Variant report

Variant	rs16900559
Chromosome Location	chr8:126352836-126352837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126350898..126353374-chr8:126424656..126426383,2	MCF-7	breast:
2	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
3	chr8:126345442..126348175-chr8:126352080..126354376,2	MCF-7	breast:
4	chr8:126350838..126353638-chr8:126441214..126443974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12541675	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545844	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549614	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16893118	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16900568	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385094	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs28895930	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309384	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871579	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871581	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871583	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55808842	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913855	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994510	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720592	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720595	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72720596	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720597	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720601	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722603	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722605	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722614	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722617	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
7	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
8	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
10	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
11	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:126341600-126354200	Weak transcription	Lung	lung
13	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
16	chr8:126344800-126353800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:126345200-126353400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:126346800-126353000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:126346800-126353200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:126346800-126353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:126346800-126353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:126346800-126353800	Weak transcription	Fetal Intestine Small	intestine
23	chr8:126346800-126354200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:126346800-126354200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:126346800-126354400	Weak transcription	Brain Anterior Caudate	brain
26	chr8:126346800-126354400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:126346800-126354400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:126346800-126354400	Weak transcription	Thymus	Thymus
29	chr8:126347000-126353800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:126347000-126354000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:126347000-126354400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:126347000-126354600	Weak transcription	Right Atrium	heart
33	chr8:126347000-126354800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:126347400-126353400	Weak transcription	HSMM	muscle
35	chr8:126347600-126353000	Weak transcription	HSMMtube	muscle
36	chr8:126347600-126353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:126347600-126354000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:126348000-126354600	Weak transcription	Fetal Heart	heart
39	chr8:126348200-126354200	Weak transcription	HepG2	liver
40	chr8:126348800-126353800	Weak transcription	Fetal Intestine Large	intestine
41	chr8:126348800-126369800	Weak transcription	Gastric	stomach
42	chr8:126349200-126353600	Weak transcription	K562	blood
43	chr8:126349200-126354200	Enhancers	A549	lung
44	chr8:126349400-126354400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:126349800-126354400	Weak transcription	HMEC	breast
46	chr8:126351200-126353600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:126351400-126360400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:126351600-126353200	Weak transcription	Fetal Thymus	thymus
49	chr8:126351600-126354200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:126351600-126354800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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