Variant report

Variant	rs57876250
Chromosome Location	chr8:126147898-126147899
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126147294..126149147-chr8:126153255..126155156,2	MCF-7	breast:
2	chr8:126132393..126134587-chr8:126146402..126148822,2	K562	blood:
3	chr8:126146505..126148944-chr8:126442364..126444249,2	MCF-7	breast:
4	chr8:126147732..126149263-chr8:126155870..126158265,2	K562	blood:
5	chr8:126146345..126147977-chr8:126156766..126159628,2	MCF-7	breast:
6	chr8:126147030..126148722-chr8:126158702..126160766,2	K562	blood:
7	chr8:126121970..126124659-chr8:126146296..126148884,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16900320	1.00[EUR][1000 genomes]
rs28392978	1.00[EUR][1000 genomes]
rs56117234	1.00[EUR][1000 genomes]
rs56798105	1.00[EUR][1000 genomes]
rs56988673	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57107402	1.00[EUR][1000 genomes]
rs57687393	1.00[EUR][1000 genomes]
rs57708414	1.00[EUR][1000 genomes]
rs58217279	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs59134934	1.00[EUR][1000 genomes]
rs59472229	1.00[EUR][1000 genomes]
rs59652837	1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs60361771	1.00[EUR][1000 genomes]
rs60524861	1.00[EUR][1000 genomes]
rs6992378	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6992389	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73337613	1.00[EUR][1000 genomes]
rs73704923	1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs7814242	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7820192	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[EUR][1000 genomes]
rs7825375	1.00[EUR][1000 genomes]
rs7834583	1.00[EUR][1000 genomes]
rs7839038	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839468	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
2	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
3	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
5	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:126137600-126158400	Weak transcription	Placenta	Placenta
8	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
9	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
10	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:126138200-126150600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:126138200-126156000	Weak transcription	Aorta	Aorta
15	chr8:126138200-126156400	Weak transcription	Esophagus	oesophagus
16	chr8:126138200-126158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:126138200-126160200	Weak transcription	Spleen	Spleen
18	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:126140400-126162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:126141000-126151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:126141000-126153600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:126141000-126155800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:126141000-126156200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:126141200-126151000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:126141200-126151200	Weak transcription	Brain Angular Gyrus	brain
28	chr8:126141200-126153600	Weak transcription	HMEC	breast
29	chr8:126141600-126156400	Weak transcription	Lung	lung
30	chr8:126141600-126156400	Weak transcription	Small Intestine	intestine
31	chr8:126141600-126159800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:126141800-126151000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:126142600-126153600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:126142600-126153600	Weak transcription	NHEK	skin
35	chr8:126142600-126153800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:126142600-126155200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:126142600-126163000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:126142800-126156600	Weak transcription	Liver	Liver
40	chr8:126142800-126162000	Weak transcription	HSMM	muscle
41	chr8:126143000-126153600	Weak transcription	NHLF	lung
42	chr8:126143000-126155800	Weak transcription	NH-A	brain
43	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
44	chr8:126143200-126149600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:126143200-126151000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:126143200-126151200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:126143200-126153400	Weak transcription	A549	lung
48	chr8:126143200-126153600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:126143200-126153600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:126143200-126155800	Weak transcription	K562	blood

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