Variant report

Variant	rs12665622
Chromosome Location	chr6:45447866-45447867
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	chr6:45443101..45446352-chr6:45446405..45450040,4	K562	blood:

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

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

rs_ID	r²[population]
rs12665523	1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes]
rs16873429	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16873437	1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2790102	0.81[CHD][hapmap]
rs2820339	0.81[CHD][hapmap]
rs6905689	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73441957	0.92[ASN][1000 genomes]
rs73448153	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73448156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73448159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73448164	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7751050	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:45419200-45456200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:45423000-45454400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:45440600-45448200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:45441400-45448200	Weak transcription	Small Intestine	intestine
6	chr6:45442600-45448200	Weak transcription	Fetal Lung	lung
7	chr6:45444000-45448200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:45444200-45448200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:45444800-45448800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:45444800-45449000	Enhancers	NHEK	skin
11	chr6:45445000-45448200	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:45445000-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:45445200-45448200	Weak transcription	Brain Anterior Caudate	brain
14	chr6:45445200-45448600	Genic enhancers	Primary hematopoietic stem cells	blood
15	chr6:45445400-45448200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:45445600-45448200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:45445800-45448200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:45445800-45448200	Weak transcription	Esophagus	oesophagus
19	chr6:45445800-45448200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:45445800-45455400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:45445800-45457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:45446000-45448200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:45446000-45449000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:45446400-45448200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:45446400-45448200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:45446400-45454000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:45446400-45455200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:45446600-45448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:45446600-45448000	Strong transcription	HSMM	muscle
30	chr6:45446600-45448000	Weak transcription	NHLF	lung
31	chr6:45446600-45448200	Weak transcription	Hela-S3	cervix
32	chr6:45446800-45448200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:45446800-45448200	Weak transcription	HSMMtube	muscle
34	chr6:45446800-45448400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:45447000-45448200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:45447000-45448200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:45447000-45448200	Weak transcription	HMEC	breast
38	chr6:45447000-45448400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:45447000-45454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:45447000-45456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:45447200-45449000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:45447400-45448400	Enhancers	Primary B cells from cord blood	blood
43	chr6:45447600-45448000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:45447600-45448200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr6:45447600-45448200	Enhancers	Brain Substantia Nigra	brain
46	chr6:45447600-45448200	Weak transcription	Fetal Intestine Small	intestine
47	chr6:45447600-45448400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:45447600-45449000	Enhancers	HUVEC	blood vessel
49	chr6:45447600-45449200	Genic enhancers	Dnd41	blood
50	chr6:45447600-45449600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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