Variant report

Variant	rs73863358
Chromosome Location	chr3:101292218-101292219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:101291996-101293654	SK-N-SH	brain:	n/a	chr3:101292581-101292597
2	CTCF	chr3:101292180-101292330	HPF	lung:	n/a	n/a
3	POLR2A	chr3:101292210-101294038	A549	lung:	n/a	n/a
4	POLR2A	chr3:101292215-101294005	HUVEC	blood vessel:	n/a	n/a
5	NFATC1	chr3:101292206-101293131	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:101292177-101293909	HUVEC	blood vessel:	n/a	n/a
7	HEY1	chr3:101292194-101293587	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:101291764-101294002	HepG2	liver:	n/a	n/a
9	REST	chr3:101292166-101294104	H1-neurons	neurons:	n/a	n/a
10	CTCF	chr3:101291656-101293279	A549	lung:	n/a	chr3:101292581-101292597
11	SRF	chr3:101292132-101293471	HCT-116	colon:	n/a	n/a
12	WRNIP1	chr3:101292195-101294066	GM12878	blood:	n/a	n/a
13	POLR2A	chr3:101292114-101293964	K562	blood:	n/a	n/a
14	MTA3	chr3:101292022-101294144	GM12878	blood:	n/a	n/a
15	MBD4	chr3:101292191-101293209	HepG2	liver:	n/a	n/a
16	GABPA	chr3:101292144-101293355	SK-N-SH	brain:	n/a	chr3:101292917-101292924
17	POLR2A	chr3:101292182-101294081	K562	blood:	n/a	n/a
18	GABPA	chr3:101292190-101293799	MCF-7	breast:	n/a	chr3:101292917-101292924
19	CHD1	chr3:101292038-101294317	IMR90	lung:	n/a	n/a
20	POLR2A	chr3:101291963-101294204	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF1	chr3:101292194-101293134	K562	blood:	n/a	n/a
22	SRF	chr3:101292178-101293336	MCF-7	breast:	n/a	n/a
23	MAX	chr3:101292119-101294037	HCT-116	colon:	n/a	chr3:101294017-101294024
24	POLR2A	chr3:101292140-101293490	HCT-116	colon:	n/a	n/a
25	BHLHE40	chr3:101292164-101293395	HepG2	liver:	n/a	n/a
26	POLR2A	chr3:101292211-101293990	HepG2	liver:	n/a	n/a
27	POLR2A	chr3:101292091-101294266	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr3:101292166-101293952	HepG2	liver:	n/a	n/a
29	POLR2A	chr3:101291924-101293722	K562	blood:	n/a	n/a
30	SMC3	chr3:101292070-101294011	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr3:101292212-101294014	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:101292145-101293299	U87	brain:	n/a	n/a
33	CTCF	chr3:101292080-101292230	GM12873	blood:	n/a	n/a
34	POLR2A	chr3:101292145-101293312	U87	brain:	n/a	n/a
35	POLR2A	chr3:101292099-101294088	GM12878	blood:	n/a	n/a
36	MXI1	chr3:101291618-101294453	SK-N-SH	brain:	n/a	chr3:101294181-101294196 chr3:101293538-101293553
37	POLR2A	chr3:101292214-101294000	GM12878	blood:	n/a	n/a
38	MAFK	chr3:101291966-101293411	Hela-S3	cervix:	n/a	chr3:101292834-101292854
39	CTCF	chr3:101292160-101292310	WI-38	lung:	n/a	n/a
40	MXI1	chr3:101292039-101294340	IMR90	lung:	n/a	chr3:101294181-101294196 chr3:101293538-101293553
41	POLR2A	chr3:101292177-101293912	NB4	blood:	n/a	n/a
42	NFIC	chr3:101292190-101293255	HepG2	liver:	n/a	n/a
43	MAZ	chr3:101292082-101294218	IMR90	lung:	n/a	chr3:101294017-101294024
44	POLR2A	chr3:101292023-101294064	HUVEC	blood vessel:	n/a	n/a
45	MYC	chr3:101292208-101294198	MCF10A-Er-Src	breast:	n/a	chr3:101294017-101294024
46	POLR2A	chr3:101292195-101294069	GM12892	blood:	n/a	n/a
47	POLR2A	chr3:101291664-101294093	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr3:101292208-101293954	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr3:101292159-101293867	K562	blood:	n/a	n/a
50	CTCF	chr3:101292160-101292310	GM12874	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101235055..101237948-chr3:101291499..101293284,2	MCF-7	breast:
2	chr3:101230224..101236227-chr3:101287209..101294479,8	K562	blood:
3	chr3:101230669..101232356-chr3:101291492..101293831,2	K562	blood:
4	chr3:101289369..101294999-chr3:101391357..101396813,8	K562	blood:
5	chr1:207495365..207495907-chr3:101291876..101292614,2	Hela-S3	cervix:
6	chr3:101291696..101294315-chr3:101429379..101432021,3	K562	blood:
7	chr3:101291104..101295547-chr3:101393750..101397705,12	MCF-7	breast:
8	chr3:101289588..101293101-chr3:101394155..101396875,5	MCF-7	breast:
9	chr3:101230038..101233245-chr3:101289410..101293829,6	MCF-7	breast:
10	chr3:101231111..101234614-chr3:101289997..101293015,3	MCF-7	breast:
11	chr3:101291780..101294720-chr3:101394004..101396565,4	K562	blood:
12	chr3:101212560..101214999-chr3:101290197..101292554,2	K562	blood:
13	chr3:101291801..101292869-chr3:101354955..101356014,3	MCF-7	breast:
14	chr3:101290641..101295184-chr3:101404268..101406806,5	MCF-7	breast:
15	chr3:101291201..101295304-chr3:101402286..101407928,8	MCF-7	breast:
16	chr3:101240327..101242182-chr3:101291977..101294150,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCNP	TF binding region
ENSG00000244119	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000256628	Chromatin interaction
ENSG00000138468	Chromatin interaction
ENSG00000175841	Chromatin interaction
ENSG00000066422	Chromatin interaction

rs_ID	r²[population]
rs58060577	1.00[EUR][1000 genomes]
rs58189156	1.00[EUR][1000 genomes]
rs58823770	1.00[EUR][1000 genomes]
rs59790563	1.00[EUR][1000 genomes]
rs60574960	1.00[EUR][1000 genomes]
rs61050107	1.00[EUR][1000 genomes]
rs6790519	1.00[EUR][1000 genomes]
rs6795215	1.00[EUR][1000 genomes]
rs72948055	1.00[EUR][1000 genomes]
rs72948070	1.00[EUR][1000 genomes]
rs73863128	1.00[EUR][1000 genomes]
rs73863338	1.00[EUR][1000 genomes]
rs73863341	1.00[EUR][1000 genomes]
rs73863355	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7611807	1.00[EUR][1000 genomes]
rs7611997	1.00[EUR][1000 genomes]
rs7644274	1.00[EUR][1000 genomes]
rs7648183	1.00[EUR][1000 genomes]
rs9840325	1.00[EUR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101281400-101292600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:101282200-101292600	Weak transcription	Aorta	Aorta
3	chr3:101282400-101292400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:101282400-101292600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:101282400-101292600	Weak transcription	Spleen	Spleen
6	chr3:101283000-101292600	Weak transcription	Gastric	stomach
7	chr3:101285000-101292400	Weak transcription	Ovary	ovary
8	chr3:101285600-101292600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:101286400-101292600	Weak transcription	Lung	lung
10	chr3:101286600-101292400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:101289000-101292400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:101290400-101292600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:101291400-101294800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:101291600-101292400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:101291600-101292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:101291600-101295000	Active TSS	K562	blood
17	chr3:101291800-101292400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:101291800-101292400	Flanking Active TSS	Fetal Heart	heart
19	chr3:101291800-101292400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr3:101291800-101292400	Flanking Active TSS	GM12878-XiMat	blood
21	chr3:101291800-101292600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:101291800-101292600	Flanking Active TSS	Fetal Kidney	kidney
23	chr3:101291800-101292600	Flanking Active TSS	Dnd41	blood
24	chr3:101292000-101292400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr3:101292000-101292400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:101292000-101292400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:101292000-101292400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr3:101292000-101292400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr3:101292000-101292400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr3:101292000-101292400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr3:101292000-101292400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:101292000-101292400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:101292000-101292400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr3:101292000-101292400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr3:101292000-101292400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:101292000-101292400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:101292000-101292400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:101292000-101292400	Flanking Active TSS	Fetal Lung	lung
39	chr3:101292000-101292400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr3:101292000-101292400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr3:101292000-101292400	Flanking Active TSS	Thymus	Thymus
42	chr3:101292000-101292400	Flanking Active TSS	HSMMtube	muscle
43	chr3:101292000-101292600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr3:101292000-101292600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:101292000-101292600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr3:101292000-101292600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr3:101292000-101292600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr3:101292000-101292600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr3:101292000-101292600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr3:101292000-101292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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