Variant report

Variant	rs35475899
Chromosome Location	chr8:126187075-126187076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126184359..126187803-chr8:126204598..126207522,3	K562	blood:
2	chr8:126184530..126188708-chr8:126189850..126192758,4	MCF-7	breast:
3	chr8:126182582..126184381-chr8:126186885..126189550,2	K562	blood:
4	chr1:875400..877590-chr8:126185955..126188744,2	K562	blood:

Variant related genes	Relation type
ENSG00000187634	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs13253942	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13264500	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13267325	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34737949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56135036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[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	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
9	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:126160600-126187400	Weak transcription	Gastric	stomach
11	chr8:126163200-126193200	Weak transcription	Ovary	ovary
12	chr8:126166000-126200200	Weak transcription	Dnd41	blood
13	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:126169800-126187200	Weak transcription	Colonic Mucosa	Colon
15	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:126171000-126199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
18	chr8:126176200-126200400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:126179200-126194400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:126179200-126195800	Weak transcription	Esophagus	oesophagus
21	chr8:126179400-126187200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:126179800-126193800	Weak transcription	Pancreas	Pancrea
24	chr8:126181200-126187400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:126181200-126188200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:126181800-126200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
28	chr8:126182400-126201000	Weak transcription	HepG2	liver
29	chr8:126184000-126200400	Weak transcription	Primary T cells from cord blood	blood
30	chr8:126184200-126187200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:126184600-126187400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:126184600-126188200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:126185000-126189200	Enhancers	Brain Substantia Nigra	brain
34	chr8:126185200-126187800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:126185200-126188200	Enhancers	NHEK	skin
36	chr8:126185200-126188400	Enhancers	NHDF-Ad	bronchial
37	chr8:126185400-126187600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:126185400-126187800	Enhancers	Brain Hippocampus Middle	brain
39	chr8:126185400-126187800	Enhancers	HSMMtube	muscle
40	chr8:126185400-126188000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:126185400-126188400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:126185400-126188400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:126185400-126188400	Enhancers	Osteobl	bone
44	chr8:126185400-126188600	Enhancers	Fetal Lung	lung
45	chr8:126185400-126189400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:126185600-126187600	Enhancers	Fetal Muscle Leg	muscle
47	chr8:126185600-126187800	Enhancers	NHLF	lung
48	chr8:126185600-126189000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:126185600-126189400	Enhancers	Fetal Intestine Large	intestine
50	chr8:126185600-126190400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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