Variant report

Variant	rs8105478
Chromosome Location	chr19:40836166-40836167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40831185..40834096-chr19:40834501..40837244,2	MCF-7	breast:
2	chr19:40833480..40835017-chr19:40835815..40837638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11666690	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11666860	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11667443	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11667768	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11667774	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11668006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668520	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11669006	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11669332	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11670323	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670912	0.80[EUR][1000 genomes]
rs11671439	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2356230	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35090721	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45441197	0.87[ASN][1000 genomes]
rs45497695	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56672337	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59058760	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59106111	0.87[EUR][1000 genomes]
rs6508937	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66623822	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67587726	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7245751	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247515	0.86[AMR][1000 genomes]
rs7249819	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7252506	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73933232	0.82[EUR][1000 genomes]
rs73933236	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73933237	0.88[EUR][1000 genomes]
rs73933238	0.87[EUR][1000 genomes]
rs73933240	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73933241	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs873143	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS 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 miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 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	chr19:40820800-40848400	Strong transcription	Dnd41	blood
2	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:40822000-40842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:40822000-40843400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
6	chr19:40822200-40842400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:40822200-40842600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:40822200-40843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
10	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr19:40823400-40842400	Strong transcription	Fetal Brain Female	brain
12	chr19:40823400-40845400	Strong transcription	Thymus	Thymus
13	chr19:40824000-40839400	Strong transcription	NHLF	lung
14	chr19:40824000-40842200	Strong transcription	Liver	Liver
15	chr19:40824000-40842400	Strong transcription	Brain Germinal Matrix	brain
16	chr19:40824000-40842600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr19:40824400-40843000	Strong transcription	Fetal Thymus	thymus
21	chr19:40825200-40836800	Weak transcription	Stomach Mucosa	stomach
22	chr19:40825200-40842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:40825400-40842600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr19:40825600-40842200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:40825600-40842400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:40825800-40837400	Strong transcription	Colonic Mucosa	Colon
27	chr19:40825800-40838600	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:40825800-40841600	Strong transcription	Right Ventricle	heart
29	chr19:40825800-40842200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:40825800-40842200	Strong transcription	Adipose Nuclei	Adipose
31	chr19:40825800-40842400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:40825800-40842400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:40825800-40842400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:40825800-40842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:40825800-40842600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:40825800-40845400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr19:40826000-40840200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr19:40826000-40840600	Strong transcription	HSMMtube	muscle
39	chr19:40826000-40842200	Strong transcription	Gastric	stomach
40	chr19:40826000-40842400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:40826000-40842400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:40826000-40842400	Strong transcription	Fetal Intestine Large	intestine
43	chr19:40826000-40842400	Strong transcription	Left Ventricle	heart
44	chr19:40826000-40842400	Strong transcription	Ovary	ovary
45	chr19:40826400-40840200	Strong transcription	Brain Angular Gyrus	brain
46	chr19:40826400-40842200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:40826400-40842400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:40826400-40843000	Strong transcription	Primary T cells from cord blood	blood
49	chr19:40826400-40847400	Weak transcription	Right Atrium	heart
50	chr19:40826600-40836200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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