Variant report

Variant	rs7126870
Chromosome Location	chr11:3890059-3890060
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	chr11:3889318..3891193-chr11:3903211..3907192,3	K562	blood:
2	chr11:3862483..3865232-chr11:3890007..3892959,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10160254	0.80[ASN][1000 genomes]
rs10160703	0.80[ASN][1000 genomes]
rs10160753	0.80[ASN][1000 genomes]
rs10767679	0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs10767680	0.80[ASN][1000 genomes]
rs10767681	0.80[ASN][1000 genomes]
rs10835217	0.82[ASN][1000 genomes]
rs10835232	0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs10835247	0.80[ASN][1000 genomes]
rs10835248	0.80[ASN][1000 genomes]
rs10835249	0.80[ASN][1000 genomes]
rs10835250	0.80[ASN][1000 genomes]
rs11030122	0.82[ASN][1000 genomes]
rs11030128	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12275981	0.85[ASN][1000 genomes]
rs1869085	0.81[CHD][hapmap]
rs4414209	0.83[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4910582	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.99[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910584	0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs7126252	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131469	0.80[ASN][1000 genomes]
rs7932404	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7952083	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7126870	TRIM22	cis	parietal	SCAN
rs7126870	POLR2L	cis	cerebellum	SCAN
rs7126870	OR10A4	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3883000-3893200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:3883000-3893400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:3883200-3890200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr11:3883200-3893600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:3883800-3893600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:3883800-3893800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:3884600-3890200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:3886200-3890400	Enhancers	Fetal Heart	heart
9	chr11:3886400-3890200	Enhancers	Stomach Mucosa	stomach
10	chr11:3886400-3893600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:3886600-3893400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:3886800-3890200	Enhancers	Fetal Intestine Small	intestine
13	chr11:3886800-3899200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:3887200-3901400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:3887400-3890200	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:3887400-3892400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:3887400-3892400	Weak transcription	HSMM	muscle
18	chr11:3887400-3898600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:3887600-3891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:3888400-3892400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:3888600-3911200	Weak transcription	Dnd41	blood
22	chr11:3889000-3891800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:3889000-3892400	Weak transcription	HSMMtube	muscle
24	chr11:3889000-3892600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:3889000-3893400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:3889000-3898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:3889000-3898600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:3889000-3899000	Weak transcription	Esophagus	oesophagus
29	chr11:3889000-3902400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:3889200-3892200	Weak transcription	Spleen	Spleen
31	chr11:3889200-3892400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:3889200-3892600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:3889200-3913400	Weak transcription	Aorta	Aorta
34	chr11:3889400-3890400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr11:3889400-3890400	Weak transcription	Psoas Muscle	Psoas
36	chr11:3889400-3890600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:3889400-3891400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:3889400-3891600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:3889400-3892200	Weak transcription	Primary B cells from cord blood	blood
40	chr11:3889400-3892400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:3889400-3892400	Enhancers	GM12878-XiMat	blood
42	chr11:3889400-3893400	Weak transcription	Thymus	Thymus
43	chr11:3889400-3894800	Weak transcription	Ovary	ovary
44	chr11:3889400-3894800	Weak transcription	Right Ventricle	heart
45	chr11:3889400-3896400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:3889400-3898200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:3889400-3898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:3889400-3898600	Weak transcription	Pancreas	Pancrea
49	chr11:3889400-3898600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:3889400-3898800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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