Variant report

Variant	rs57252921
Chromosome Location	chr8:126137312-126137313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126136568..126138069-chr8:126439799..126441480,2	MCF-7	breast:
2	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
3	chr8:126136833..126139565-chr8:126560076..126562610,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12056336	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679295	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12681565	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682185	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900457	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4481615	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55839055	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56326134	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57905807	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58179901	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58383711	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58805022	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59056247	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60494467	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988747	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6992545	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997136	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997418	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6997658	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997862	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7002224	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7014707	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015295	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017497	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73348122	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73348148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348187	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73349893	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73351205	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73351208	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73704543	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73704549	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73704556	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822618	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823372	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7827336	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833107	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833463	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7837996	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839274	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7844453	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
2	chr8:126117200-126137800	Weak transcription	Esophagus	oesophagus
3	chr8:126117400-126137600	Weak transcription	Spleen	Spleen
4	chr8:126117400-126137800	Weak transcription	Aorta	Aorta
5	chr8:126117400-126137800	Weak transcription	Pancreas	Pancrea
6	chr8:126117400-126138400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
8	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
9	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:126118000-126137400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
12	chr8:126118400-126137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:126120800-126137400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:126121000-126142800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:126122200-126137400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:126123600-126137600	Weak transcription	K562	blood
19	chr8:126124400-126137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:126127600-126137400	Weak transcription	HepG2	liver
21	chr8:126128400-126138000	Weak transcription	Lung	lung
22	chr8:126131400-126137600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:126131600-126137400	Weak transcription	Liver	Liver
24	chr8:126131600-126142800	Weak transcription	Brain Anterior Caudate	brain
25	chr8:126131800-126137600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:126132000-126137400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:126132000-126137600	Weak transcription	HUVEC	blood vessel
28	chr8:126132600-126137600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:126133200-126137400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:126133200-126137400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:126133200-126137400	Weak transcription	Fetal Intestine Large	intestine
32	chr8:126133200-126137400	Weak transcription	Fetal Kidney	kidney
33	chr8:126133200-126137400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:126133200-126137400	Weak transcription	Fetal Lung	lung
35	chr8:126133200-126137400	Weak transcription	Fetal Thymus	thymus
36	chr8:126133200-126137400	Weak transcription	HMEC	breast
37	chr8:126133200-126137600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:126133200-126138000	Weak transcription	Left Ventricle	heart
39	chr8:126133200-126140400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:126133200-126140400	Weak transcription	Brain Angular Gyrus	brain
41	chr8:126133200-126140400	Weak transcription	Ovary	ovary
42	chr8:126133200-126140800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:126133200-126140800	Weak transcription	Psoas Muscle	Psoas
44	chr8:126133200-126142200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:126133200-126142800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:126133400-126137400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:126133400-126137400	Weak transcription	Adipose Nuclei	Adipose
48	chr8:126133400-126137600	Weak transcription	Stomach Mucosa	stomach
49	chr8:126133400-126140400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:126133400-126140600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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