Variant report

Variant	rs12259547
Chromosome Location	chr10:44069354-44069355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44063474..44065679-chr10:44068799..44071087,3	MCF-7	breast:
2	chr10:44051560..44053366-chr10:44067715..44069779,2	MCF-7	breast:
3	chr10:44068167..44069924-chr10:44136851..44139304,2	MCF-7	breast:
4	chr10:44060724..44063218-chr10:44066954..44069931,3	MCF-7	breast:
5	chr10:44068172..44069784-chr10:44100489..44103269,2	K562	blood:
6	chr10:44068620..44071892-chr10:44099602..44104778,6	MCF-7	breast:
7	chr10:43902074..43907022-chr10:44065945..44069589,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169813	Chromatin interaction
ENSG00000196793	Chromatin interaction
ENSG00000232004	Chromatin interaction
ENSG00000198298	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12251588	0.86[AFR][1000 genomes]
rs12260173	0.86[AFR][1000 genomes]
rs12260245	0.86[AFR][1000 genomes]
rs12261308	0.86[AFR][1000 genomes]
rs12261606	0.86[AFR][1000 genomes]
rs12264152	1.00[AFR][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	esv1798523	chr10:44051698-44070754	Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44055000-44069600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr10:44055400-44070000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:44056200-44069400	Weak transcription	Gastric	stomach
4	chr10:44059600-44069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:44063600-44069600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:44063800-44069400	Weak transcription	Spleen	Spleen
7	chr10:44064800-44069400	Weak transcription	Lung	lung
8	chr10:44065000-44069400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:44066800-44069400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:44067800-44069400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr10:44067800-44069400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:44068200-44070600	Active TSS	Fetal Kidney	kidney
13	chr10:44068400-44069600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:44068600-44069400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:44068600-44069400	Flanking Active TSS	Fetal Brain Female	brain
16	chr10:44068600-44069400	Flanking Active TSS	NHDF-Ad	bronchial
17	chr10:44068800-44069400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:44068800-44069400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr10:44068800-44069400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:44068800-44069400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:44068800-44069400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:44068800-44069400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr10:44068800-44069400	Flanking Active TSS	Fetal Lung	lung
24	chr10:44068800-44069400	Enhancers	Small Intestine	intestine
25	chr10:44068800-44069600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:44068800-44069600	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr10:44068800-44069600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr10:44068800-44069600	Flanking Active TSS	Hela-S3	cervix
29	chr10:44068800-44069800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr10:44068800-44069800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr10:44068800-44070600	Active TSS	NHLF	lung
32	chr10:44069000-44069400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr10:44069000-44069400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:44069000-44069400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:44069000-44069400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:44069000-44069400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr10:44069000-44069400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:44069000-44069400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:44069000-44069400	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr10:44069000-44069400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr10:44069000-44069400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr10:44069000-44069400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr10:44069000-44069400	Enhancers	Placenta	Placenta
44	chr10:44069000-44069400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr10:44069000-44069600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:44069000-44069600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:44069000-44069600	Enhancers	Primary B cells from peripheral blood	blood
48	chr10:44069000-44069600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:44069000-44069600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:44069000-44069600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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