Variant report

Variant	rs10502776
Chromosome Location	chr18:39578277-39578278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:39577574..39581097-chr18:39583166..39586037,3	K562	blood:
2	chr18:39534418..39537159-chr18:39577056..39579376,2	K562	blood:
3	chr18:39533449..39535918-chr18:39576682..39579376,2	K562	blood:

Variant related genes	Relation type
ENSG00000078142	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11082256	0.85[ASN][1000 genomes]
rs12605021	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12606434	0.85[ASN][1000 genomes]
rs12607810	0.84[ASN][1000 genomes]
rs12953847	0.84[ASN][1000 genomes]
rs12956553	0.84[ASN][1000 genomes]
rs12957030	0.84[ASN][1000 genomes]
rs12961563	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs12962602	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs12962732	0.84[ASN][1000 genomes]
rs1544260	0.84[ASN][1000 genomes]
rs16960213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16975441	1.00[CEU][hapmap]
rs16975459	0.84[ASN][1000 genomes]
rs16975462	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28438873	0.83[ASN][1000 genomes]
rs28541909	0.83[ASN][1000 genomes]
rs28708684	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3813065	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs3819162	1.00[ASW][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4121817	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4513183	0.84[ASN][1000 genomes]
rs55971157	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56680148	0.85[ASN][1000 genomes]
rs643772	1.00[CEU][hapmap]
rs659950	1.00[CEU][hapmap]
rs7233661	0.85[ASN][1000 genomes]
rs7237737	0.83[ASN][1000 genomes]
rs7237780	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7237783	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7238178	0.92[ASW][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7239652	0.84[ASN][1000 genomes]
rs7240218	0.84[ASN][1000 genomes]
rs7242727	0.85[ASN][1000 genomes]
rs73454598	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8084037	1.00[CEU][hapmap]
rs8084463	0.82[YRI][hapmap]
rs8087875	0.92[ASW][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs8095411	0.92[ASW][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9949409	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9949895	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9954624	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9956832	1.00[ASW][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9958749	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9964331	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9965466	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9966146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:39545600-39583600	Weak transcription	Small Intestine	intestine
5	chr18:39547600-39580600	Weak transcription	Spleen	Spleen
6	chr18:39548000-39580200	Weak transcription	Pancreas	Pancrea
7	chr18:39548200-39579400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr18:39548200-39580200	Weak transcription	Lung	lung
9	chr18:39548200-39580400	Weak transcription	NHLF	lung
10	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:39549200-39582800	Weak transcription	Psoas Muscle	Psoas
12	chr18:39552800-39580200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:39555200-39580200	Weak transcription	Aorta	Aorta
14	chr18:39558200-39580000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:39558200-39580000	Weak transcription	Fetal Intestine Small	intestine
16	chr18:39558200-39580000	Weak transcription	Fetal Stomach	stomach
17	chr18:39558200-39594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:39558200-39603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr18:39562800-39585600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:39563800-39580400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:39563800-39582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr18:39563800-39583400	Weak transcription	Right Ventricle	heart
23	chr18:39563800-39585200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr18:39564200-39586400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:39564600-39586600	Strong transcription	Primary B cells from cord blood	blood
26	chr18:39564600-39606400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:39565000-39597200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:39565200-39580000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:39565200-39580200	Weak transcription	Thymus	Thymus
30	chr18:39565200-39583600	Weak transcription	Esophagus	oesophagus
31	chr18:39567000-39587200	Strong transcription	Liver	Liver
32	chr18:39568000-39588400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr18:39568000-39588600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr18:39568000-39588800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:39569200-39586400	Strong transcription	Dnd41	blood
36	chr18:39569800-39580400	Weak transcription	Brain Germinal Matrix	brain
37	chr18:39569800-39580400	Weak transcription	Brain Substantia Nigra	brain
38	chr18:39569800-39582400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr18:39570400-39580200	Weak transcription	Gastric	stomach
40	chr18:39570800-39587200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
42	chr18:39573200-39579000	Strong transcription	Brain Anterior Caudate	brain
43	chr18:39573200-39580400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr18:39573200-39585800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:39573200-39588000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:39573200-39588200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:39573200-39592000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr18:39573400-39581000	Strong transcription	Placenta	Placenta
49	chr18:39573400-39586400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:39573400-39586600	Strong transcription	Adipose Nuclei	Adipose

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