Variant report

Variant	rs73348148
Chromosome Location	chr8:126140347-126140348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126138185..126141108-chr8:126441359..126446173,6	MCF-7	breast:
2	chr8:126134513..126137365-chr8:126139096..126140829,2	K562	blood:
3	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 46 )
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];0.92[ASN][1000 genomes]
rs12679295	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681565	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682185	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16900457	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4481615	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55839055	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56326134	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57252921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57905807	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58179901	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58383711	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58805022	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59056247	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60494467	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6984988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988747	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6992545	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997136	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997418	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6997658	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997862	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002224	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7014707	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015295	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017497	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348122	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73348187	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73349893	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73351205	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73351208	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73704543	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73704549	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73704556	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7822618	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823372	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827336	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833107	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833463	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837996	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7839274	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7844453	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[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	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	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:110 , 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	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
3	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
4	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
6	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:126121000-126142800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:126131600-126142800	Weak transcription	Brain Anterior Caudate	brain
10	chr8:126133200-126140400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:126133200-126140400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:126133200-126140400	Weak transcription	Ovary	ovary
13	chr8:126133200-126140800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:126133200-126140800	Weak transcription	Psoas Muscle	Psoas
15	chr8:126133200-126142200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:126133200-126142800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:126133400-126140400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:126133400-126140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:126133400-126143000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:126133800-126143000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:126133800-126146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:126134000-126140600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:126134400-126140800	Weak transcription	Small Intestine	intestine
24	chr8:126137600-126140400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:126137600-126158400	Weak transcription	Placenta	Placenta
26	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
27	chr8:126137800-126140400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:126137800-126142400	Weak transcription	Dnd41	blood
29	chr8:126137800-126142600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:126137800-126142600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:126137800-126146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:126138000-126140400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:126138000-126140400	Weak transcription	Adipose Nuclei	Adipose
34	chr8:126138000-126140400	Weak transcription	Fetal Lung	lung
35	chr8:126138000-126140600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:126138000-126140600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:126138000-126140800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:126138000-126140800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:126138000-126140800	Weak transcription	HMEC	breast
40	chr8:126138000-126142000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:126138000-126142600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:126138000-126142800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:126138000-126142800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:126138000-126142800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:126138000-126145200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:126138000-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
48	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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