Variant report

Variant	rs72935248
Chromosome Location	chr18:9143266-9143267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9142397..9144914-chr18:9146594..9148410,2	K562	blood:
2	chr18:9142518..9147121-chr18:9149107..9151760,6	K562	blood:
3	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
4	chr18:9143163..9146307-chr18:9148846..9151084,3	K562	blood:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction
ENSG00000265257	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17497377	0.80[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	0.90[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	0.90[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	0.90[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	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935236	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935251	0.90[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	0.90[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	0.80[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]
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	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8094979	0.89[EUR][1000 genomes]
rs8098544	0.82[EUR][1000 genomes]
rs9652921	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9675513	0.90[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:6 , 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

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	chr18:9138600-9143400	Weak transcription	Pancreas	Pancrea
3	chr18:9138600-9143600	Weak transcription	Spleen	Spleen
4	chr18:9138600-9145000	Weak transcription	Left Ventricle	heart
5	chr18:9138600-9145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:9138600-9146200	Weak transcription	Esophagus	oesophagus
7	chr18:9138600-9147800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:9138600-9148000	Weak transcription	Fetal Thymus	thymus
9	chr18:9138600-9148800	Weak transcription	Gastric	stomach
10	chr18:9138600-9154200	Weak transcription	Lung	lung
11	chr18:9138600-9156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:9138800-9146200	Weak transcription	Ovary	ovary
13	chr18:9138800-9147400	Weak transcription	Fetal Stomach	stomach
14	chr18:9138800-9147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr18:9138800-9150000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:9138800-9150400	Enhancers	Primary B cells from peripheral blood	blood
17	chr18:9139000-9143400	Weak transcription	Fetal Intestine Small	intestine
18	chr18:9139200-9145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:9139400-9147800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:9140000-9146400	Weak transcription	Aorta	Aorta
21	chr18:9140000-9151600	Weak transcription	Right Ventricle	heart
22	chr18:9140000-9162000	Weak transcription	Thymus	Thymus
23	chr18:9140000-9163000	Weak transcription	Fetal Intestine Large	intestine
24	chr18:9140200-9143600	Enhancers	Colon Smooth Muscle	Colon
25	chr18:9140200-9145200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:9140200-9146400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:9140200-9148400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr18:9140200-9155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:9140400-9143400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr18:9140400-9143400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:9140400-9143800	Enhancers	Adipose Nuclei	Adipose
32	chr18:9140400-9143800	Weak transcription	Brain Germinal Matrix	brain
33	chr18:9140400-9146400	Weak transcription	Colonic Mucosa	Colon
34	chr18:9140600-9143800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr18:9140600-9144400	Enhancers	Primary T cells from cord blood	blood
36	chr18:9140600-9147600	Weak transcription	Fetal Kidney	kidney
37	chr18:9140600-9148200	Weak transcription	Fetal Brain Male	brain
38	chr18:9140800-9143600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:9140800-9145200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr18:9140800-9145600	Weak transcription	Right Atrium	heart
41	chr18:9140800-9147200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr18:9140800-9147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:9140800-9160200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr18:9141000-9143400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr18:9141000-9143400	Weak transcription	HUVEC	blood vessel
46	chr18:9141000-9143600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr18:9141000-9143800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:9141000-9143800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr18:9141000-9147000	Enhancers	Small Intestine	intestine
50	chr18:9141200-9143800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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