Variant report

Variant	rs11572050
Chromosome Location	chr6:44413662-44413663
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44405048..44409188-chr6:44409781..44413783,5	K562	blood:
2	chr6:44410364..44415906-chr6:44416897..44422592,7	K562	blood:
3	chr6:44279048..44280754-chr6:44413022..44414721,2	MCF-7	breast:
4	chr6:44412103..44413730-chr6:44418202..44421080,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11571967	0.87[AFR][1000 genomes]
rs11571981	0.87[AFR][1000 genomes]
rs11571986	0.87[AFR][1000 genomes]
rs11572001	0.87[AFR][1000 genomes]
rs11572004	0.87[AFR][1000 genomes]
rs11572013	0.87[AFR][1000 genomes]
rs11572017	0.87[AFR][1000 genomes]
rs11572023	0.87[AFR][1000 genomes]
rs11572033	0.87[AFR][1000 genomes]
rs11572036	0.87[AFR][1000 genomes]
rs11572044	0.87[AFR][1000 genomes]
rs11572049	1.00[AFR][1000 genomes]
rs11572061	0.82[AFR][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	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv885858	chr6:44385441-44421240	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv885859	chr6:44385441-44422466	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv517370	chr6:44385441-44422689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1850024	chr6:44388505-44422689	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:44388400-44424400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:44390200-44420200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:44396600-44432800	Weak transcription	Fetal Kidney	kidney
5	chr6:44398400-44415400	Weak transcription	Small Intestine	intestine
6	chr6:44398600-44419600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:44402200-44414400	Weak transcription	NH-A	brain
8	chr6:44407400-44414000	Weak transcription	HSMM	muscle
9	chr6:44407600-44413800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:44407600-44414000	Weak transcription	HMEC	breast
11	chr6:44407800-44413800	Weak transcription	Osteobl	bone
12	chr6:44407800-44416200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:44407800-44419800	Weak transcription	HSMMtube	muscle
14	chr6:44408000-44413800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:44409200-44416400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:44410000-44416600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:44410000-44424400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:44410000-44424400	Weak transcription	Colonic Mucosa	Colon
19	chr6:44410000-44424400	Weak transcription	Spleen	Spleen
20	chr6:44410200-44413800	Weak transcription	A549	lung
21	chr6:44410200-44417200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr6:44410200-44422200	Weak transcription	Fetal Brain Male	brain
23	chr6:44410600-44416000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:44410800-44414400	Strong transcription	Primary T cells from cord blood	blood
25	chr6:44411000-44413800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:44411000-44416200	Strong transcription	Fetal Thymus	thymus
27	chr6:44411200-44416000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:44411200-44416400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:44411400-44413800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:44411400-44416000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:44411400-44416200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr6:44411400-44416200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr6:44411400-44416600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:44411400-44417200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:44411400-44417200	Strong transcription	Dnd41	blood
36	chr6:44411400-44417800	Strong transcription	Fetal Intestine Large	intestine
37	chr6:44411600-44414200	Strong transcription	Thymus	Thymus
38	chr6:44411600-44414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:44411600-44414600	Strong transcription	GM12878-XiMat	blood
40	chr6:44411600-44416200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:44411600-44416800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:44411600-44417200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:44411600-44417200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr6:44411800-44414000	Strong transcription	Brain Germinal Matrix	brain
45	chr6:44411800-44414200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:44411800-44414600	Strong transcription	Brain Substantia Nigra	brain
47	chr6:44411800-44417200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:44411800-44417200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:44411800-44418400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:44412000-44413800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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