Variant report

Variant	rs11584613
Chromosome Location	chr1:150296058-150296059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150295912-150296080	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:150295791-150296125	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:150295505-150296116	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
2	chr1:150272515..150274604-chr1:150295107..150297514,2	K562	blood:
3	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
4	chr1:150248711..150251373-chr1:150294056..150296780,2	MCF-7	breast:
5	chr1:150264700..150268461-chr1:150290358..150296338,12	MCF-7	breast:
6	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:
7	chr1:150264496..150269056-chr1:150292330..150296241,7	MCF-7	breast:
8	chr1:150254416..150258326-chr1:150293142..150296194,3	K562	blood:
9	chr1:150294499..150296589-chr1:150311548..150313994,2	MCF-7	breast:
10	chr1:150294036..150296676-chr1:150329031..150330678,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRPF3	TF binding region
ENSG00000163125	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000159208	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1011546	0.83[EUR][1000 genomes]
rs1043293	0.81[EUR][1000 genomes]
rs1050818	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10788874	0.83[EUR][1000 genomes]
rs10888581	0.81[EUR][1000 genomes]
rs10888582	0.83[EUR][1000 genomes]
rs11205366	0.86[EUR][1000 genomes]
rs11205368	0.86[EUR][1000 genomes]
rs11205369	0.83[EUR][1000 genomes]
rs11205376	0.82[EUR][1000 genomes]
rs11205378	0.83[EUR][1000 genomes]
rs11205380	0.83[EUR][1000 genomes]
rs11205381	0.82[EUR][1000 genomes]
rs11205383	0.80[EUR][1000 genomes]
rs11580810	0.86[EUR][1000 genomes]
rs11581051	0.83[EUR][1000 genomes]
rs11582170	0.81[EUR][1000 genomes]
rs11584488	0.87[EUR][1000 genomes]
rs11588184	0.83[EUR][1000 genomes]
rs11588185	0.86[EUR][1000 genomes]
rs11589873	0.84[EUR][1000 genomes]
rs11808242	0.86[EUR][1000 genomes]
rs11811159	0.80[EUR][1000 genomes]
rs11811950	0.80[EUR][1000 genomes]
rs12120775	0.83[EUR][1000 genomes]
rs12120779	0.82[EUR][1000 genomes]
rs12121133	0.83[EUR][1000 genomes]
rs12121966	0.94[EUR][1000 genomes]
rs12123103	0.83[EUR][1000 genomes]
rs12126130	0.83[EUR][1000 genomes]
rs12126240	0.83[EUR][1000 genomes]
rs12126327	0.81[EUR][1000 genomes]
rs12126357	0.83[EUR][1000 genomes]
rs12126958	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12128653	0.90[EUR][1000 genomes]
rs12129491	0.81[EUR][1000 genomes]
rs12130082	0.81[EUR][1000 genomes]
rs12130583	0.87[EUR][1000 genomes]
rs12131083	0.83[EUR][1000 genomes]
rs12131672	0.83[EUR][1000 genomes]
rs12132890	0.81[EUR][1000 genomes]
rs12134306	0.85[EUR][1000 genomes]
rs12136332	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12136802	0.81[EUR][1000 genomes]
rs12137967	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12139286	0.83[AFR][1000 genomes]
rs12139488	0.83[EUR][1000 genomes]
rs12140697	0.84[EUR][1000 genomes]
rs12141218	0.81[EUR][1000 genomes]
rs12142196	0.86[EUR][1000 genomes]
rs12144091	0.86[EUR][1000 genomes]
rs12145082	0.80[EUR][1000 genomes]
rs12145566	0.84[EUR][1000 genomes]
rs12145967	0.86[EUR][1000 genomes]
rs12726415	0.86[EUR][1000 genomes]
rs12731738	0.80[EUR][1000 genomes]
rs12737757	0.80[EUR][1000 genomes]
rs12738490	0.86[EUR][1000 genomes]
rs12739019	0.83[EUR][1000 genomes]
rs12741448	0.86[EUR][1000 genomes]
rs12745446	0.86[EUR][1000 genomes]
rs12757823	0.86[EUR][1000 genomes]
rs1343965	0.80[EUR][1000 genomes]
rs16835780	0.84[AFR][1000 genomes]
rs16836143	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16836230	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16836940	0.82[EUR][1000 genomes]
rs1962480	0.83[EUR][1000 genomes]
rs2173376	0.88[EUR][1000 genomes]
rs34247601	0.86[EUR][1000 genomes]
rs34353365	0.89[EUR][1000 genomes]
rs34391279	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34456572	0.84[EUR][1000 genomes]
rs34906632	0.84[EUR][1000 genomes]
rs34933405	0.83[EUR][1000 genomes]
rs35322831	0.84[EUR][1000 genomes]
rs35591746	0.80[EUR][1000 genomes]
rs36020363	0.81[EUR][1000 genomes]
rs36023386	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36029278	0.84[EUR][1000 genomes]
rs36038795	0.86[EUR][1000 genomes]
rs36122812	0.84[EUR][1000 genomes]
rs3850841	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3862206	0.82[EUR][1000 genomes]
rs41264059	0.80[EUR][1000 genomes]
rs41264139	0.80[EUR][1000 genomes]
rs55816515	0.81[EUR][1000 genomes]
rs56321241	0.86[EUR][1000 genomes]
rs66513313	0.81[EUR][1000 genomes]
rs6670974	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6686690	0.81[EUR][1000 genomes]
rs6686809	0.83[EUR][1000 genomes]
rs6694168	0.83[EUR][1000 genomes]
rs6703798	0.81[EUR][1000 genomes]
rs67566205	0.84[EUR][1000 genomes]
rs67654647	0.84[EUR][1000 genomes]
rs67733549	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67903303	0.81[EUR][1000 genomes]
rs68097764	0.85[EUR][1000 genomes]
rs71622700	0.83[EUR][1000 genomes]
rs72696844	0.92[EUR][1000 genomes]
rs72696853	0.87[EUR][1000 genomes]
rs72698829	0.81[EUR][1000 genomes]
rs72698868	0.80[EUR][1000 genomes]
rs72698870	0.80[EUR][1000 genomes]
rs74127616	0.80[EUR][1000 genomes]
rs7417465	0.81[EUR][1000 genomes]
rs7519691	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7522820	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7542068	0.80[EUR][1000 genomes]
rs7542510	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7552883	0.80[EUR][1000 genomes]
rs9651184	0.86[EUR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150294600-150299200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:150294600-150301200	Weak transcription	Pancreas	Pancrea
3	chr1:150294800-150296800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:150294800-150297400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:150294800-150297400	Weak transcription	Left Ventricle	heart
6	chr1:150294800-150299200	Weak transcription	Aorta	Aorta
7	chr1:150294800-150305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:150295000-150296200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:150295000-150296400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:150295000-150296600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:150295000-150297000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:150295000-150297000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:150295000-150297200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:150295000-150297400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:150295000-150297400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:150295000-150297400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:150295000-150297400	Weak transcription	Colonic Mucosa	Colon
18	chr1:150295000-150297400	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:150295000-150297400	Weak transcription	Lung	lung
20	chr1:150295000-150297400	Weak transcription	Ovary	ovary
21	chr1:150295000-150297400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:150295000-150297400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:150295000-150297400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:150295000-150297400	Weak transcription	Spleen	Spleen
25	chr1:150295000-150297400	Weak transcription	HSMMtube	muscle
26	chr1:150295000-150298000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:150295000-150298000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:150295000-150298200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:150295000-150299200	Weak transcription	Gastric	stomach
30	chr1:150295000-150300400	Weak transcription	Esophagus	oesophagus
31	chr1:150295000-150304800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:150295000-150304800	Weak transcription	Fetal Heart	heart
33	chr1:150295200-150296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:150295200-150296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:150295200-150296600	Weak transcription	Brain Angular Gyrus	brain
36	chr1:150295200-150296600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:150295200-150296800	Weak transcription	Primary T cells from cord blood	blood
38	chr1:150295200-150296800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:150295200-150296800	Enhancers	Brain Germinal Matrix	brain
40	chr1:150295200-150297000	Weak transcription	NHEK	skin
41	chr1:150295200-150297200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:150295200-150297200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:150295200-150297200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:150295200-150297200	Weak transcription	NHDF-Ad	bronchial
45	chr1:150295200-150297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:150295200-150297400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:150295200-150297400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:150295200-150297400	Weak transcription	Fetal Brain Female	brain
49	chr1:150295200-150297400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:150295200-150297400	Weak transcription	Osteobl	bone

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