Variant report

Variant	rs28490449
Chromosome Location	chr6:11322971-11322972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11319797..11323396-chr6:11323814..11327323,3	K562	blood:
2	chr6:11316054..11319968-chr6:11321343..11323554,3	MCF-7	breast:
3	chr6:11321749..11324194-chr6:11324346..11326664,2	MCF-7	breast:
4	chr6:11230728..11233770-chr6:11322053..11325957,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16871271	1.00[EUR][1000 genomes]
rs56164686	0.94[EUR][1000 genomes]
rs56817967	0.88[EUR][1000 genomes]
rs57614751	0.88[EUR][1000 genomes]
rs59205227	0.88[EUR][1000 genomes]
rs60511959	1.00[EUR][1000 genomes]
rs6903357	1.00[EUR][1000 genomes]
rs6904814	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6918108	1.00[EUR][1000 genomes]
rs73362879	0.88[EUR][1000 genomes]
rs73721557	0.88[EUR][1000 genomes]
rs9468863	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11306400-11326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:11310800-11323000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:11311000-11323800	Weak transcription	Fetal Thymus	thymus
4	chr6:11316200-11329800	Weak transcription	Right Atrium	heart
5	chr6:11317400-11324600	Weak transcription	Thymus	Thymus
6	chr6:11318400-11323800	Weak transcription	Aorta	Aorta
7	chr6:11319000-11323400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:11319000-11324000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:11319400-11324800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:11319400-11330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:11319600-11324400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:11319600-11328000	Weak transcription	Small Intestine	intestine
13	chr6:11319600-11328200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:11319600-11330000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:11319600-11330400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:11319800-11323400	Weak transcription	Adipose Nuclei	Adipose
17	chr6:11319800-11328800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:11319800-11330600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:11319800-11330800	Weak transcription	Fetal Stomach	stomach
20	chr6:11320000-11323200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:11320000-11323600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:11320000-11324200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:11320000-11324800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:11320000-11328400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:11320000-11329800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr6:11320000-11330200	Weak transcription	Gastric	stomach
27	chr6:11320000-11330600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:11320200-11323200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:11320200-11323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:11320200-11324200	Weak transcription	Spleen	Spleen
31	chr6:11320200-11324400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:11320200-11327400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:11320200-11328000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:11320200-11329600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:11320200-11329800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:11320200-11330600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:11320400-11323600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:11320400-11323600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:11320400-11324800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:11320400-11329000	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:11320400-11329400	Weak transcription	Pancreas	Pancrea
42	chr6:11320800-11323600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:11321400-11324400	Strong transcription	Primary T cells from cord blood	blood
44	chr6:11321400-11325200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:11321600-11325200	Enhancers	A549	lung
46	chr6:11321800-11324400	Weak transcription	Fetal Kidney	kidney
47	chr6:11322000-11324600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:11322200-11323400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr6:11322200-11323400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:11322400-11323000	Enhancers	NH-A	brain

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