Variant report

Variant	rs35437473
Chromosome Location	chr1:150297233-150297234
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150296963-150297270	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150296995..150298900-chr1:150319856..150322164,2	MCF-7	breast:
2	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
3	chr1:150272515..150274604-chr1:150295107..150297514,2	K562	blood:
4	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
5	chr1:150296747..150298839-chr1:150303335..150306497,3	MCF-7	breast:
6	chr1:150206524..150209622-chr1:150296394..150298865,3	K562	blood:

No data

Variant related genes	Relation type
PRPF3	TF binding region
ENSG00000117360	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11799813	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800656	1.00[ASN][1000 genomes]
rs11801190	1.00[ASN][1000 genomes]
rs11802612	1.00[ASN][1000 genomes]
rs11803448	1.00[ASN][1000 genomes]
rs11806171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807119	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809332	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723364	1.00[ASN][1000 genomes]
rs12724450	1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733783	0.94[EUR][1000 genomes]
rs12735903	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736584	1.00[ASN][1000 genomes]
rs12743761	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749958	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756583	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759551	1.00[ASN][1000 genomes]
rs28495360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34001546	1.00[ASN][1000 genomes]
rs34233130	1.00[ASN][1000 genomes]
rs34307322	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448981	1.00[ASN][1000 genomes]
rs34514406	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	1.00[ASN][1000 genomes]
rs34964511	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094010	1.00[ASN][1000 genomes]
rs35347210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35762205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35839143	1.00[ASN][1000 genomes]
rs35935423	1.00[ASN][1000 genomes]
rs4845	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56214117	1.00[ASN][1000 genomes]
rs58427317	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58853199	1.00[ASN][1000 genomes]
rs71515775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622688	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622689	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622696	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622697	0.81[EUR][1000 genomes]
rs71622698	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622702	1.00[ASN][1000 genomes]
rs74124663	1.00[ASN][1000 genomes]
rs74124686	1.00[ASN][1000 genomes]
rs7517003	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	1.00[ASN][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	chr1:150294800-150297400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150294800-150297400	Weak transcription	Left Ventricle	heart
5	chr1:150294800-150299200	Weak transcription	Aorta	Aorta
6	chr1:150294800-150305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:150295000-150297400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:150295000-150297400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:150295000-150297400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:150295000-150297400	Weak transcription	Colonic Mucosa	Colon
11	chr1:150295000-150297400	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:150295000-150297400	Weak transcription	Lung	lung
13	chr1:150295000-150297400	Weak transcription	Ovary	ovary
14	chr1:150295000-150297400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:150295000-150297400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:150295000-150297400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:150295000-150297400	Weak transcription	Spleen	Spleen
18	chr1:150295000-150297400	Weak transcription	HSMMtube	muscle
19	chr1:150295000-150298000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:150295000-150298000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:150295000-150298200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:150295000-150299200	Weak transcription	Gastric	stomach
23	chr1:150295000-150300400	Weak transcription	Esophagus	oesophagus
24	chr1:150295000-150304800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:150295000-150304800	Weak transcription	Fetal Heart	heart
26	chr1:150295200-150297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:150295200-150297400	Weak transcription	Brain Anterior Caudate	brain
28	chr1:150295200-150297400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:150295200-150297400	Weak transcription	Fetal Brain Female	brain
30	chr1:150295200-150297400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:150295200-150297400	Weak transcription	Osteobl	bone
32	chr1:150295200-150297800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:150295200-150297800	Weak transcription	NHLF	lung
34	chr1:150295200-150304800	Weak transcription	Stomach Mucosa	stomach
35	chr1:150295200-150331800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:150295400-150297400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:150295400-150297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:150295400-150297400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:150295400-150297400	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:150295400-150297400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:150295400-150297400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:150295400-150297400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:150295400-150297400	Weak transcription	Fetal Brain Male	brain
44	chr1:150295400-150297400	Weak transcription	Right Ventricle	heart
45	chr1:150295400-150297400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:150295400-150297400	Weak transcription	Thymus	Thymus
47	chr1:150295400-150297400	Weak transcription	HMEC	breast
48	chr1:150295400-150297400	Weak transcription	K562	blood
49	chr1:150295400-150297400	Weak transcription	NH-A	brain
50	chr1:150295400-150297600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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