Variant report

Variant	rs2318126
Chromosome Location	chr11:63610365-63610366
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63608154..63610966-chr11:64109676..64111363,2	K562	blood:
2	chr11:63607856..63610979-chr11:63704708..63707204,3	MCF-7	breast:
3	chr11:63607750..63611534-chr11:63627673..63634127,5	MCF-7	breast:
4	chr11:63607647..63610591-chr11:63667055..63669297,3	MCF-7	breast:
5	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
6	chr11:63607143..63610825-chr11:63931420..63934315,4	MCF-7	breast:
7	chr11:63608840..63610534-chr11:63656081..63658372,2	MCF-7	breast:
8	chr11:63609085..63610826-chr11:63629882..63631778,2	K562	blood:
9	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
10	chr11:63608184..63610790-chr11:63772494..63774086,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10751001	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10897456	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897459	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897465	0.81[CEU][hapmap]
rs11231623	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231628	1.00[CEU][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs11231637	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11231643	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231646	0.88[TSI][hapmap]
rs11231662	0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs11231664	0.92[CEU][hapmap]
rs11231670	0.92[CEU][hapmap]
rs11231671	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs11605797	0.92[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs12418000	0.92[ASN][1000 genomes]
rs12786124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12792726	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12793201	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12794404	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12800703	0.87[CEU][hapmap]
rs1486936	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs224173	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019785	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs320109	0.85[JPT][hapmap]
rs3740637	0.88[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs3850943	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4143327	0.85[ASN][1000 genomes]
rs449047	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]
rs454474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[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]
rs492357	0.89[CEU][hapmap]
rs4963433	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4980499	0.92[CEU][hapmap];0.81[GIH][hapmap];0.86[TSI][hapmap]
rs4980500	0.92[CEU][hapmap];0.81[GIH][hapmap];0.86[TSI][hapmap]
rs4980530	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504060	0.89[CEU][hapmap]
rs509701	0.88[CEU][hapmap];0.82[TSI][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]
rs7123788	0.86[LWK][hapmap]
rs7928919	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939416	0.86[EUR][1000 genomes]
rs928948	1.00[CEU][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.93[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
rs2318126	ZBTB3	cis	parietal	SCAN
rs2318126	NAALADL1	cis	cerebellum	SCAN
rs2318126	FADS2	cis	parietal	SCAN
rs2318126	SLC22A8	cis	parietal	SCAN
rs2318126	PLA2G16	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63608200-63613400	Enhancers	Stomach Mucosa	stomach
2	chr11:63608400-63610600	Enhancers	Fetal Heart	heart
3	chr11:63608400-63611000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:63608400-63618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:63608800-63610600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
6	chr11:63608800-63611000	Genic enhancers	Primary hematopoietic stem cells	blood
7	chr11:63608800-63611000	Genic enhancers	Fetal Thymus	thymus
8	chr11:63608800-63611000	Enhancers	Left Ventricle	heart
9	chr11:63608800-63611600	Enhancers	Right Atrium	heart
10	chr11:63609000-63610800	Enhancers	Colon Smooth Muscle	Colon
11	chr11:63609000-63610800	Genic enhancers	Fetal Lung	lung
12	chr11:63609000-63611800	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr11:63609000-63611800	Enhancers	Liver	Liver
14	chr11:63609000-63611800	Genic enhancers	Fetal Stomach	stomach
15	chr11:63609000-63612000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr11:63609000-63612400	Weak transcription	Right Ventricle	heart
17	chr11:63609000-63612600	Genic enhancers	Placenta	Placenta
18	chr11:63609000-63613200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr11:63609000-63613200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:63609200-63610400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:63609200-63610400	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:63609200-63610600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:63609200-63610600	Enhancers	Adipose Nuclei	Adipose
24	chr11:63609200-63610600	Weak transcription	Lung	lung
25	chr11:63609200-63611000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:63609200-63611200	Weak transcription	Aorta	Aorta
27	chr11:63609200-63611400	Enhancers	Brain Hippocampus Middle	brain
28	chr11:63609200-63612400	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:63609200-63613000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:63609200-63613400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:63609200-63613400	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr11:63609200-63613600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:63609200-63613600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:63609200-63613800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:63609200-63616600	Genic enhancers	Fetal Intestine Small	intestine
36	chr11:63609400-63610400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:63609400-63610400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:63609400-63610400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:63609400-63610400	Weak transcription	Small Intestine	intestine
40	chr11:63609400-63610400	Enhancers	Stomach Smooth Muscle	stomach
41	chr11:63609400-63610600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:63609400-63610600	Enhancers	Brain Anterior Caudate	brain
43	chr11:63609400-63610600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:63609400-63610600	Genic enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:63609400-63610800	Enhancers	HepG2	liver
46	chr11:63609400-63611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:63609400-63611000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:63609400-63611000	Enhancers	Brain Substantia Nigra	brain
49	chr11:63609400-63611000	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:63609400-63611400	Enhancers	Pancreas	Pancrea

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