Variant report

Variant	rs5998185
Chromosome Location	chr22:32339365-32339366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr22:32339349-32339374	K562	blood:	n/a	n/a
2	JUN	chr22:32339322-32340806	K562	blood:	n/a	chr22:32340351-32340360 chr22:32340021-32340030 chr22:32340350-32340363
3	RAD21	chr22:32338914-32343861	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr22:32339322-32342820	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32148473..32152307-chr22:32339145..32342092,6	K562	blood:
2	chr22:32291933..32294200-chr22:32339329..32341554,2	MCF-7	breast:
3	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
4	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
5	22:31829733-31836635..22:32338420-32342898	K562	blood:
6	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
7	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
8	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
9	chr22:31891953..31894092-chr22:32338116..32340290,2	MCF-7	breast:
10	chr22:32333714..32338666-chr22:32338808..32341895,4	MCF-7	breast:
11	chr22:32148601..32151339-chr22:32339160..32341973,3	MCF-7	breast:
12	22:31936958-31958600..22:32338420-32342898	K562	blood:
13	chr22:32057033..32060064-chr22:32338919..32341534,3	MCF-7	breast:
14	chr22:32147800..32152307-chr22:32338859..32342135,7	K562	blood:
15	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
16	chr22:32143477..32146279-chr22:32338429..32340320,2	MCF-7	breast:
17	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
18	22:32150875-32154575..22:32338420-32342898	K562	blood:

No data

Variant related genes	Relation type
C22orf24	TF binding region
YWHAH	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184708	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]
rs5998187	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32304400-32339600	Weak transcription	Brain Germinal Matrix	brain
2	chr22:32326000-32339600	Weak transcription	Fetal Lung	lung
3	chr22:32329200-32339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:32330400-32339400	Weak transcription	Pancreas	Pancrea
5	chr22:32331200-32339600	Weak transcription	Brain Substantia Nigra	brain
6	chr22:32332200-32339600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:32332400-32339400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:32332400-32339600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:32332600-32339400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:32332800-32339400	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:32332800-32339400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:32332800-32339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:32333000-32339600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:32333400-32339600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:32334000-32339400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:32334200-32339400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr22:32334200-32339400	Weak transcription	Fetal Heart	heart
18	chr22:32334600-32339400	Weak transcription	Fetal Muscle Leg	muscle
19	chr22:32334800-32339400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:32334800-32339400	Weak transcription	Fetal Brain Female	brain
21	chr22:32335600-32339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:32335600-32339400	Weak transcription	Fetal Brain Male	brain
23	chr22:32335600-32339600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:32335600-32339600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr22:32336000-32339400	Weak transcription	Spleen	Spleen
26	chr22:32336200-32339400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:32336200-32339600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:32336800-32339600	Enhancers	K562	blood
29	chr22:32337000-32339600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:32338200-32339400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr22:32338200-32339600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr22:32338400-32339400	Enhancers	A549	lung
33	chr22:32338400-32339600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:32338400-32339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:32338600-32339400	Enhancers	Primary hematopoietic stem cells	blood
36	chr22:32338600-32339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:32338800-32339400	Enhancers	Osteobl	bone
38	chr22:32338800-32339600	Enhancers	Fetal Thymus	thymus
39	chr22:32338800-32339600	Enhancers	HepG2	liver
40	chr22:32338800-32339800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr22:32338800-32340000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr22:32339000-32339600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:32339000-32339600	Enhancers	Stomach Mucosa	stomach
44	chr22:32339200-32339400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr22:32339200-32339400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr22:32339200-32339400	Enhancers	Hela-S3	cervix
47	chr22:32339200-32339600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:32339200-32339600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:32339200-32339600	Enhancers	Primary B cells from cord blood	blood
50	chr22:32339200-32339600	Enhancers	Primary B cells from peripheral blood	blood

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