Variant report

Variant	rs73001325
Chromosome Location	chr3:150263239-150263240
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr3:150263186-150265203	K562	blood:	n/a	n/a
2	POLR2A	chr3:150255826-150265588	K562	blood:	n/a	n/a
3	EP300	chr3:150263150-150263482	GM12878	blood:	n/a	n/a
4	RAD21	chr3:150263150-150263778	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:150262889-150265615	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr3:150263075-150265407	IMR90	lung:	n/a	chr3:150263936-150263945
7	CTCF	chr3:150263210-150263444	GM12878	blood:	n/a	n/a
8	CHD1	chr3:150263196-150263711	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr3:150263204-150265337	Hela-S3	cervix:	n/a	chr3:150263942-150263952 chr3:150264268-150264278
10	POLR2A	chr3:150263231-150265361	GM12878	blood:	n/a	n/a
11	CTCF	chr3:150263200-150263350	AG09319	gingival:	n/a	n/a
12	MXI1	chr3:150263217-150263557	K562	blood:	n/a	n/a
13	MAX	chr3:150263189-150265231	MCF-7	breast:	n/a	chr3:150263942-150263952 chr3:150264268-150264278
14	CTCF	chr3:150263220-150263370	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr3:150263220-150263370	HPF	lung:	n/a	n/a
16	TCF7L2	chr3:150263210-150264874	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr3:150263165-150265168	Hela-S3	cervix:	n/a	n/a
18	REST	chr3:150263103-150265500	H1-neurons	neurons:	n/a	chr3:150264061-150264074
19	POLR2A	chr3:150263164-150265194	GM12878	blood:	n/a	n/a
20	CREB1	chr3:150263184-150265044	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:150262735-150263624	MCF10A-Er-Src	breast:	n/a	n/a
22	CREB1	chr3:150263194-150265077	HepG2	liver:	n/a	n/a
23	CHD1	chr3:150263226-150265285	GM12878	blood:	n/a	chr3:150264431-150264438
24	TAF1	chr3:150263177-150263476	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr3:150263239-150263415	MCF-7	breast:	n/a	n/a
26	POLR2A	chr3:150263012-150265871	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr3:150263150-150265075	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr3:150263100-150263390	NHDF-neo	bronchial:	n/a	n/a
29	SMC3	chr3:150263158-150264780	Hela-S3	cervix:	n/a	n/a
30	RUNX3	chr3:150263216-150265250	GM12878	blood:	n/a	n/a
31	TBP	chr3:150263199-150263463	GM12878	blood:	n/a	n/a
32	MXI1	chr3:150263239-150265211	Hela-S3	cervix:	n/a	chr3:150263936-150263945
33	MXI1	chr3:150261672-150265743	SK-N-SH	brain:	n/a	chr3:150263936-150263945
34	POLR2A	chr3:150263173-150265470	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:150263225-150263241	MCF-7	breast:	n/a	n/a
36	RFX5	chr3:150263161-150265534	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr3:150263160-150265405	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:150263209-150263582	K562	blood:	n/a	n/a
39	ZNF263	chr3:150263166-150265008	HEK293-T-REx	kidney:	n/a	n/a
40	RCOR1	chr3:150263232-150265435	Hela-S3	cervix:	n/a	n/a
41	MAZ	chr3:150263142-150265419	IMR90	lung:	n/a	chr3:150263942-150263952 chr3:150264268-150264278
42	POLR2A	chr3:150263205-150265288	GM12892	blood:	n/a	n/a
43	TBP	chr3:150263072-150263495	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr3:150263177-150265016	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr3:150263221-150265609	GM12891	blood:	n/a	n/a
46	POLR2A	chr3:150263204-150263536	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr3:150263206-150266133	IMR90	lung:	n/a	n/a
48	CHD1	chr3:150260657-150265744	IMR90	lung:	n/a	chr3:150264431-150264438
49	ATF2	chr3:150263238-150263692	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr3:150263220-150263370	HCM	heart:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:150261794..150264115-chr3:150447439..150450036,2	K562	blood:
2	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:
3	chr3:150262222..150264859-chr3:150319269..150321349,2	K562	blood:
4	chr3:149969744..149971558-chr3:150261186..150263323,2	MCF-7	breast:
5	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
6	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
7	chr3:150262524..150267011-chr3:150319982..150323189,4	MCF-7	breast:
8	chr3:150261198..150264087-chr5:175882134..175885128,2	MCF-7	breast:
9	chr3:150238430..150241632-chr3:150261440..150264044,3	MCF-7	breast:
10	chr3:150261836..150264039-chr3:150275113..150276621,2	MCF-7	breast:
11	chr3:149955042..149957840-chr3:150262787..150265326,3	MCF-7	breast:
12	chr3:150262494..150264022-chr3:150803208..150805576,2	K562	blood:
13	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
14	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
15	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
16	chr3:150262857..150265948-chr3:150299481..150302314,3	K562	blood:

No data

Variant related genes	Relation type
EIF2A	TF binding region
ENSG00000120742	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000144893	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000244265	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16862718	1.00[EUR][1000 genomes]
rs58823857	1.00[EUR][1000 genomes]
rs6772881	1.00[EUR][1000 genomes]
rs6774750	1.00[EUR][1000 genomes]
rs6794743	1.00[EUR][1000 genomes]
rs73001336	1.00[EUR][1000 genomes]
rs73001339	1.00[EUR][1000 genomes]
rs73001352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001358	1.00[EUR][1000 genomes]
rs73003034	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73003079	1.00[EUR][1000 genomes]
rs935223	1.00[EUR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 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	chr3:150262000-150263400	Transcr. at gene 5' and 3'	K562	blood
2	chr3:150262000-150264000	Active TSS	Right Atrium	heart
3	chr3:150262000-150264400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:150262000-150266000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:150262000-150266200	Active TSS	Psoas Muscle	Psoas
6	chr3:150262200-150263400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:150262200-150263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:150262200-150265000	Active TSS	Brain Angular Gyrus	brain
9	chr3:150262200-150265400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:150262200-150265600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:150262200-150265600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:150262200-150265800	Active TSS	GM12878-XiMat	blood
13	chr3:150262400-150263400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr3:150262400-150263400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:150262400-150263400	Flanking Active TSS	Dnd41	blood
16	chr3:150262400-150263600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr3:150262400-150265000	Active TSS	Brain Anterior Caudate	brain
18	chr3:150262400-150265000	Active TSS	Stomach Smooth Muscle	stomach
19	chr3:150262400-150265600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr3:150262400-150265600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:150262400-150265600	Active TSS	Fetal Intestine Large	intestine
22	chr3:150262400-150265600	Active TSS	HSMMtube	muscle
23	chr3:150262400-150265600	Active TSS	NHLF	lung
24	chr3:150262600-150263400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr3:150262600-150263400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr3:150262600-150263400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:150262600-150263600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr3:150262600-150263600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr3:150262600-150263600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr3:150262600-150263600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr3:150262600-150263800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr3:150262600-150265000	Active TSS	Fetal Intestine Small	intestine
33	chr3:150262600-150265000	Active TSS	Fetal Thymus	thymus
34	chr3:150262600-150265200	Active TSS	Fetal Stomach	stomach
35	chr3:150262600-150265400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr3:150262600-150265400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:150262600-150265400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:150262600-150265400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:150262600-150265400	Active TSS	Colonic Mucosa	Colon
40	chr3:150262600-150265400	Active TSS	Fetal Muscle Leg	muscle
41	chr3:150262600-150265400	Active TSS	Left Ventricle	heart
42	chr3:150262600-150265400	Active TSS	Ovary	ovary
43	chr3:150262600-150265400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr3:150262600-150265400	Active TSS	Stomach Mucosa	stomach
45	chr3:150262600-150265600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:150262600-150265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:150262600-150265600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:150262600-150265600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:150262600-150265600	Active TSS	Right Ventricle	heart
50	chr3:150262600-150265800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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