Variant report

Variant	rs72888285
Chromosome Location	chr2:47749173-47749174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47747881..47749492-chr2:47759888..47761695,2	MCF-7	breast:
2	chr2:47748123..47749357-chr2:47994786..47995698,3	MCF-7	breast:
3	chr2:47742968..47745561-chr2:47746454..47749350,4	MCF-7	breast:
4	chr2:47740431..47742098-chr2:47747533..47749204,2	MCF-7	breast:
5	chr2:47748591..47751031-chr2:47755310..47758617,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13384795	1.00[EUR][1000 genomes]
rs17217905	1.00[EUR][1000 genomes]
rs17224451	1.00[EUR][1000 genomes]
rs72872828	1.00[EUR][1000 genomes]
rs73927790	1.00[EUR][1000 genomes]
rs73929210	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47744800-47752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:47745200-47749400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:47747600-47749200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:47747800-47749200	Active TSS	Brain Anterior Caudate	brain
6	chr2:47747800-47749200	Active TSS	Brain Cingulate Gyrus	brain
7	chr2:47747800-47755400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:47748200-47749200	Active TSS	Brain Hippocampus Middle	brain
9	chr2:47748400-47749200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:47748400-47749200	Flanking Active TSS	Fetal Brain Female	brain
11	chr2:47748600-47749200	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr2:47748800-47749200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:47748800-47749200	Flanking Active TSS	Thymus	Thymus
14	chr2:47748800-47749400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:47748800-47749400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr2:47748800-47749400	Enhancers	Fetal Brain Male	brain
17	chr2:47748800-47749400	Enhancers	Dnd41	blood
18	chr2:47748800-47749600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr2:47748800-47755200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:47748800-47755600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:47748800-47757200	Weak transcription	Right Atrium	heart
22	chr2:47748800-47761000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:47748800-47772800	Weak transcription	Gastric	stomach
24	chr2:47749000-47749200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:47749000-47749200	Enhancers	Primary B cells from cord blood	blood
26	chr2:47749000-47749200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:47749000-47749200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:47749000-47749200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:47749000-47749200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr2:47749000-47749200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:47749000-47749200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:47749000-47749200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:47749000-47749200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:47749000-47749200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:47749000-47749200	Enhancers	Adipose Nuclei	Adipose
36	chr2:47749000-47749200	Active TSS	Colonic Mucosa	Colon
37	chr2:47749000-47749200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr2:47749000-47749400	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:47749000-47749400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:47749000-47749400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:47749000-47749400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:47749000-47749400	Enhancers	GM12878-XiMat	blood
43	chr2:47749000-47751000	Enhancers	Fetal Thymus	thymus
44	chr2:47749000-47752400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:47749000-47752400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:47749000-47755000	Weak transcription	Brain Angular Gyrus	brain
47	chr2:47749000-47761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:47749000-47771000	Weak transcription	Ovary	ovary

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