Variant report

Variant	rs10112583
Chromosome Location	chr8:126123256-126123257
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: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	chr8:126102864..126104610-chr8:126121575..126124532,2	K562	blood:
2	chr8:126102968..126106954-chr8:126119806..126124843,7	MCF-7	breast:
3	chr8:126121970..126124659-chr8:126146296..126148884,2	K562	blood:
4	chr8:126089121..126090954-chr8:126122040..126124119,2	K562	blood:
5	chr8:126121150..126124061-chr8:126446457..126448780,3	K562	blood:
6	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:
7	chr8:126122099..126124809-chr8:126126071..126128199,2	MCF-7	breast:
8	chr8:126122076..126124828-chr8:126440286..126443846,3	MCF-7	breast:
9	chr8:126109384..126111604-chr8:126122578..126124828,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10089963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10093813	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10093819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10095101	0.95[ASN][1000 genomes]
rs10096522	0.95[ASN][1000 genomes]
rs10097568	0.95[ASN][1000 genomes]
rs10098862	0.95[ASN][1000 genomes]
rs10099802	0.82[ASN][1000 genomes]
rs10102769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10103274	1.00[JPT][hapmap]
rs10106909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10109490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10109574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10110958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10112171	0.98[ASN][1000 genomes]
rs10216523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10283187	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10956230	1.00[JPT][hapmap]
rs2303523	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28469260	0.95[ASN][1000 genomes]
rs28597078	0.95[ASN][1000 genomes]
rs28700192	0.95[ASN][1000 genomes]
rs28867439	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763593	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7010385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7016677	0.95[ASN][1000 genomes]
rs73348181	0.95[ASN][1000 genomes]
rs7357374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs954889	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9987342	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
2	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
3	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
4	chr8:126113600-126123600	Strong transcription	Fetal Thymus	thymus
5	chr8:126114200-126123600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:126114400-126124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:126117200-126131000	Weak transcription	Colonic Mucosa	Colon
8	chr8:126117200-126137800	Weak transcription	Esophagus	oesophagus
9	chr8:126117400-126131200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:126117400-126131200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:126117400-126132800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:126117400-126132800	Weak transcription	Left Ventricle	heart
13	chr8:126117400-126137600	Weak transcription	Spleen	Spleen
14	chr8:126117400-126137800	Weak transcription	Aorta	Aorta
15	chr8:126117400-126137800	Weak transcription	Pancreas	Pancrea
16	chr8:126117400-126138400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
18	chr8:126117600-126125800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:126117600-126130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:126117600-126132800	Weak transcription	Ovary	ovary
21	chr8:126117600-126132800	Weak transcription	Psoas Muscle	Psoas
22	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
23	chr8:126117800-126137200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:126118000-126131000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:126118000-126132800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:126118000-126137400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
29	chr8:126118400-126127800	Weak transcription	Lung	lung
30	chr8:126118400-126131200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:126118400-126131200	Weak transcription	Adipose Nuclei	Adipose
32	chr8:126118400-126131200	Weak transcription	HSMMtube	muscle
33	chr8:126118400-126137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:126118600-126130600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:126119200-126132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:126119800-126127400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:126120000-126123600	Strong transcription	Primary T cells from cord blood	blood
39	chr8:126120000-126127400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:126120200-126132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:126120200-126136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:126120400-126131200	Weak transcription	Fetal Intestine Small	intestine
43	chr8:126120400-126136800	Weak transcription	Placenta	Placenta
44	chr8:126120600-126126800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:126120600-126130800	Weak transcription	Fetal Intestine Large	intestine
46	chr8:126120600-126131000	Weak transcription	Fetal Lung	lung
47	chr8:126120600-126131200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:126120800-126136800	Weak transcription	Fetal Stomach	stomach
50	chr8:126120800-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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