Variant report

Variant	rs28629349
Chromosome Location	chr8:92084808-92084809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
2	chr8:92047814..92049804-chr8:92084562..92087009,2	K562	blood:
3	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10090581	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10095630	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10100069	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10110267	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10111323	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10216413	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956790	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956791	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956792	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956793	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956794	0.81[EUR][1000 genomes]
rs1138489	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11557571	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777826	0.81[EUR][1000 genomes]
rs11778758	0.81[EUR][1000 genomes]
rs11783034	0.81[EUR][1000 genomes]
rs11785003	0.81[EUR][1000 genomes]
rs11786324	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1180	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12334996	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12540975	0.81[EUR][1000 genomes]
rs12542178	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12542580	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12545969	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12679861	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28429767	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28750250	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34520902	0.81[EUR][1000 genomes]
rs34548877	0.80[EUR][1000 genomes]
rs35066004	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35606777	0.80[EUR][1000 genomes]
rs3808378	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3885968	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3885969	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4129720	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4373488	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4493873	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4501548	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501550	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4568579	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4577919	0.81[EUR][1000 genomes]
rs4620242	0.81[EUR][1000 genomes]
rs55762572	0.80[EUR][1000 genomes]
rs55775840	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56004977	0.81[EUR][1000 genomes]
rs56084507	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56278134	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56306245	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57771593	0.81[EUR][1000 genomes]
rs58278856	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61279214	0.81[EUR][1000 genomes]
rs62526680	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62526682	0.81[EUR][1000 genomes]
rs62526683	0.81[EUR][1000 genomes]
rs62526685	0.81[EUR][1000 genomes]
rs62526686	0.81[EUR][1000 genomes]
rs62531560	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6471265	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6993713	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014578	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815938	0.93[EUR][1000 genomes]
rs7816107	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7819178	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7820904	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832592	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7841266	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8081	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643319	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9918929	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92094600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:92083200-92095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
5	chr8:92083400-92085000	Enhancers	Small Intestine	intestine
6	chr8:92083400-92085600	Weak transcription	Left Ventricle	heart
7	chr8:92083400-92088400	Weak transcription	Stomach Mucosa	stomach
8	chr8:92083400-92090400	Weak transcription	Ovary	ovary
9	chr8:92083400-92091000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:92083400-92094600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:92083400-92103600	Weak transcription	Aorta	Aorta
12	chr8:92083400-92103600	Weak transcription	Lung	lung
13	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:92083600-92085000	Weak transcription	Adipose Nuclei	Adipose
15	chr8:92083600-92085000	Weak transcription	Fetal Brain Female	brain
16	chr8:92083600-92085000	Weak transcription	NHDF-Ad	bronchial
17	chr8:92083600-92085200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:92083600-92085200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:92083600-92085400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:92083600-92085600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:92083600-92085600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:92083600-92085600	Weak transcription	Fetal Kidney	kidney
23	chr8:92083600-92085800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:92083600-92086200	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:92083600-92088800	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:92083600-92089000	Weak transcription	Fetal Lung	lung
27	chr8:92083600-92090200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:92083600-92090400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:92083600-92090400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:92083600-92090400	Weak transcription	HSMMtube	muscle
31	chr8:92083600-92090600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:92083600-92091600	Weak transcription	Right Ventricle	heart
33	chr8:92083600-92092400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:92083600-92093600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:92083600-92094600	Weak transcription	Fetal Intestine Small	intestine
36	chr8:92083600-92094600	Weak transcription	Fetal Stomach	stomach
37	chr8:92083600-92103600	Weak transcription	Gastric	stomach
38	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
43	chr8:92083800-92085000	Genic enhancers	Hela-S3	cervix
44	chr8:92083800-92085000	Genic enhancers	NHEK	skin
45	chr8:92083800-92085200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:92083800-92085600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:92083800-92086600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:92083800-92088400	Weak transcription	NHLF	lung
49	chr8:92083800-92090600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:92083800-92094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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