Variant report

Variant	rs74124607
Chromosome Location	chr1:150293336-150293337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150293315-150293637	HUVEC	blood vessel:	n/a	n/a
2	JUN	chr1:150293077-150294782	K562	blood:	n/a	n/a
3	POLR2A	chr1:150293258-150294455	GM12891	blood:	n/a	n/a
4	HCFC1	chr1:150293139-150295590	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:150293130-150294889	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:150293289-150294603	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:150293226-150293336	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:150293092-150293563	HUVEC	blood vessel:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150207682..150210552-chr1:150291812..150294121,3	K562	blood:
2	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
3	chr1:150292363..150295488-chr1:150335350..150339295,4	K562	blood:
4	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
5	chr1:150206959..150209855-chr1:150291649..150295634,4	MCF-7	breast:
6	chr1:149869289..149872659-chr1:150292468..150294685,3	MCF-7	breast:
7	chr1:150264700..150268461-chr1:150290358..150296338,12	MCF-7	breast:
8	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:
9	chr1:150264361..150267747-chr1:150292578..150295568,3	K562	blood:
10	chr1:149857707..149859573-chr1:150292881..150294813,2	MCF-7	breast:
11	chr1:150253619..150256471-chr1:150290811..150295516,7	MCF-7	breast:
12	chr1:150207085..150210384-chr1:150292615..150294360,3	K562	blood:
13	chr1:150264496..150269056-chr1:150292330..150296241,7	MCF-7	breast:
14	chr1:145504895..145507513-chr1:150292334..150294058,2	MCF-7	breast:
15	chr1:150265031..150267516-chr1:150292699..150295000,3	K562	blood:
16	chr1:150254416..150258326-chr1:150293142..150296194,3	K562	blood:
17	chr1:150293284..150294167-chr7:123388696..123389426,2	Hela-S3	cervix:
18	chr1:150252171..150257673-chr1:150291650..150295636,15	MCF-7	breast:
19	chr1:150292681..150294454-chr19:1247452..1249976,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRPF3	TF binding region
ENSG00000106299	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000234222	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000272686	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000187145	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56991218	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57793626	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61296808	0.84[AFR][1000 genomes]
rs74124402	0.84[AFR][1000 genomes]
rs74124619	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126627	0.84[AFR][1000 genomes]
rs74127650	1.00[AMR][1000 genomes]
rs74127651	1.00[AMR][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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150278800-150293400	Weak transcription	NHDF-Ad	bronchial
2	chr1:150280800-150293400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:150281400-150293400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:150281600-150293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:150282800-150293400	Weak transcription	Fetal Brain Female	brain
6	chr1:150282800-150293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:150292200-150293400	Enhancers	HSMMtube	muscle
8	chr1:150293000-150293400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:150293200-150293400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr1:150293200-150293400	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr1:150293200-150293400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:150293200-150293400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:150293200-150293400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr1:150293200-150293400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:150293200-150293400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:150293200-150293400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:150293200-150293400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:150293200-150293400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:150293200-150293400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr1:150293200-150293400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:150293200-150293400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:150293200-150293400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:150293200-150293400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:150293200-150293400	Flanking Active TSS	Liver	Liver
25	chr1:150293200-150293400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:150293200-150293400	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr1:150293200-150293400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr1:150293200-150293400	Enhancers	Fetal Muscle Leg	muscle
29	chr1:150293200-150293400	Flanking Active TSS	Placenta	Placenta
30	chr1:150293200-150293400	Flanking Active TSS	Fetal Thymus	thymus
31	chr1:150293200-150293400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr1:150293200-150293400	Enhancers	Stomach Mucosa	stomach
33	chr1:150293200-150293400	Flanking Active TSS	GM12878-XiMat	blood
34	chr1:150293200-150293400	Flanking Active TSS	Hela-S3	cervix
35	chr1:150293200-150293400	Flanking Active TSS	HepG2	liver
36	chr1:150293200-150293400	Flanking Active TSS	HMEC	breast
37	chr1:150293200-150293400	Flanking Active TSS	HUVEC	blood vessel
38	chr1:150293200-150293400	Flanking Active TSS	K562	blood
39	chr1:150293200-150293600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:150293200-150293600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr1:150293200-150293600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr1:150293200-150293600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:150293200-150293600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:150293200-150293600	Flanking Active TSS	Thymus	Thymus
45	chr1:150293200-150293600	Enhancers	Spleen	Spleen
46	chr1:150293200-150293600	Flanking Active TSS	Dnd41	blood
47	chr1:150293200-150293600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:150293200-150293800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:150293200-150294000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:150293200-150294200	Active TSS	Primary B cells from cord blood	blood

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