Variant report

Variant	rs12550607
Chromosome Location	chr8:126102072-126102073
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
2	chr8:125547520..125551844-chr8:126101419..126105683,3	MCF-7	breast:
3	chr8:126101179..126103538-chr8:126440176..126443117,2	K562	blood:
4	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
5	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:
6	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
7	chr8:126095296..126097801-chr8:126101628..126103639,2	K562	blood:
8	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
9	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10086441	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10087246	0.90[JPT][hapmap]
rs10102066	0.90[JPT][hapmap]
rs10102230	0.85[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10103150	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10104486	0.80[CEU][hapmap]
rs10216429	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs10216437	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs10429356	0.84[CHD][hapmap]
rs10441518	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481152	0.85[JPT][hapmap]
rs10956231	0.91[ASN][1000 genomes]
rs1156712	0.90[JPT][hapmap]
rs12542833	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs12545710	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12682006	0.82[CEU][hapmap];0.85[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1319792	0.90[JPT][hapmap]
rs16900177	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs16900316	0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2033130	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs2384915	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28670937	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3750234	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs3750236	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs3750237	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs3793447	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3860845	0.85[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4347009	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs6470327	0.90[JPT][hapmap]
rs6651230	0.85[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6989560	0.95[CHD][hapmap]
rs7003069	0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs7007960	0.90[JPT][hapmap]
rs7008915	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018283	0.91[ASN][1000 genomes]
rs7357375	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs7813917	0.95[CHD][hapmap];0.90[JPT][hapmap]
rs7832609	0.82[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297707	0.89[JPT][hapmap]
rs9297708	0.90[JPT][hapmap]
rs966946	0.84[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 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	chr8:126091800-126103200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:126093000-126102800	Weak transcription	Small Intestine	intestine
17	chr8:126093000-126103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:126094000-126102200	Weak transcription	Fetal Brain Female	brain
19	chr8:126094000-126103000	Weak transcription	Lung	lung
20	chr8:126094000-126103000	Weak transcription	Right Ventricle	heart
21	chr8:126094200-126102400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:126094400-126102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:126094400-126102800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:126094400-126102800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:126094400-126102800	Weak transcription	HSMMtube	muscle
26	chr8:126094400-126103000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:126094400-126103000	Weak transcription	Left Ventricle	heart
28	chr8:126094400-126103000	Weak transcription	Ovary	ovary
29	chr8:126094600-126102400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:126094600-126102600	Weak transcription	A549	lung
31	chr8:126094600-126103000	Weak transcription	Colonic Mucosa	Colon
32	chr8:126094800-126102800	Weak transcription	NH-A	brain
33	chr8:126095000-126102600	Weak transcription	Fetal Kidney	kidney
34	chr8:126095000-126102600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:126095000-126102800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:126095000-126103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:126095400-126102400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:126095400-126102400	Weak transcription	NHEK	skin
39	chr8:126095400-126102600	Weak transcription	HSMM	muscle
40	chr8:126095400-126102800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:126095600-126102400	Weak transcription	Osteobl	bone
42	chr8:126095600-126102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:126095800-126102400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:126095800-126102400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:126095800-126102600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:126096000-126102600	Weak transcription	HMEC	breast
47	chr8:126096200-126102400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:126096200-126102600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:126096600-126102400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:126096600-126102600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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