Variant report

Variant	rs2399415
Chromosome Location	chr3:112053751-112053752
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	chr3:112050155..112051724-chr3:112053726..112056411,2	MCF-7	breast:
2	chr3:112052345..112054034-chr3:112155349..112157049,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091972	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1317244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59495246	0.90[ASN][1000 genomes]
rs61651681	0.90[ASN][1000 genomes]
rs73856005	0.92[ASN][1000 genomes]
rs9842650	0.98[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	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112050600-112054200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr3:112050800-112054200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr3:112051000-112053800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:112051000-112054000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:112051000-112054200	Active TSS	Placenta	Placenta
6	chr3:112051400-112054200	Active TSS	Fetal Brain Female	brain
7	chr3:112051400-112054200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr3:112051400-112054400	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr3:112051400-112054400	Active TSS	GM12878-XiMat	blood
10	chr3:112051400-112054600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:112051600-112053800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:112051600-112053800	Active TSS	Fetal Intestine Small	intestine
13	chr3:112051600-112054000	Active TSS	Aorta	Aorta
14	chr3:112051600-112054000	Active TSS	Fetal Kidney	kidney
15	chr3:112051600-112054000	Active TSS	Fetal Lung	lung
16	chr3:112051600-112054000	Active TSS	Ovary	ovary
17	chr3:112051600-112054200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:112051600-112054200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:112051600-112054200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr3:112051600-112054200	Active TSS	Thymus	Thymus
21	chr3:112051600-112054400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:112051600-112054400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr3:112051600-112054400	Active TSS	Brain Angular Gyrus	brain
24	chr3:112051600-112054400	Active TSS	Brain Hippocampus Middle	brain
25	chr3:112051600-112054400	Active TSS	Rectal Smooth Muscle	rectum
26	chr3:112051600-112054800	Active TSS	Brain Cingulate Gyrus	brain
27	chr3:112051800-112053800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:112051800-112053800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:112051800-112053800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr3:112051800-112055400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:112052000-112053800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:112052200-112053800	Active TSS	Duodenum Mucosa	Duodenum
33	chr3:112052200-112053800	Active TSS	Fetal Muscle Leg	muscle
34	chr3:112052400-112054200	Active TSS	Right Atrium	heart
35	chr3:112052600-112053800	Active TSS	Fetal Stomach	stomach
36	chr3:112052600-112054200	Active TSS	Fetal Muscle Trunk	muscle
37	chr3:112052600-112062400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:112052600-112066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:112052800-112054000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:112052800-112054400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:112052800-112076200	Weak transcription	Right Ventricle	heart
42	chr3:112053000-112054000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr3:112053000-112054200	Active TSS	Brain Germinal Matrix	brain
44	chr3:112053000-112056400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
45	chr3:112053000-112057200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:112053200-112053800	Active TSS	Fetal Intestine Large	intestine
47	chr3:112053200-112054200	Weak transcription	Small Intestine	intestine
48	chr3:112053200-112054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:112053200-112054400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:112053200-112054600	Weak transcription	Lung	lung

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