Variant report

Variant	rs11572023
Chromosome Location	chr6:44394422-44394423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44392433..44394528-chr6:44420421..44422468,2	K562	blood:
2	chr6:44390273..44393124-chr6:44394241..44396226,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11571890	0.88[AFR][1000 genomes]
rs11571892	0.88[AFR][1000 genomes]
rs11571899	0.88[AFR][1000 genomes]
rs11571902	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11571952	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11571959	0.88[AFR][1000 genomes]
rs11571965	0.88[AFR][1000 genomes]
rs11571966	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11571967	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11571981	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11571986	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11572001	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11572004	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11572013	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11572017	1.00[AFR][1000 genomes]
rs11572033	1.00[AFR][1000 genomes]
rs11572036	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11572044	1.00[AFR][1000 genomes]
rs11572049	0.87[AFR][1000 genomes]
rs11572050	0.87[AFR][1000 genomes]
rs11572061	1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.94[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:44376800-44398200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:44384200-44397600	Weak transcription	Small Intestine	intestine
5	chr6:44384600-44396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:44385000-44397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:44385200-44403200	Weak transcription	Gastric	stomach
8	chr6:44386600-44395400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr6:44386600-44409200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr6:44386800-44395600	Strong transcription	Hela-S3	cervix
11	chr6:44386800-44395800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:44386800-44397800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:44386800-44398800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr6:44386800-44402600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:44386800-44402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:44386800-44402800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:44386800-44404200	Strong transcription	Fetal Thymus	thymus
18	chr6:44386800-44405000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:44386800-44406400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:44386800-44408800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr6:44387000-44394600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:44387000-44394800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:44387000-44394800	Strong transcription	Brain Germinal Matrix	brain
24	chr6:44387000-44394800	Strong transcription	NHDF-Ad	bronchial
25	chr6:44387000-44395200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:44387000-44395200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:44387000-44395200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:44387000-44395200	Strong transcription	NHEK	skin
29	chr6:44387000-44395400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:44387000-44395400	Strong transcription	HUVEC	blood vessel
31	chr6:44387000-44395600	Strong transcription	K562	blood
32	chr6:44387000-44396000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:44387000-44396000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:44387000-44396200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:44387000-44398400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:44387000-44398400	Strong transcription	Primary T cells from cord blood	blood
37	chr6:44387000-44398400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:44387000-44398400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:44387000-44398400	Strong transcription	Fetal Lung	lung
40	chr6:44387000-44398400	Strong transcription	HepG2	liver
41	chr6:44387000-44398600	Strong transcription	Adipose Nuclei	Adipose
42	chr6:44387000-44398800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:44387000-44398800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:44387000-44398800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr6:44387000-44400600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:44387000-44401600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:44387000-44401600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:44387000-44402400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:44387000-44402600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:44387000-44402600	Strong transcription	Placenta	Placenta

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