Variant report

Variant	rs372191239
Chromosome Location	chr22:31998249-31998250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 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	NFIC	chr22:31998160-31998813	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr22:31998160-31998743	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr22:31997844-31998957	SK-N-SH	brain:	n/a	n/a
8	YY1	chr22:31998163-31998522	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr22:31997979-31998842	SK-N-SH	brain:	n/a	n/a
10	REST	chr22:31998203-31998690	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr22:31998030-31998973	SK-N-SH	brain:	n/a	n/a
12	FOS	chr22:31998125-31998701	HUVEC	blood vessel:	n/a	n/a
13	PBX3	chr22:31998123-31998916	SK-N-SH	brain:	n/a	n/a
14	TEAD4	chr22:31998101-31998901	SK-N-SH	brain:	n/a	n/a
15	EP300	chr22:31998172-31998765	SK-N-SH_RA	brain:	n/a	n/a
16	JUND	chr22:31998017-31998867	SK-N-SH	brain:	n/a	n/a
17	MAX	chr22:31998100-31998861	SK-N-SH	brain:	n/a	n/a
18	JUND	chr22:31998033-31998940	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr22:31998156-31998655	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr22:31998180-31998803	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr22:31998092-31998802	SK-N-SH	brain:	n/a	n/a
22	EP300	chr22:31997994-31998963	SK-N-SH	brain:	n/a	n/a
23	YY1	chr22:31998069-31998750	SK-N-SH	brain:	n/a	n/a
24	TAF1	chr22:31998176-31998639	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr22:31998091-31998843	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr22:31997956-31998940	SK-N-SH	brain:	n/a	n/a
27	RXRA	chr22:31998124-31998856	SK-N-SH	brain:	n/a	n/a
28	FOSL2	chr22:31998151-31998825	SK-N-SH	brain:	n/a	n/a
29	YY1	chr22:31998093-31998477	SK-N-SH_RA	brain:	n/a	n/a
30	SIN3AK20	chr22:31998114-31998748	SK-N-SH	brain:	n/a	n/a
31	EP300	chr22:31998166-31998717	SK-N-SH_RA	brain:	n/a	n/a
32	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: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 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	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
7	chr22:31976200-32014800	Weak transcription	A549	lung
8	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
10	chr22:31982600-31998400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:31983000-31998600	Weak transcription	Colonic Mucosa	Colon
13	chr22:31984400-31998400	Weak transcription	Primary B cells from cord blood	blood
14	chr22:31984400-31998400	Weak transcription	Adipose Nuclei	Adipose
15	chr22:31984400-31998400	Weak transcription	Fetal Lung	lung
16	chr22:31984400-31999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr22:31985600-31998400	Weak transcription	Brain Anterior Caudate	brain
18	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:31985800-31998400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:31985800-31998400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:31985800-31998600	Weak transcription	Brain Substantia Nigra	brain
22	chr22:31985800-31999400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:31985800-32006600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:31985800-32010400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31986000-31998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:31986200-31998400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:31991800-31998400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:31993200-32001200	Weak transcription	Stomach Mucosa	stomach
33	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:31995400-32000200	Strong transcription	Fetal Intestine Small	intestine
35	chr22:31995600-31999200	Enhancers	HUVEC	blood vessel
36	chr22:31996000-31999200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:31996000-32008400	Strong transcription	Primary T cells from cord blood	blood
38	chr22:31996200-32010000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr22:31996400-32000800	Enhancers	Placenta	Placenta
40	chr22:31996400-32002800	Strong transcription	Dnd41	blood
41	chr22:31996400-32010800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr22:31996600-31998600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr22:31996600-31999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:31996600-32010600	Strong transcription	Thymus	Thymus
45	chr22:31996600-32011200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr22:31996600-32011800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:31996600-32012200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:31996800-32002600	Strong transcription	GM12878-XiMat	blood

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