Variant report

Variant	rs60145621
Chromosome Location	chr8:120799303-120799304
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120799253..120800987-chr8:120810493..120812679,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10087974	0.81[EUR][1000 genomes]
rs10088205	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10088741	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10108101	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11785572	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11985347	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11996390	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11998531	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12156318	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1355174	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16893214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17818097	0.85[ASN][1000 genomes]
rs17818440	0.85[ASN][1000 genomes]
rs17818446	0.85[ASN][1000 genomes]
rs2063283	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2063284	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28394804	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28490296	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28551477	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56180159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56281801	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56366115	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60917006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61438417	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62526598	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62526601	0.85[ASN][1000 genomes]
rs62526606	0.85[ASN][1000 genomes]
rs6469845	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6988621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6989803	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6994085	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6995594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6999808	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7002501	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7003687	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7815389	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7827811	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7828086	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7831639	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7831973	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836830	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7838465	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9297606	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs953614	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs953615	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9650078	0.85[ASN][1000 genomes]
rs987534	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:120760600-120804600	Weak transcription	Psoas Muscle	Psoas
5	chr8:120761600-120800800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:120767200-120807400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:120780400-120801200	Weak transcription	Brain Substantia Nigra	brain
8	chr8:120781000-120807000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:120781200-120801000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:120781200-120801400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:120781200-120804400	Weak transcription	Spleen	Spleen
13	chr8:120781200-120804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:120781200-120807000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:120781200-120807800	Weak transcription	NHLF	lung
16	chr8:120781200-120812800	Weak transcription	Colonic Mucosa	Colon
17	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:120781400-120802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:120781400-120803000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:120781400-120804400	Weak transcription	Esophagus	oesophagus
21	chr8:120781400-120804600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:120781400-120804800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:120781400-120805000	Weak transcription	Gastric	stomach
24	chr8:120781400-120812800	Weak transcription	Right Ventricle	heart
25	chr8:120781400-120813800	Weak transcription	Aorta	Aorta
26	chr8:120781600-120812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:120783800-120804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:120785200-120812000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:120785200-120812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:120785600-120810600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:120785800-120808800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:120785800-120810400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:120786600-120810000	Strong transcription	Fetal Thymus	thymus
35	chr8:120787800-120801600	Weak transcription	Small Intestine	intestine
36	chr8:120788000-120802800	Weak transcription	Lung	lung
37	chr8:120788800-120799400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:120788800-120805800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:120790800-120801600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
41	chr8:120791200-120801000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:120791400-120801200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:120791400-120807200	Weak transcription	Fetal Brain Male	brain
44	chr8:120792000-120801800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:120792200-120801400	Weak transcription	Thymus	Thymus
46	chr8:120792400-120812600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:120792800-120801400	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:120792800-120801400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:120792800-120806800	Weak transcription	Fetal Kidney	kidney
50	chr8:120793000-120800400	Weak transcription	Fetal Brain Female	brain

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