chr22:32342001-32342664	H1-neurons	neurons:	n/a	n/a
21	RAD21	chr22:32338914-32343861	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr22:32341983-32342780	K562	blood:	n/a	n/a
23	CCNT2	chr22:32342339-32342529	K562	blood:	n/a	n/a
24	POLR2A	chr22:32342325-32342681	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr22:32341677-32342856	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr22:32342043-32342895	HepG2	liver:	n/a	n/a
27	POLR2A	chr22:32341979-32342839	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr22:32339732-32342841	GM12878	blood:	n/a	n/a
29	POLR2A	chr22:32342279-32342647	K562	blood:	n/a	n/a
30	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
31	POLR2A	chr22:32341894-32342750	GM12878	blood:	n/a	n/a
32	IRF1	chr22:32342277-32342886	K562	blood:	n/a	n/a
33	REST	chr22:32342252-32342560	SK-N-SH	brain:	n/a	n/a
34	USF2	chr22:32342115-32342480	Hela-S3	cervix:	n/a	n/a
35	HEY1	chr22:32342298-32342805	K562	blood:	n/a	n/a
36	POLR2A	chr22:32340389-32342751	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr22:32340395-32342870	GM12878	blood:	n/a	n/a
38	POLR2A	chr22:32339418-32342795	K562	blood:	n/a	n/a
39	POLR2A	chr22:32340173-32343627	GM12878	blood:	n/a	n/a
40	POLR2A	chr22:32341962-32342692	GM12892	blood:	n/a	n/a
41	MXI1	chr22:32339460-32342498	IMR90	lung:	n/a	n/a
42	ZNF143	chr22:32342420-32342436	GM12878	blood:	n/a	n/a
43	POLR2A	chr22:32339322-32342820	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
2	chr22:32143401..32146678-chr22:32340513..32343465,3	K562	blood:
3	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
4	22:31829733-31836635..22:32338420-32342898	K562	blood:
5	chr22:32340518..32342759-chr22:32869952..32872764,2	K562	blood:
6	chr22:32213023..32215994-chr22:32340622..32343238,2	MCF-7	breast:
7	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
8	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
9	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
10	chr22:32055976..32060358-chr22:32339389..32343294,9	K562	blood:
11	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
12	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
13	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
14	22:31936958-31958600..22:32338420-32342898	K562	blood:
15	chr22:32056716..32060506-chr22:32341976..32344669,4	MCF-7	breast:
16	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
17	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
18	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
19	22:32150875-32154575..22:32338420-32342898	K562	blood:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12159632	1.00[AFR][1000 genomes]
rs5994428	1.00[AFR][1000 genomes]
rs5998177	1.00[AFR][1000 genomes]
rs5998185	1.00[AFR][1000 genomes]
rs5998205	1.00[AFR][1000 genomes]
rs5998219	1.00[AFR][1000 genomes]
rs5998220	1.00[AFR][1000 genomes]
rs61740445	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32339600-32342600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr22:32339600-32342800	Active TSS	Psoas Muscle	Psoas
3	chr22:32339600-32343200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr22:32339600-32343600	Active TSS	Aorta	Aorta
5	chr22:32339600-32343600	Active TSS	Right Atrium	heart
6	chr22:32339800-32342600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:32339800-32342600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr22:32339800-32343400	Active TSS	Lung	lung
9	chr22:32340000-32342800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:32341200-32342600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:32341200-32342600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr22:32341200-32342800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr22:32341200-32342800	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr22:32341200-32342800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr22:32341400-32342600	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr22:32341400-32342600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
17	chr22:32341400-32342600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr22:32341400-32342600	Flanking Active TSS	Thymus	Thymus
19	chr22:32341400-32342800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:32341400-32342800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:32341400-32342800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr22:32341400-32342800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr22:32341400-32342800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
24	chr22:32341400-32342800	Flanking Active TSS	HUVEC	blood vessel
25	chr22:32341400-32343000	Flanking Active TSS	NH-A	brain
26	chr22:32341400-32343200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:32341400-32343400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
28	chr22:32341400-32343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:32341400-32343600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
30	chr22:32341600-32342600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
31	chr22:32341600-32342600	Transcr. at gene 5' and 3'	HSMM	muscle
32	chr22:32341600-32342600	Flanking Active TSS	HSMMtube	muscle
33	chr22:32341600-32342800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:32341600-32342800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
35	chr22:32341600-32342800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:32341600-32342800	Flanking Active TSS	Fetal Kidney	kidney
37	chr22:32341600-32343200	Transcr. at gene 5' and 3'	HMEC	breast
38	chr22:32341600-32343400	Transcr. at gene 5' and 3'	NHEK	skin
39	chr22:32341600-32343600	Transcr. at gene 5' and 3'	K562	blood
40	chr22:32341600-32346400	Weak transcription	Spleen	Spleen
41	chr22:32341800-32342600	Flanking Active TSS	Fetal Lung	lung
42	chr22:32341800-32342600	Flanking Active TSS	Osteobl	bone
43	chr22:32341800-32342800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr22:32341800-32342800	Flanking Active TSS	Fetal Heart	heart
45	chr22:32341800-32342800	Flanking Active TSS	GM12878-XiMat	blood
46	chr22:32341800-32342800	Flanking Active TSS	Hela-S3	cervix
47	chr22:32341800-32343000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:32341800-32343000	Active TSS	Fetal Brain Male	brain
49	chr22:32341800-32343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr22:32341800-32343200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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