Variant report

Variant	rs34461511
Chromosome Location	chr8:126156120-126156121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126155085..126158836-chr8:126194107..126197268,3	MCF-7	breast:
2	chr8:126151658..126158351-chr8:126441101..126448001,9	MCF-7	breast:
3	chr8:126154610..126158392-chr8:126442240..126446701,5	MCF-7	breast:
4	chr8:126151269..126152960-chr8:126154385..126157125,2	MCF-7	breast:
5	chr8:126147732..126149263-chr8:126155870..126158265,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	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	0.83[EUR][1000 genomes]
rs13253942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.95[ASN][1000 genomes]
rs13264500	0.92[EUR][1000 genomes]
rs13267325	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.95[ASN][1000 genomes]
rs34737949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.84[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.84[EUR][1000 genomes]
rs35991395	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4871570	0.95[ASN][1000 genomes]
rs56135036	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.86[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	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:105 , 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	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
3	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
5	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:126137600-126158400	Weak transcription	Placenta	Placenta
7	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
8	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
9	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:126138200-126156400	Weak transcription	Esophagus	oesophagus
13	chr8:126138200-126158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:126138200-126160200	Weak transcription	Spleen	Spleen
15	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:126140400-126162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:126141000-126156200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:126141600-126156400	Weak transcription	Lung	lung
21	chr8:126141600-126156400	Weak transcription	Small Intestine	intestine
22	chr8:126141600-126159800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:126142600-126163000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:126142800-126156600	Weak transcription	Liver	Liver
26	chr8:126142800-126162000	Weak transcription	HSMM	muscle
27	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
28	chr8:126143200-126158000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:126143200-126162200	Weak transcription	GM12878-XiMat	blood
30	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
32	chr8:126143400-126156200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:126143400-126156600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:126143400-126162200	Weak transcription	HSMMtube	muscle
35	chr8:126143400-126163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:126143600-126156400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:126143600-126160200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:126143800-126157800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:126143800-126160000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:126143800-126163800	Weak transcription	Fetal Lung	lung
41	chr8:126144200-126156400	Weak transcription	Brain Anterior Caudate	brain
42	chr8:126144200-126156400	Weak transcription	Fetal Thymus	thymus
43	chr8:126144200-126156600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:126144200-126157800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:126144400-126162000	Weak transcription	Hela-S3	cervix
46	chr8:126144600-126156400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:126144600-126163800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:126144600-126168000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:126145000-126163000	Weak transcription	Dnd41	blood
50	chr8:126146200-126158000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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