Variant report

Variant	rs7460712
Chromosome Location	chr8:126142403-126142404
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126141138..126145010-chr8:126152287..126154205,3	MCF-7	breast:
2	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
3	chr8:126142344..126144214-chr8:126441549..126444543,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10094316	0.81[LWK][hapmap];0.88[YRI][hapmap]
rs10100556	0.88[YRI][hapmap]
rs10112218	0.88[YRI][hapmap]
rs12544146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16900402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17398660	0.86[CEU][hapmap]
rs2891630	0.83[LWK][hapmap];0.88[YRI][hapmap]
rs5007394	0.88[YRI][hapmap]
rs55740518	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55843815	0.88[ASN][1000 genomes]
rs55992026	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470338	0.83[LWK][hapmap];0.88[YRI][hapmap]
rs6470339	0.83[LWK][hapmap];0.88[YRI][hapmap]
rs72720529	0.87[EUR][1000 genomes]
rs72720531	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72720532	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72720536	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720538	0.94[EUR][1000 genomes]
rs72720547	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72720553	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72720554	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72720555	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720560	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813225	0.83[LWK][hapmap];0.88[YRI][hapmap]

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:116 , 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	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:126121000-126142800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:126131600-126142800	Weak transcription	Brain Anterior Caudate	brain
9	chr8:126133200-126142800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:126133400-126143000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:126133800-126143000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:126133800-126146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:126137600-126158400	Weak transcription	Placenta	Placenta
14	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
15	chr8:126137800-126142600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:126137800-126142600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:126137800-126146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:126138000-126142600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:126138000-126142800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:126138000-126142800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:126138000-126142800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:126138000-126145200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:126138000-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
25	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:126138200-126142600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:126138200-126142600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:126138200-126143000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:126138200-126146000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:126138200-126150600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:126138200-126156000	Weak transcription	Aorta	Aorta
34	chr8:126138200-126156400	Weak transcription	Esophagus	oesophagus
35	chr8:126138200-126158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:126138200-126160200	Weak transcription	Spleen	Spleen
37	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:126138400-126147400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:126138800-126142600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:126139000-126142800	Weak transcription	HepG2	liver
43	chr8:126139000-126144400	Weak transcription	Fetal Intestine Small	intestine
44	chr8:126139800-126144600	Strong transcription	Primary T cells from cord blood	blood
45	chr8:126140200-126143400	Enhancers	Fetal Heart	heart
46	chr8:126140400-126142600	Enhancers	Fetal Lung	lung
47	chr8:126140400-126162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:126140600-126143200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:126140600-126143400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:126140600-126143800	Enhancers	HUVEC	blood vessel

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