Variant report

Variant	rs2384915
Chromosome Location	chr8:126101680-126101681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125547520..125551844-chr8:126101419..126105683,3	MCF-7	breast:
2	chr8:126101179..126103538-chr8:126440176..126443117,2	K562	blood:
3	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
4	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:
5	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
6	chr8:126095296..126097801-chr8:126101628..126103639,2	K562	blood:
7	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086441	0.82[EUR][1000 genomes]
rs10097947	0.87[AMR][1000 genomes]
rs10102230	0.83[ASN][1000 genomes]
rs10103150	0.81[EUR][1000 genomes]
rs10111425	0.87[AMR][1000 genomes]
rs10441518	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956231	0.91[ASN][1000 genomes]
rs12545710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546285	0.82[AMR][1000 genomes]
rs12550607	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682006	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13282919	0.87[AMR][1000 genomes]
rs16900316	0.82[EUR][1000 genomes]
rs2384921	0.82[AMR][1000 genomes]
rs28670937	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34818959	0.85[AMR][1000 genomes]
rs3793447	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3860845	0.81[ASN][1000 genomes]
rs6651230	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6991343	0.87[AMR][1000 genomes]
rs7003069	0.81[EUR][1000 genomes]
rs7008915	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018283	0.91[ASN][1000 genomes]
rs7357375	0.85[AMR][1000 genomes]
rs7832609	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:126084000-126102400	Weak transcription	Fetal Heart	heart
6	chr8:126085400-126102400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:126085400-126102600	Weak transcription	Stomach Mucosa	stomach
8	chr8:126090800-126102800	Weak transcription	Aorta	Aorta
9	chr8:126091000-126103000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:126091200-126102600	Weak transcription	Fetal Brain Male	brain
11	chr8:126091200-126102600	Weak transcription	NHLF	lung
12	chr8:126091200-126103000	Weak transcription	Esophagus	oesophagus
13	chr8:126091200-126103000	Weak transcription	Pancreas	Pancrea
14	chr8:126091200-126103200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:126091800-126101800	Weak transcription	Fetal Intestine Small	intestine
16	chr8:126091800-126103200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:126093000-126102800	Weak transcription	Small Intestine	intestine
18	chr8:126093000-126103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:126093200-126101800	Weak transcription	K562	blood
20	chr8:126094000-126101800	Weak transcription	Thymus	Thymus
21	chr8:126094000-126102200	Weak transcription	Fetal Brain Female	brain
22	chr8:126094000-126103000	Weak transcription	Lung	lung
23	chr8:126094000-126103000	Weak transcription	Right Ventricle	heart
24	chr8:126094200-126102400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:126094400-126101800	Weak transcription	Brain Germinal Matrix	brain
26	chr8:126094400-126102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:126094400-126102800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:126094400-126102800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:126094400-126102800	Weak transcription	HSMMtube	muscle
30	chr8:126094400-126103000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:126094400-126103000	Weak transcription	Left Ventricle	heart
32	chr8:126094400-126103000	Weak transcription	Ovary	ovary
33	chr8:126094600-126102400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:126094600-126102600	Weak transcription	A549	lung
35	chr8:126094600-126103000	Weak transcription	Colonic Mucosa	Colon
36	chr8:126094800-126102800	Weak transcription	NH-A	brain
37	chr8:126095000-126102600	Weak transcription	Fetal Kidney	kidney
38	chr8:126095000-126102600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:126095000-126102800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:126095000-126103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:126095200-126101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:126095200-126101800	Weak transcription	HepG2	liver
43	chr8:126095400-126102400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:126095400-126102400	Weak transcription	NHEK	skin
45	chr8:126095400-126102600	Weak transcription	HSMM	muscle
46	chr8:126095400-126102800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:126095600-126101800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:126095600-126101800	Weak transcription	Fetal Lung	lung
49	chr8:126095600-126102400	Weak transcription	Osteobl	bone
50	chr8:126095600-126102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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