Variant report

Variant	rs60322323
Chromosome Location	chr15:77861667-77861668
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77861495..77863569-chr15:77924016..77925973,2	K562	blood:
2	chr15:77861324..77862294-chr15:77925777..77926357,2	K562	blood:

Variant related genes	Relation type
ENSG00000169783	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11853548	1.00[EUR][1000 genomes]
rs11853824	1.00[EUR][1000 genomes]
rs11854532	1.00[EUR][1000 genomes]
rs11855576	1.00[EUR][1000 genomes]
rs11857529	1.00[EUR][1000 genomes]
rs12324340	1.00[EUR][1000 genomes]
rs2667765	1.00[EUR][1000 genomes]
rs28439897	1.00[EUR][1000 genomes]
rs28498879	1.00[EUR][1000 genomes]
rs28557414	1.00[EUR][1000 genomes]
rs28634734	1.00[EUR][1000 genomes]
rs28635388	1.00[EUR][1000 genomes]
rs34611551	1.00[EUR][1000 genomes]
rs57215429	1.00[EUR][1000 genomes]
rs57365401	1.00[EUR][1000 genomes]
rs57738968	1.00[EUR][1000 genomes]
rs58372659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58432220	1.00[EUR][1000 genomes]
rs58490956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58723442	1.00[EUR][1000 genomes]
rs58745170	1.00[EUR][1000 genomes]
rs59320137	1.00[EUR][1000 genomes]
rs59587253	0.81[AMR][1000 genomes]
rs60309400	1.00[AMR][1000 genomes]
rs60380768	1.00[EUR][1000 genomes]
rs60772286	1.00[EUR][1000 genomes]
rs60789552	0.81[AMR][1000 genomes]
rs6495243	1.00[EUR][1000 genomes]
rs7181139	1.00[EUR][1000 genomes]
rs7182984	1.00[EUR][1000 genomes]
rs73448973	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73450717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73450740	1.00[AMR][1000 genomes]
rs73450925	0.81[AMR][1000 genomes]
rs73450926	0.81[AMR][1000 genomes]
rs73450931	0.81[AMR][1000 genomes]
rs73450935	0.81[AMR][1000 genomes]
rs73450959	1.00[EUR][1000 genomes]
rs74025306	0.81[AMR][1000 genomes]
rs74025393	1.00[EUR][1000 genomes]
rs8037835	1.00[EUR][1000 genomes]
rs8038325	1.00[EUR][1000 genomes]
rs907375	1.00[EUR][1000 genomes]
rs907394	1.00[EUR][1000 genomes]
rs907397	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1043284	chr15:77740632-77884026	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv570139	chr15:77762493-77865459	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904417	chr15:77851535-77935992	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77855600-77862600	Enhancers	Brain Cingulate Gyrus	brain
2	chr15:77857200-77862600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:77857400-77862000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:77859000-77862400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:77859200-77862000	Enhancers	Brain Anterior Caudate	brain
6	chr15:77859200-77862200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:77859400-77862600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:77859600-77862200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr15:77860000-77862600	Enhancers	Fetal Stomach	stomach
10	chr15:77860000-77862800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:77860200-77862400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:77860200-77862400	Enhancers	Brain Angular Gyrus	brain
13	chr15:77860200-77862400	Enhancers	Brain Substantia Nigra	brain
14	chr15:77860400-77862400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr15:77860600-77862400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:77860600-77862400	Enhancers	Fetal Brain Male	brain
17	chr15:77860800-77862200	Weak transcription	Lung	lung
18	chr15:77860800-77862400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:77860800-77862400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:77860800-77862400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:77860800-77862400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:77860800-77862400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:77860800-77862400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:77860800-77862600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr15:77860800-77862600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:77860800-77862600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:77860800-77862800	Enhancers	Fetal Muscle Leg	muscle
28	chr15:77861000-77862000	Weak transcription	Fetal Thymus	thymus
29	chr15:77861000-77862400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr15:77861000-77862400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:77861000-77862400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr15:77861000-77862400	Enhancers	A549	lung
33	chr15:77861000-77862400	Enhancers	NHLF	lung
34	chr15:77861000-77862600	Enhancers	Fetal Kidney	kidney
35	chr15:77861200-77862000	Active TSS	Ovary	ovary
36	chr15:77861200-77862200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:77861200-77862200	Flanking Active TSS	Osteobl	bone
38	chr15:77861200-77862400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:77861400-77861800	Enhancers	Primary hematopoietic stem cells	blood
40	chr15:77861400-77861800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr15:77861400-77861800	Flanking Active TSS	Fetal Lung	lung
42	chr15:77861400-77861800	Active TSS	Left Ventricle	heart
43	chr15:77861400-77861800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr15:77861400-77861800	Active TSS	Stomach Mucosa	stomach
45	chr15:77861400-77861800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr15:77861400-77861800	Bivalent/Poised TSS	HepG2	liver
47	chr15:77861400-77861800	Enhancers	HMEC	breast
48	chr15:77861400-77862000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:77861400-77862000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:77861400-77862000	Active TSS	Duodenum Smooth Muscle	Duodenum

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