Variant report

Variant	rs2270092
Chromosome Location	chr19:38833634-38833635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38833439..38835200-chr19:38870753..38873004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1060454	0.92[ASN][1000 genomes]
rs2286548	0.92[ASN][1000 genomes]
rs2302185	0.84[ASN][1000 genomes]
rs2302187	0.92[ASN][1000 genomes]
rs3745953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3745963	0.82[JPT][hapmap]
rs3760884	0.82[JPT][hapmap]
rs3786880	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3786881	0.92[ASN][1000 genomes]
rs3786882	0.92[ASN][1000 genomes]
rs73043012	1.00[ASN][1000 genomes]
rs73043013	1.00[ASN][1000 genomes]
rs73043014	1.00[ASN][1000 genomes]
rs73043015	1.00[ASN][1000 genomes]
rs73043027	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828000-38834600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:38828000-38838400	Weak transcription	HSMMtube	muscle
3	chr19:38828200-38833800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:38828200-38834000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:38828200-38834000	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:38828200-38834600	Weak transcription	Gastric	stomach
7	chr19:38828200-38834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:38828200-38836400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:38828200-38836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:38828200-38836800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:38828200-38837000	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:38828200-38837400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:38828200-38838000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:38828200-38838200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:38828200-38838400	Weak transcription	Colonic Mucosa	Colon
16	chr19:38828200-38838400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:38828200-38839000	Weak transcription	Brain Anterior Caudate	brain
18	chr19:38828200-38840400	Weak transcription	Left Ventricle	heart
19	chr19:38828200-38841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:38828200-38842000	Weak transcription	Brain Angular Gyrus	brain
21	chr19:38828200-38842600	Weak transcription	Esophagus	oesophagus
22	chr19:38828200-38844800	Weak transcription	Brain Substantia Nigra	brain
23	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
24	chr19:38828400-38834200	Weak transcription	Fetal Brain Male	brain
25	chr19:38828400-38834600	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:38828400-38834800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:38828400-38835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:38828400-38835400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr19:38828400-38836200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:38828400-38836800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:38828400-38837200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr19:38828400-38837800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr19:38828400-38838200	Weak transcription	Adipose Nuclei	Adipose
34	chr19:38828400-38839200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:38828400-38839600	Weak transcription	Primary T cells from cord blood	blood
36	chr19:38828400-38839800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:38828400-38839800	Weak transcription	Right Ventricle	heart
38	chr19:38828400-38840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:38828600-38838800	Weak transcription	Primary B cells from cord blood	blood
40	chr19:38828600-38839000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:38828600-38839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:38828800-38837000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr19:38829000-38838600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:38829400-38834600	Weak transcription	Dnd41	blood
45	chr19:38829400-38834800	Weak transcription	Pancreas	Pancrea
46	chr19:38829400-38835000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:38829400-38836600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:38829400-38839800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr19:38829600-38834000	Weak transcription	Fetal Brain Female	brain
50	chr19:38829600-38839400	Weak transcription	Thymus	Thymus

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