Variant report

Variant	rs72935251
Chromosome Location	chr18:9145078-9145079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9142518..9147121-chr18:9149107..9151760,6	K562	blood:
2	chr18:9012557..9014644-chr18:9143805..9146448,2	K562	blood:
3	chr18:9143953..9145593-chr18:9149699..9152459,2	MCF-7	breast:
4	chr18:9143163..9146307-chr18:9148846..9151084,3	K562	blood:
5	chr18:9101542..9104099-chr18:9143850..9147103,3	K562	blood:
6	chr18:9017215..9020121-chr18:9143322..9145391,2	K562	blood:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000242058	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1046483	0.82[EUR][1000 genomes]
rs10502391	0.82[EUR][1000 genomes]
rs12326829	0.82[EUR][1000 genomes]
rs1443597	0.82[EUR][1000 genomes]
rs16954886	0.82[EUR][1000 genomes]
rs16954905	0.82[EUR][1000 genomes]
rs17413344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17497377	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17498752	0.82[EUR][1000 genomes]
rs17498969	0.82[EUR][1000 genomes]
rs17499116	0.82[EUR][1000 genomes]
rs1899668	0.82[EUR][1000 genomes]
rs2120316	0.82[EUR][1000 genomes]
rs2298548	0.80[EUR][1000 genomes]
rs2377962	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28520663	0.82[EUR][1000 genomes]
rs28578690	0.85[ASN][1000 genomes]
rs28619483	0.82[EUR][1000 genomes]
rs2864515	0.82[EUR][1000 genomes]
rs3213925	0.82[EUR][1000 genomes]
rs3744822	0.82[EUR][1000 genomes]
rs3744823	0.82[EUR][1000 genomes]
rs4356535	0.82[EUR][1000 genomes]
rs4449017	0.82[EUR][1000 genomes]
rs4490062	0.82[EUR][1000 genomes]
rs5011606	0.82[EUR][1000 genomes]
rs56996721	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs57716132	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58350342	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59018067	0.82[EUR][1000 genomes]
rs59616258	0.82[EUR][1000 genomes]
rs59633812	0.82[EUR][1000 genomes]
rs59983698	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60119987	0.82[EUR][1000 genomes]
rs60143204	0.86[EUR][1000 genomes]
rs60354371	0.82[EUR][1000 genomes]
rs7229105	0.86[EUR][1000 genomes]
rs7235358	0.82[EUR][1000 genomes]
rs72935229	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935253	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935260	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935265	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935267	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935274	0.89[EUR][1000 genomes]
rs72937244	0.86[EUR][1000 genomes]
rs72937245	0.86[EUR][1000 genomes]
rs72937248	0.86[EUR][1000 genomes]
rs72937250	0.86[EUR][1000 genomes]
rs72937257	0.82[EUR][1000 genomes]
rs72937258	0.82[EUR][1000 genomes]
rs72937259	0.82[EUR][1000 genomes]
rs72937263	0.82[EUR][1000 genomes]
rs72937267	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72937270	0.82[EUR][1000 genomes]
rs72937287	0.82[EUR][1000 genomes]
rs72937291	0.82[EUR][1000 genomes]
rs72937297	0.82[EUR][1000 genomes]
rs72937301	0.82[EUR][1000 genomes]
rs72939207	0.82[EUR][1000 genomes]
rs72939211	0.82[EUR][1000 genomes]
rs72939216	0.84[AFR][1000 genomes]
rs72939219	0.82[EUR][1000 genomes]
rs72939220	0.82[EUR][1000 genomes]
rs72939221	0.82[EUR][1000 genomes]
rs72939224	0.82[EUR][1000 genomes]
rs72939227	0.82[EUR][1000 genomes]
rs72939230	0.82[EUR][1000 genomes]
rs72939231	0.82[EUR][1000 genomes]
rs72939232	0.82[EUR][1000 genomes]
rs72939235	0.82[EUR][1000 genomes]
rs72939239	0.82[EUR][1000 genomes]
rs7506375	0.82[EUR][1000 genomes]
rs7506561	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8094979	0.89[EUR][1000 genomes]
rs8098544	0.82[EUR][1000 genomes]
rs9652921	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9675513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9748485	0.82[EUR][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9138200-9162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:9138600-9145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:9138600-9146200	Weak transcription	Esophagus	oesophagus
4	chr18:9138600-9147800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:9138600-9148000	Weak transcription	Fetal Thymus	thymus
6	chr18:9138600-9148800	Weak transcription	Gastric	stomach
7	chr18:9138600-9154200	Weak transcription	Lung	lung
8	chr18:9138600-9156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:9138800-9146200	Weak transcription	Ovary	ovary
10	chr18:9138800-9147400	Weak transcription	Fetal Stomach	stomach
11	chr18:9138800-9147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:9138800-9150000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:9138800-9150400	Enhancers	Primary B cells from peripheral blood	blood
14	chr18:9139200-9145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:9139400-9147800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:9140000-9146400	Weak transcription	Aorta	Aorta
17	chr18:9140000-9151600	Weak transcription	Right Ventricle	heart
18	chr18:9140000-9162000	Weak transcription	Thymus	Thymus
19	chr18:9140000-9163000	Weak transcription	Fetal Intestine Large	intestine
20	chr18:9140200-9145200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:9140200-9146400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:9140200-9148400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr18:9140200-9155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:9140400-9146400	Weak transcription	Colonic Mucosa	Colon
25	chr18:9140600-9147600	Weak transcription	Fetal Kidney	kidney
26	chr18:9140600-9148200	Weak transcription	Fetal Brain Male	brain
27	chr18:9140800-9145200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr18:9140800-9145600	Weak transcription	Right Atrium	heart
29	chr18:9140800-9147200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr18:9140800-9147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:9140800-9160200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr18:9141000-9147000	Enhancers	Small Intestine	intestine
33	chr18:9141200-9147200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr18:9141200-9149400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr18:9141400-9146400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:9141400-9146600	Weak transcription	Dnd41	blood
37	chr18:9141600-9153000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr18:9141600-9161000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr18:9142000-9145200	Weak transcription	Fetal Brain Female	brain
40	chr18:9142000-9145200	Weak transcription	NHLF	lung
41	chr18:9142000-9147600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:9142200-9145200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:9142200-9145200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:9142200-9145200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:9142200-9145200	Weak transcription	HMEC	breast
46	chr18:9142200-9146600	Weak transcription	Fetal Lung	lung
47	chr18:9142200-9146800	Weak transcription	Hela-S3	cervix
48	chr18:9142200-9148800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr18:9142400-9145200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:9142400-9145200	Weak transcription	Brain Angular Gyrus	brain

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