Variant report

Variant	rs4870845
Chromosome Location	chr8:124096721-124096722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124084871..124087578-chr8:124096099..124098249,3	MCF-7	breast:
2	chr8:124095616..124097534-chr8:124119828..124121814,2	MCF-7	breast:
3	chr8:124096600..124098106-chr8:124124370..124126385,2	MCF-7	breast:
4	chr8:124086616..124088473-chr8:124096119..124098263,2	K562	blood:

Variant related genes	Relation type
ENSG00000156787	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10101062	0.90[ASN][1000 genomes]
rs10101590	0.91[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10109587	0.87[ASN][1000 genomes]
rs10505431	0.91[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956120	0.87[ASN][1000 genomes]
rs11774489	0.82[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs11774656	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs11781484	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs11785137	0.86[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11786727	0.82[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12541269	0.92[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12541786	0.84[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12543807	0.92[JPT][hapmap]
rs12545026	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12550310	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs13439161	0.82[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs13439167	0.87[ASN][1000 genomes]
rs16897969	0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs16897994	0.87[ASN][1000 genomes]
rs2385163	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385164	0.85[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2891695	0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4870846	0.82[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs4870847	0.84[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs4871345	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4871346	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4871347	0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs4871348	0.87[ASN][1000 genomes]
rs56406971	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60127324	0.90[ASN][1000 genomes]
rs60644151	0.90[ASN][1000 genomes]
rs60957496	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62521774	0.88[ASN][1000 genomes]
rs62521777	0.90[ASN][1000 genomes]
rs62521780	0.87[ASN][1000 genomes]
rs6470138	0.92[ASN][1000 genomes]
rs6988792	0.90[ASN][1000 genomes]
rs7012815	0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs73337892	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7836014	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs952655	0.84[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs952656	0.82[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124085800-124118800	Weak transcription	Small Intestine	intestine
2	chr8:124086000-124097400	Weak transcription	Osteobl	bone
3	chr8:124086000-124098400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:124086000-124108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:124086000-124109600	Weak transcription	HMEC	breast
6	chr8:124086000-124111200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:124086000-124112400	Weak transcription	NH-A	brain
8	chr8:124086000-124113400	Weak transcription	Brain Angular Gyrus	brain
9	chr8:124086000-124115600	Weak transcription	Right Ventricle	heart
10	chr8:124086000-124115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:124086000-124116200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:124086000-124116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:124086000-124117200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:124086000-124117200	Weak transcription	HSMMtube	muscle
15	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
17	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:124086200-124098600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:124086200-124100000	Weak transcription	Placenta	Placenta
22	chr8:124086200-124115800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:124086200-124122000	Weak transcription	Spleen	Spleen
24	chr8:124086200-124142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
27	chr8:124086400-124098000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:124086400-124112000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:124086600-124145200	Weak transcription	Fetal Brain Male	brain
30	chr8:124086600-124168800	Weak transcription	Lung	lung
31	chr8:124086800-124114000	Weak transcription	Psoas Muscle	Psoas
32	chr8:124087000-124110200	Weak transcription	Brain Germinal Matrix	brain
33	chr8:124087200-124097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:124087200-124098200	Weak transcription	NHDF-Ad	bronchial
35	chr8:124087200-124098400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:124087200-124098400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:124087200-124112400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:124087200-124143800	Weak transcription	Fetal Kidney	kidney
39	chr8:124088600-124115800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:124089200-124097000	Strong transcription	Fetal Thymus	thymus
41	chr8:124089400-124099200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:124089400-124099400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:124089400-124100600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:124089400-124116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:124089600-124101800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:124090000-124099800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:124090000-124100200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:124090200-124100200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:124090600-124097200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:124090600-124098000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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