Variant report

Variant	rs449047
Chromosome Location	chr11:63608427-63608428
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63608154..63610966-chr11:64109676..64111363,2	K562	blood:
2	chr11:63579651..63582051-chr11:63608159..63610304,2	MCF-7	breast:
3	chr11:63607856..63610979-chr11:63704708..63707204,3	MCF-7	breast:
4	chr11:63607750..63611534-chr11:63627673..63634127,5	MCF-7	breast:
5	chr11:63607647..63610591-chr11:63667055..63669297,3	MCF-7	breast:
6	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
7	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
8	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
9	chr11:63605595..63608737-chr11:63952425..63954944,4	MCF-7	breast:
10	chr11:63606304..63609239-chr11:63647374..63650317,2	MCF-7	breast:
11	chr11:63606175..63608969-chr11:63932687..63934753,2	MCF-7	breast:
12	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
13	chr11:63607143..63610825-chr11:63931420..63934315,4	MCF-7	breast:
14	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
15	chr11:63608184..63610790-chr11:63772494..63774086,2	K562	blood:
16	chr11:63437870..63440205-chr11:63606706..63609553,2	MCF-7	breast:
17	chr11:63605094..63609854-chr11:63611414..63617957,11	K562	blood:
18	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000202089	Chromatin interaction
ENSG00000184743	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10751001	0.96[EUR][1000 genomes]
rs10897456	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897465	0.81[CEU][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11231603	1.00[YRI][hapmap]
rs11231623	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231628	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs11231637	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11231643	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231646	0.86[TSI][hapmap]
rs11231662	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs11231664	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs11231670	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs11231671	0.92[CEU][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap]
rs11605797	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs12418000	0.92[ASN][1000 genomes]
rs12786124	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12792726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12793201	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12794404	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12800703	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs1486936	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs224170	1.00[LWK][hapmap]
rs224173	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2318126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019785	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs320109	0.85[JPT][hapmap]
rs3740637	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs3850943	0.98[EUR][1000 genomes]
rs4143327	0.85[ASN][1000 genomes]
rs454474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492357	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs4963433	0.98[EUR][1000 genomes]
rs4980499	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs4980500	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs4980530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504060	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs509701	0.88[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs61886128	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7105288	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7121067	0.87[ASN][1000 genomes]
rs7928919	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939416	0.85[EUR][1000 genomes]
rs7950543	0.89[AFR][1000 genomes]
rs928948	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs449047	FADS2	cis	parietal	SCAN
rs449047	SLC22A8	cis	parietal	SCAN
rs449047	NAALADL1	cis	cerebellum	SCAN
rs449047	ZBTB3	cis	parietal	SCAN
rs449047	PLA2G16	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63605800-63608600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:63606000-63608600	Active TSS	Fetal Intestine Small	intestine
3	chr11:63606000-63608800	Active TSS	GM12878-XiMat	blood
4	chr11:63606600-63608600	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr11:63606600-63608800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:63607000-63608800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:63607000-63609000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:63607000-63609000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:63607000-63609200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr11:63607000-63609200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr11:63607000-63609400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr11:63607000-63609800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr11:63607200-63608600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:63607200-63609000	Flanking Active TSS	Liver	Liver
15	chr11:63607200-63609000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr11:63607200-63609200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:63607200-63609200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:63607200-63609200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:63607200-63609600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:63607400-63608600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:63607400-63608600	Flanking Active TSS	Psoas Muscle	Psoas
22	chr11:63607400-63608800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:63607400-63608800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr11:63607400-63609200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:63607400-63609400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:63607400-63609400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:63607400-63609400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:63607400-63609400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:63607400-63609400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:63607400-63609400	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr11:63607400-63609400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr11:63607400-63609400	Flanking Active TSS	HUVEC	blood vessel
33	chr11:63607400-63609600	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr11:63607400-63609600	Flanking Active TSS	Fetal Brain Female	brain
35	chr11:63607600-63608800	Flanking Active TSS	Fetal Thymus	thymus
36	chr11:63607600-63608800	Flanking Active TSS	Hela-S3	cervix
37	chr11:63607600-63609000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr11:63607600-63609000	Flanking Active TSS	Fetal Stomach	stomach
39	chr11:63607600-63609200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:63607600-63609200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr11:63607600-63609200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:63607600-63609200	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr11:63607600-63609400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:63607600-63609400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:63607600-63609400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr11:63607600-63609400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:63607600-63609400	Flanking Active TSS	Osteobl	bone
48	chr11:63607600-63609600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr11:63607600-63609600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:63607600-63609600	Flanking Active TSS	HMEC	breast

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