Variant report

Variant	rs2299050
Chromosome Location	chr6:15430548-15430549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15427691..15429702-chr6:15429913..15432106,2	K562	blood:
2	chr6:15426395..15428488-chr6:15429543..15431690,2	MCF-7	breast:
3	chr6:15428361..15431112-chr6:15432614..15434598,3	K562	blood:
4	chr6:15412621..15415523-chr6:15427766..15430879,3	K562	blood:
5	chr6:15424279..15427255-chr6:15429243..15432157,3	K562	blood:
6	chr6:15424906..15426863-chr6:15428621..15431301,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2299044	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15417000-15452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:15421400-15432400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:15421600-15430800	Weak transcription	Aorta	Aorta
4	chr6:15422800-15430800	Weak transcription	Gastric	stomach
5	chr6:15422800-15433400	Weak transcription	Colonic Mucosa	Colon
6	chr6:15423600-15432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:15424200-15430800	Weak transcription	Esophagus	oesophagus
8	chr6:15424600-15442000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:15425600-15445400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:15425800-15437800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:15426000-15432400	Enhancers	Brain Anterior Caudate	brain
12	chr6:15426000-15434000	Enhancers	Brain Cingulate Gyrus	brain
13	chr6:15426000-15435000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:15426000-15441000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:15426400-15440400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:15426400-15442000	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:15426600-15431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:15426600-15434400	Enhancers	Fetal Lung	lung
19	chr6:15426800-15433000	Enhancers	Primary B cells from cord blood	blood
20	chr6:15426800-15434800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:15427000-15433000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:15427000-15450800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:15428000-15430600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:15428000-15430800	Weak transcription	Lung	lung
25	chr6:15428000-15430800	Weak transcription	Pancreas	Pancrea
26	chr6:15428000-15431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:15428000-15431400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:15428000-15431600	Weak transcription	Placenta	Placenta
29	chr6:15428000-15432000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:15428000-15435200	Enhancers	Brain Hippocampus Middle	brain
31	chr6:15428000-15441800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:15428200-15430800	Weak transcription	Small Intestine	intestine
33	chr6:15428200-15431000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:15428200-15431600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:15428200-15431600	Weak transcription	Spleen	Spleen
36	chr6:15428200-15431800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:15428200-15432000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:15428200-15432200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:15428200-15432600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:15428200-15433000	Enhancers	Primary T cells from cord blood	blood
41	chr6:15428400-15430800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:15428400-15430800	Weak transcription	Fetal Kidney	kidney
43	chr6:15428400-15431000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:15428400-15431400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:15428400-15432000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:15428400-15433200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:15428400-15436600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:15428400-15437400	Weak transcription	Dnd41	blood
49	chr6:15428600-15432200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:15428800-15432800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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