Variant report

Variant	rs73400252
Chromosome Location	chr22:31998133-31998134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr22:31997993-31998967	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr22:31997988-31998961	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr22:31998024-31998969	SK-N-SH	brain:	n/a	n/a
4	JUND	chr22:31998129-31998951	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr22:31997844-31998957	SK-N-SH	brain:	n/a	n/a
6	EP300	chr22:31997979-31998842	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr22:31998030-31998973	SK-N-SH	brain:	n/a	n/a
8	FOS	chr22:31998125-31998701	HUVEC	blood vessel:	n/a	n/a
9	PBX3	chr22:31998123-31998916	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr22:31998101-31998901	SK-N-SH	brain:	n/a	n/a
11	JUND	chr22:31998017-31998867	SK-N-SH	brain:	n/a	n/a
12	MAX	chr22:31998100-31998861	SK-N-SH	brain:	n/a	n/a
13	JUND	chr22:31998033-31998940	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr22:31998092-31998802	SK-N-SH	brain:	n/a	n/a
15	EP300	chr22:31997994-31998963	SK-N-SH	brain:	n/a	n/a
16	YY1	chr22:31998069-31998750	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr22:31998091-31998843	SK-N-SH	brain:	n/a	n/a
18	TEAD4	chr22:31997956-31998940	SK-N-SH	brain:	n/a	n/a
19	RXRA	chr22:31998124-31998856	SK-N-SH	brain:	n/a	n/a
20	YY1	chr22:31998093-31998477	SK-N-SH_RA	brain:	n/a	n/a
21	SIN3AK20	chr22:31998114-31998748	SK-N-SH	brain:	n/a	n/a
22	MAX	chr22:31998131-31998852	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31996113..31998454-chr22:32024863..32027924,3	MCF-7	breast:
2	chr22:31995326..31999503-chr22:32025440..32027156,3	MCF-7	breast:
3	chr22:31996962..31998661-chr22:32003340..32005978,2	K562	blood:
4	chr22:31996880..31998541-chr22:31999926..32002535,2	K562	blood:
5	chr22:31981120..31983681-chr22:31997559..32000083,2	MCF-7	breast:

No data

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16989329	1.00[AFR][1000 genomes]
rs4602315	1.00[AFR][1000 genomes]
rs57725422	1.00[AFR][1000 genomes]
rs59562831	0.89[AFR][1000 genomes]
rs60783010	1.00[AFR][1000 genomes]
rs61385137	1.00[AFR][1000 genomes]
rs73400211	1.00[AFR][1000 genomes]
rs73400214	1.00[AFR][1000 genomes]
rs73400223	1.00[AFR][1000 genomes]
rs73400227	0.90[AFR][1000 genomes]
rs73400239	0.90[AFR][1000 genomes]
rs73400284	0.90[AFR][1000 genomes]
rs73400287	0.81[AFR][1000 genomes]
rs73402152	1.00[AFR][1000 genomes]
rs73402160	0.81[AFR][1000 genomes]
rs73402170	0.95[AFR][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	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
4	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
7	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
9	chr22:31976200-32014800	Weak transcription	A549	lung
10	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
12	chr22:31982400-31998200	Weak transcription	Gastric	stomach
13	chr22:31982600-31998400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr22:31982800-31998200	Weak transcription	NHLF	lung
16	chr22:31983000-31998600	Weak transcription	Colonic Mucosa	Colon
17	chr22:31984400-31998200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:31984400-31998400	Weak transcription	Primary B cells from cord blood	blood
19	chr22:31984400-31998400	Weak transcription	Adipose Nuclei	Adipose
20	chr22:31984400-31998400	Weak transcription	Fetal Lung	lung
21	chr22:31984400-31999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:31984600-31998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:31984600-31998200	Weak transcription	Ovary	ovary
24	chr22:31985200-31998200	Weak transcription	Fetal Brain Female	brain
25	chr22:31985600-31998400	Weak transcription	Brain Anterior Caudate	brain
26	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:31985800-31998200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31985800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:31985800-31998200	Weak transcription	Liver	Liver
30	chr22:31985800-31998200	Weak transcription	Esophagus	oesophagus
31	chr22:31985800-31998200	Weak transcription	Left Ventricle	heart
32	chr22:31985800-31998200	Weak transcription	Lung	lung
33	chr22:31985800-31998200	Weak transcription	Pancreas	Pancrea
34	chr22:31985800-31998200	Weak transcription	Right Ventricle	heart
35	chr22:31985800-31998400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:31985800-31998400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:31985800-31998600	Weak transcription	Brain Substantia Nigra	brain
38	chr22:31985800-31999400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr22:31985800-32006600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:31985800-32010400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:31986000-31998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:31986200-31998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:31986200-31998200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:31986200-31998400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr22:31990200-31998200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:31990200-31998200	Weak transcription	HSMM	muscle
50	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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