Variant report

Variant	rs490814
Chromosome Location	chr6:44404655-44404656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:44404498-44404699	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44403977..44405888-chr6:44416360..44418391,2	K562	blood:

Variant related genes	Relation type
ENSG00000267849	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1293207	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1293209	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs1473563	1.00[YRI][hapmap]
rs1473564	1.00[YRI][hapmap]
rs1952980	0.86[AFR][1000 genomes]
rs2754769	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2894571	0.86[AFR][1000 genomes]
rs4714786	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs487711	0.86[AFR][1000 genomes]
rs571565	0.86[AFR][1000 genomes]
rs6458383	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs6458384	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6458385	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6908640	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6912195	1.00[YRI][hapmap]
rs6931374	1.00[YRI][hapmap]
rs7747178	0.85[YRI][hapmap]
rs7757621	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs856597	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs856598	0.90[AFR][1000 genomes]
rs9462986	0.86[AFR][1000 genomes]
rs994736	1.00[YRI][hapmap]

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:118 , 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	chr6:44386600-44409200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr6:44386800-44405000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:44386800-44406400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:44386800-44408800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr6:44387000-44405000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr6:44387000-44405400	Strong transcription	Primary hematopoietic stem cells	blood
8	chr6:44387000-44408000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr6:44387600-44408600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:44388400-44424400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:44388800-44409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:44390200-44409600	Weak transcription	Spleen	Spleen
13	chr6:44390200-44420200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:44391800-44409800	Weak transcription	Aorta	Aorta
15	chr6:44391800-44412600	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:44392800-44407000	Weak transcription	Ovary	ovary
17	chr6:44392800-44411800	Weak transcription	Esophagus	oesophagus
18	chr6:44393600-44411600	Weak transcription	Right Ventricle	heart
19	chr6:44394600-44407800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:44394800-44410000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:44395200-44407000	Weak transcription	NHEK	skin
22	chr6:44395200-44407200	Weak transcription	HMEC	breast
23	chr6:44395400-44408800	Weak transcription	HUVEC	blood vessel
24	chr6:44396600-44407000	Weak transcription	Osteobl	bone
25	chr6:44396600-44432800	Weak transcription	Fetal Kidney	kidney
26	chr6:44397200-44409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:44397400-44409800	Weak transcription	Fetal Brain Male	brain
28	chr6:44397800-44408600	Weak transcription	Brain Germinal Matrix	brain
29	chr6:44398200-44413400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:44398200-44413400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:44398400-44407000	Weak transcription	NHLF	lung
32	chr6:44398400-44407200	Weak transcription	Thymus	Thymus
33	chr6:44398400-44409800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:44398400-44410000	Weak transcription	Brain Anterior Caudate	brain
35	chr6:44398400-44411800	Weak transcription	Lung	lung
36	chr6:44398400-44413600	Weak transcription	Brain Angular Gyrus	brain
37	chr6:44398400-44415400	Weak transcription	Small Intestine	intestine
38	chr6:44398600-44407000	Weak transcription	Adipose Nuclei	Adipose
39	chr6:44398600-44407200	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:44398600-44407200	Weak transcription	Left Ventricle	heart
41	chr6:44398600-44407400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:44398600-44410000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:44398600-44411600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:44398600-44419600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:44398800-44408400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:44398800-44408800	Weak transcription	Brain Substantia Nigra	brain
47	chr6:44398800-44409200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:44399400-44405800	Strong transcription	HepG2	liver
49	chr6:44400000-44408200	Strong transcription	Primary T cells from cord blood	blood
50	chr6:44400600-44408600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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