Variant report

Variant	rs10089222
Chromosome Location	chr8:1732224-1732225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1731431..1734296-chr8:1777100..1779564,2	MCF-7	breast:
2	chr8:1727131..1730202-chr8:1731838..1734952,3	K562	blood:
3	chr8:1692732..1694940-chr8:1731254..1732794,2	MCF-7	breast:
4	chr8:1717537..1720996-chr8:1730538..1734244,3	K562	blood:
5	chr8:1730297..1733181-chr8:1733346..1737804,5	K562	blood:
6	chr8:1690830..1693396-chr8:1731671..1734648,2	K562	blood:
7	chr8:1725864..1728236-chr8:1731701..1733830,2	MCF-7	breast:
8	chr8:1731117..1733181-chr8:1735872..1737982,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10097891	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100341	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11136424	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1137514	0.86[AMR][1000 genomes]
rs11778824	0.89[ASN][1000 genomes]
rs13256424	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13540	0.81[ASN][1000 genomes]
rs3812477	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4875806	0.85[ASN][1000 genomes]
rs4875957	0.85[ASN][1000 genomes]
rs4875958	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6558537	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6558538	0.84[ASN][1000 genomes]
rs6982516	0.85[ASN][1000 genomes]
rs6991773	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6991783	0.83[ASN][1000 genomes]
rs6993706	0.85[ASN][1000 genomes]
rs7000162	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7008465	0.82[ASN][1000 genomes]
rs7010616	0.83[ASN][1000 genomes]
rs7013835	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7013841	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7014327	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7014823	0.83[ASN][1000 genomes]
rs7015858	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs730377	0.81[AMR][1000 genomes]
rs7341635	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7461159	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7461600	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7465178	0.82[ASN][1000 genomes]
rs7827009	0.93[ASN][1000 genomes]
rs7827285	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
11	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
15	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
19	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv932825	chr8:1719042-1736355	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10089222	CTD-2336O2.1	cis	Thyroid	GTEx
rs10089222	CTD-2336O2.1	cis	Adipose Subcutaneous	GTEx
rs10089222	CTD-2336O2.1	cis	Nerve Tibial	GTEx
rs10089222	CTD-2336O2.1	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1713400-1735800	Weak transcription	Fetal Brain Male	brain
2	chr8:1718000-1732400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:1718000-1732800	Weak transcription	Fetal Heart	heart
4	chr8:1718000-1736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1718400-1733200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:1721400-1733800	Weak transcription	Hela-S3	cervix
7	chr8:1721600-1732800	Weak transcription	Right Atrium	heart
8	chr8:1721600-1734200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:1721800-1734000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:1722000-1734000	Weak transcription	Ovary	ovary
11	chr8:1722200-1734400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:1722800-1734200	Weak transcription	Colonic Mucosa	Colon
13	chr8:1724800-1733200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:1725600-1734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:1726800-1734000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:1728000-1735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:1728000-1736000	Weak transcription	Psoas Muscle	Psoas
18	chr8:1728200-1732800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:1728200-1733400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:1728200-1735400	Weak transcription	Small Intestine	intestine
21	chr8:1728200-1735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:1728400-1732800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:1728400-1733400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:1728800-1733400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:1728800-1734000	Weak transcription	NH-A	brain
26	chr8:1728800-1734000	Weak transcription	NHLF	lung
27	chr8:1729000-1733400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:1729000-1735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:1729200-1732600	Strong transcription	Adipose Nuclei	Adipose
30	chr8:1729200-1733000	Strong transcription	Fetal Stomach	stomach
31	chr8:1729400-1734200	Weak transcription	Stomach Mucosa	stomach
32	chr8:1729400-1734800	Weak transcription	Fetal Kidney	kidney
33	chr8:1729600-1732800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:1729600-1733000	Strong transcription	Fetal Intestine Small	intestine
35	chr8:1729800-1732800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr8:1729800-1735000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:1730000-1733000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr8:1730000-1733200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:1730000-1734800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:1730000-1735000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:1730000-1735000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:1730000-1735600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:1730200-1733200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:1730200-1733400	Strong transcription	Spleen	Spleen
45	chr8:1730200-1735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:1730400-1732400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:1730400-1732400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:1730600-1732800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:1731000-1736200	Weak transcription	GM12878-XiMat	blood
50	chr8:1731200-1732600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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