Variant report

Variant	rs11670295
Chromosome Location	chr19:40874135-40874136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40872773..40875279-chr19:40947114..40949587,2	MCF-7	breast:
2	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:
3	chr19:40871827..40874303-chr19:40947667..40950023,2	MCF-7	breast:
4	chr19:40871826..40875683-chr19:40883249..40885550,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268366	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000105223	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11669391	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11672825	0.85[ASN][1000 genomes]
rs3745198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3745199	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802076	0.82[AFR][1000 genomes]
rs4803328	0.90[AFR][1000 genomes]
rs62107636	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	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	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
3	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
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855600-40875800	Weak transcription	HSMMtube	muscle
2	chr19:40864000-40884400	Weak transcription	HepG2	liver
3	chr19:40866000-40877600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:40869400-40878800	Weak transcription	HSMM	muscle
5	chr19:40869800-40880200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:40871400-40878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:40871400-40880400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:40871600-40880800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:40871600-40881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:40872000-40877000	Weak transcription	Small Intestine	intestine
11	chr19:40872000-40878800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:40872000-40880200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:40872200-40876800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr19:40872200-40880400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr19:40872200-40880800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:40872200-40880800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr19:40872200-40881600	Weak transcription	GM12878-XiMat	blood
18	chr19:40872200-40887000	Strong transcription	Liver	Liver
19	chr19:40872200-40887400	Weak transcription	Primary B cells from cord blood	blood
20	chr19:40872200-40887400	Weak transcription	Stomach Mucosa	stomach
21	chr19:40872400-40874400	Strong transcription	Thymus	Thymus
22	chr19:40872400-40875200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:40872400-40876600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:40872400-40877200	Weak transcription	NHEK	skin
25	chr19:40872400-40878000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr19:40872400-40880400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:40872400-40880400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:40872400-40881200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:40872400-40881400	Strong transcription	Ovary	ovary
30	chr19:40872400-40885600	Weak transcription	NHDF-Ad	bronchial
31	chr19:40872400-40886200	Weak transcription	HUVEC	blood vessel
32	chr19:40872600-40874200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr19:40872600-40874200	Strong transcription	Esophagus	oesophagus
34	chr19:40872600-40874200	Strong transcription	Rectal Smooth Muscle	rectum
35	chr19:40872600-40874400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:40872600-40874400	Strong transcription	Gastric	stomach
37	chr19:40872600-40875600	Genic enhancers	Fetal Muscle Leg	muscle
38	chr19:40872600-40876200	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr19:40872600-40876200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:40872600-40876800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:40872600-40878200	Strong transcription	Right Ventricle	heart
42	chr19:40872600-40878400	Strong transcription	NHLF	lung
43	chr19:40872600-40880600	Strong transcription	Colon Smooth Muscle	Colon
44	chr19:40872600-40880800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:40872600-40883000	Strong transcription	Osteobl	bone
46	chr19:40872600-40884400	Strong transcription	Adipose Nuclei	Adipose
47	chr19:40872800-40874200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:40872800-40874800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:40872800-40875600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:40872800-40879400	Weak transcription	Fetal Thymus	thymus

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