Variant report

Variant	rs4433384
Chromosome Location	chr1:154133316-154133317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154128999..154131626-chr1:154132372..154134998,2	K562	blood:
2	chr1:153961678..153964688-chr1:154130788..154133613,4	K562	blood:
3	chr1:154132587..154134214-chr1:154154534..154156738,2	MCF-7	breast:
4	chr1:154130730..154134343-chr1:154138562..154143289,5	K562	blood:
5	chr1:154130461..154134364-chr1:154154603..154156791,6	K562	blood:
6	chr1:154132448..154135627-chr1:154190837..154194470,3	K562	blood:
7	chr1:154131512..154133730-chr1:154137495..154140400,2	MCF-7	breast:
8	chr1:154125898..154128138-chr1:154131944..154134156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264384	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143552	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11265238	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11802893	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12026177	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028949	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038362	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16835846	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16835852	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28372838	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002660	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34128679	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34335016	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35761479	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3811455	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3935419	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4620534	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60282844	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6676022	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv520398	chr1:154068196-154141908	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000153	chr1:154074249-154152417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv872451	chr1:154101519-154139757	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr1:154112200-154138400	Weak transcription	Psoas Muscle	Psoas
2	chr1:154126400-154146000	Strong transcription	HMEC	breast
3	chr1:154127000-154143400	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr1:154127000-154143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:154127000-154148400	Strong transcription	Fetal Intestine Large	intestine
6	chr1:154127000-154149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:154127200-154146000	Strong transcription	Fetal Brain Female	brain
8	chr1:154127400-154148200	Strong transcription	Liver	Liver
9	chr1:154127600-154136400	Weak transcription	Right Ventricle	heart
10	chr1:154127600-154136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:154127600-154136600	Weak transcription	Esophagus	oesophagus
12	chr1:154127600-154148400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:154127800-154140200	Weak transcription	Pancreas	Pancrea
14	chr1:154127800-154150000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:154128000-154134000	Strong transcription	NHDF-Ad	bronchial
16	chr1:154128000-154148400	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:154128000-154150400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:154128000-154150800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:154128200-154150200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:154128200-154151200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:154128400-154137200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:154128400-154137800	Weak transcription	Fetal Heart	heart
23	chr1:154128400-154146000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:154128400-154148400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:154128600-154146000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:154128600-154148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:154129000-154133600	Strong transcription	Rectal Smooth Muscle	rectum
28	chr1:154129400-154134000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:154129600-154133600	Genic enhancers	Dnd41	blood
30	chr1:154129600-154143600	Strong transcription	HSMMtube	muscle
31	chr1:154129600-154145600	Strong transcription	HepG2	liver
32	chr1:154129600-154145600	Strong transcription	NHEK	skin
33	chr1:154129600-154149800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:154129600-154150400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr1:154129800-154133600	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:154129800-154148200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:154130000-154133800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:154130000-154134000	Strong transcription	Brain Germinal Matrix	brain
39	chr1:154130000-154135000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr1:154130000-154148400	Strong transcription	HSMM	muscle
41	chr1:154130200-154145800	Strong transcription	Colonic Mucosa	Colon
42	chr1:154130200-154150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:154130400-154137800	Strong transcription	Fetal Kidney	kidney
44	chr1:154130600-154134000	Strong transcription	Left Ventricle	heart
45	chr1:154130600-154134400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:154130600-154134400	Weak transcription	Spleen	Spleen
47	chr1:154130600-154135600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:154130600-154138600	Strong transcription	Colon Smooth Muscle	Colon
49	chr1:154130600-154148000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:154130600-154148400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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