Variant report

Variant	rs2307115
Chromosome Location	chr5:74990348-74990349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74980503..74982901-chr5:74987691..74991437,3	K562	blood:
2	chr5:74972829..74974939-chr5:74988828..74991642,2	K562	blood:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10515213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563589	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563610	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563877	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563974	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563995	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17649248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649266	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649332	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17649350	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649362	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291630	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2307112	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs253387	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34356	0.85[EUR][1000 genomes]
rs3797581	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4703676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704233	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58255973	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58968428	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633981	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633982	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633983	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633984	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72633985	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633986	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633987	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72633988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633989	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72633990	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7380748	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs888788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers 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	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2307115	POC5	cis	Thyroid	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74965000-74991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:74965000-74998000	Weak transcription	Fetal Brain Female	brain
3	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
4	chr5:74965400-74997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
8	chr5:74965600-74998200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:74965600-74998200	Weak transcription	Fetal Heart	heart
10	chr5:74965600-75010400	Weak transcription	Gastric	stomach
11	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
12	chr5:74965800-74991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:74966000-74991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:74966000-74998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:74968800-74998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:74969000-74991600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:74971000-74997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
19	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
20	chr5:74974400-74997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:74976600-74998200	Weak transcription	Colonic Mucosa	Colon
22	chr5:74977200-74997600	Weak transcription	Fetal Kidney	kidney
23	chr5:74977200-74997800	Weak transcription	Brain Angular Gyrus	brain
24	chr5:74977400-74997600	Weak transcription	NHEK	skin
25	chr5:74977400-74997800	Weak transcription	NHDF-Ad	bronchial
26	chr5:74978000-74991400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:74978200-74997600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:74978800-74992000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:74978800-74992200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:74978800-74997600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:74979000-74997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:74979000-75003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:74979400-74991000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:74979800-74998400	Weak transcription	Ovary	ovary
35	chr5:74980000-74991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:74980800-74991400	Strong transcription	Dnd41	blood
38	chr5:74981000-74991200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:74981000-74991200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:74981200-74991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:74981400-74991600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:74981400-74997600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:74981400-74997800	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:74981400-74997800	Weak transcription	Spleen	Spleen
45	chr5:74981400-74999200	Weak transcription	Fetal Stomach	stomach
46	chr5:74981400-74999600	Weak transcription	Fetal Intestine Small	intestine
47	chr5:74981400-75002600	Weak transcription	Pancreas	Pancrea
48	chr5:74983200-74990600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:74983200-74991400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:74983200-74992400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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