Variant report

Variant	rs7124142
Chromosome Location	chr11:108608237-108608238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108606643..108608338-chr11:108611521..108613819,2	K562	blood:
2	chr11:108608130..108610495-chr11:108618565..108620972,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10732846	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12787498	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788182	0.80[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12799569	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807367	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466502	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469274	0.95[GIH][hapmap]
rs1531470	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703817	0.95[GIH][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs1947928	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947929	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061680	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126570	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553769	0.95[GIH][hapmap]
rs2615721	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615734	0.82[EUR][1000 genomes]
rs2615735	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615738	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2615742	0.85[EUR][1000 genomes]
rs2726876	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726880	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726887	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726891	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726924	0.95[GIH][hapmap]
rs34746018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234597	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396330	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3951111	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754342	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589029	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68161639	0.80[AMR][1000 genomes]
rs7103209	1.00[YRI][hapmap]
rs7129535	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130825	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489910	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489912	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489921	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489923	0.85[EUR][1000 genomes]
rs73005544	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931638	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108578800-108614400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:108581600-108626600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:108581800-108609800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:108581800-108610800	Weak transcription	Thymus	Thymus
5	chr11:108581800-108611400	Weak transcription	Brain Substantia Nigra	brain
6	chr11:108581800-108616200	Weak transcription	Esophagus	oesophagus
7	chr11:108583000-108610600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:108583200-108611600	Weak transcription	Fetal Lung	lung
9	chr11:108587200-108608800	Weak transcription	Fetal Stomach	stomach
10	chr11:108589000-108611800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:108591400-108610600	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:108592000-108620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:108594000-108612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:108594200-108608400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:108594200-108611400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:108594200-108615400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:108594400-108613600	Weak transcription	HSMMtube	muscle
18	chr11:108594400-108625400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:108596400-108610800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:108596400-108610800	Weak transcription	Dnd41	blood
21	chr11:108596400-108614400	Weak transcription	Right Ventricle	heart
22	chr11:108596400-108621000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:108600600-108609600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:108603400-108611200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:108603600-108610600	Weak transcription	Gastric	stomach
26	chr11:108603600-108617600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:108604400-108611200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:108604600-108609400	Weak transcription	Psoas Muscle	Psoas
29	chr11:108604600-108611800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:108604600-108616000	Weak transcription	Right Atrium	heart
31	chr11:108604600-108625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:108604600-108625800	Weak transcription	Primary T cells from cord blood	blood
33	chr11:108604800-108610200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:108604800-108610400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:108604800-108610600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:108604800-108627800	Weak transcription	Left Ventricle	heart
37	chr11:108605000-108608600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:108605000-108609400	Weak transcription	NH-A	brain
39	chr11:108605000-108609800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:108605000-108610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:108605000-108610800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:108605000-108610800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:108605000-108611600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:108605200-108611400	Weak transcription	HMEC	breast
45	chr11:108605200-108614800	Weak transcription	A549	lung
46	chr11:108605200-108618400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:108605400-108611400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:108605400-108625400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:108605800-108610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:108605800-108611200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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