Variant report

Variant	rs59444768
Chromosome Location	chr3:112054535-112054536
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:

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]
rs2399422	0.82[ASN][1000 genomes]
rs59251107	1.00[ASN][1000 genomes]
rs72952417	0.90[ASN][1000 genomes]
rs7637088	0.82[ASN][1000 genomes]
rs9843666	0.90[ASN][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112051400-112054600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:112051600-112054800	Active TSS	Brain Cingulate Gyrus	brain
3	chr3:112051800-112055400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:112052600-112062400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:112052600-112066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:112052800-112076200	Weak transcription	Right Ventricle	heart
7	chr3:112053000-112056400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr3:112053000-112057200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:112053200-112054600	Weak transcription	Lung	lung
10	chr3:112053200-112062200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:112053200-112066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:112053200-112076400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:112053400-112054600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:112053400-112055800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:112053400-112057200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:112053400-112057600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:112053600-112054600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:112053600-112054800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:112053600-112056600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr3:112053800-112054600	Enhancers	Fetal Muscle Leg	muscle
21	chr3:112053800-112056200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
22	chr3:112053800-112056200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:112053800-112056800	Weak transcription	HMEC	breast
24	chr3:112053800-112057000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:112053800-112057000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:112053800-112063800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:112053800-112064200	Weak transcription	Fetal Intestine Large	intestine
28	chr3:112054000-112054600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:112054000-112054800	Enhancers	Primary T cells from cord blood	blood
30	chr3:112054000-112054800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:112054000-112055200	Enhancers	Fetal Intestine Small	intestine
32	chr3:112054000-112056400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:112054000-112057200	Enhancers	Adipose Nuclei	Adipose
34	chr3:112054000-112065800	Weak transcription	Fetal Kidney	kidney
35	chr3:112054000-112068600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:112054200-112054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:112054200-112054800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
38	chr3:112054200-112054800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr3:112054200-112054800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr3:112054200-112054800	Genic enhancers	Fetal Thymus	thymus
41	chr3:112054200-112054800	Enhancers	Ovary	ovary
42	chr3:112054200-112054800	Enhancers	Right Atrium	heart
43	chr3:112054200-112054800	Enhancers	Small Intestine	intestine
44	chr3:112054200-112055000	Genic enhancers	H1 Cell Line	embryonic stem cell
45	chr3:112054200-112055000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
46	chr3:112054200-112055000	Flanking Active TSS	Fetal Brain Female	brain
47	chr3:112054200-112055000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr3:112054200-112055200	Weak transcription	Placenta	Placenta
49	chr3:112054200-112055400	Enhancers	Fetal Lung	lung
50	chr3:112054200-112055400	Enhancers	Fetal Stomach	stomach

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