Variant report

Variant	rs8113411
Chromosome Location	chr19:38493612-38493613
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38487801..38491019-chr19:38493039..38496104,5	MCF-7	breast:
2	chr19:38483729..38485746-chr19:38492627..38494202,2	MCF-7	breast:
3	chr19:38486249..38487777-chr19:38491320..38494076,2	K562	blood:
4	chr19:38397211..38400435-chr19:38493198..38497006,5	MCF-7	breast:
5	chr19:38490534..38492091-chr19:38493465..38495322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11879553	1.00[EUR][1000 genomes]
rs11881136	1.00[EUR][1000 genomes]
rs11881503	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35447904	1.00[EUR][1000 genomes]
rs56140434	1.00[EUR][1000 genomes]
rs56880853	0.81[AFR][1000 genomes]
rs57771568	1.00[EUR][1000 genomes]
rs57910731	1.00[EUR][1000 genomes]
rs58512019	1.00[EUR][1000 genomes]
rs705490	1.00[EUR][1000 genomes]
rs705498	1.00[EUR][1000 genomes]
rs7248658	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257055	1.00[EUR][1000 genomes]
rs7257668	1.00[EUR][1000 genomes]
rs73627652	1.00[EUR][1000 genomes]
rs73628610	0.90[AMR][1000 genomes]
rs73628634	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73628691	0.90[AMR][1000 genomes]
rs8100641	1.00[EUR][1000 genomes]
rs8100668	1.00[EUR][1000 genomes]
rs8101927	1.00[EUR][1000 genomes]
rs8104392	1.00[EUR][1000 genomes]
rs8105848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8105919	1.00[EUR][1000 genomes]
rs8112492	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112893	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38470800-38494000	Weak transcription	Right Ventricle	heart
2	chr19:38471200-38493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:38472400-38493800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:38474800-38513600	Weak transcription	Gastric	stomach
5	chr19:38477600-38493800	Weak transcription	Thymus	Thymus
6	chr19:38479200-38493800	Weak transcription	Colonic Mucosa	Colon
7	chr19:38480000-38493800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:38481000-38493800	Weak transcription	Small Intestine	intestine
9	chr19:38482200-38493800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:38482400-38493800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:38482400-38493800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:38482600-38493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:38482600-38494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:38482600-38494000	Weak transcription	Esophagus	oesophagus
15	chr19:38484600-38493800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:38485600-38493800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:38485800-38493800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:38485800-38496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:38486400-38493800	Weak transcription	Fetal Intestine Large	intestine
20	chr19:38488400-38493800	Enhancers	Primary B cells from peripheral blood	blood
21	chr19:38489000-38493800	Weak transcription	Brain Anterior Caudate	brain
22	chr19:38489000-38493800	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:38489200-38493800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:38490200-38493800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:38490200-38493800	Enhancers	HUVEC	blood vessel
26	chr19:38490400-38493800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr19:38490400-38493800	Weak transcription	Brain Substantia Nigra	brain
28	chr19:38490400-38493800	Weak transcription	Right Atrium	heart
29	chr19:38490400-38495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:38490600-38493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:38490600-38493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:38490600-38493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:38490600-38493800	Weak transcription	Placenta	Placenta
34	chr19:38490600-38493800	Weak transcription	Spleen	Spleen
35	chr19:38490600-38493800	Enhancers	NHDF-Ad	bronchial
36	chr19:38490600-38494000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:38490800-38493800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:38490800-38493800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:38490800-38493800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:38490800-38493800	Weak transcription	HSMMtube	muscle
41	chr19:38491200-38493800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr19:38491400-38493800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:38491400-38493800	Weak transcription	HSMM	muscle
44	chr19:38491400-38493800	Weak transcription	NHLF	lung
45	chr19:38492000-38493800	Strong transcription	Fetal Intestine Small	intestine
46	chr19:38492200-38493800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:38492200-38493800	Weak transcription	NHEK	skin
48	chr19:38492400-38493800	Weak transcription	Dnd41	blood
49	chr19:38492400-38493800	Weak transcription	HMEC	breast
50	chr19:38492400-38494000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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