Variant report

Variant	rs926100
Chromosome Location	chr11:4411002-4411003
allele	A/C
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	POLR2A	chr11:4410184-4411042	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TRIM21	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10835995	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10836005	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032080	0.85[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032090	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11493503	0.93[EUR][1000 genomes]
rs11824326	0.82[AFR][1000 genomes]
rs11829029	1.00[ASN][1000 genomes]
rs12146641	1.00[MEX][hapmap]
rs12274843	1.00[ASN][1000 genomes]
rs12365876	0.92[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599597	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57648893	1.00[ASN][1000 genomes]
rs61997232	1.00[ASN][1000 genomes]
rs73425735	1.00[ASN][1000 genomes]
rs73432758	1.00[ASN][1000 genomes]
rs73432761	1.00[ASN][1000 genomes]
rs73432791	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1041957	chr11:4213658-4470615	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv540913	chr11:4213658-4470615	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1811486	chr11:4221216-4443039	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1814887	chr11:4221216-4510188	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv427881	chr11:4221216-4510188	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1037093	chr11:4256117-4418201	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1053120	chr11:4272450-4465637	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv832054	chr11:4290607-4481475	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv932141	chr11:4326065-4531854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv469800	chr11:4333541-4474341	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv896907	chr11:4367196-4443472	Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv896908	chr11:4367196-4552102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv896909	chr11:4377205-4443472	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv896910	chr11:4377205-4455955	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv553156	chr11:4386183-4414873	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv553157	chr11:4387760-4413960	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv553158	chr11:4387760-4415079	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1042099	chr11:4388448-4414072	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv540914	chr11:4388448-4414072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1052376	chr11:4388448-4475303	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv540915	chr11:4388448-4475303	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
26	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
27	nsv553159	chr11:4389110-4599221	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
29	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
30	nsv1039510	chr11:4393573-4465634	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv540918	chr11:4393573-4465634	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
33	nsv553160	chr11:4404192-4589567	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
34	nsv553161	chr11:4404192-4589780	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
35	nsv553162	chr11:4407725-4458967	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs926100	OR51B2	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4403200-4412000	Strong transcription	Primary T cells from cord blood	blood
2	chr11:4403400-4414400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:4403600-4411200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:4403600-4414000	Weak transcription	K562	blood
5	chr11:4403600-4414400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:4404000-4414000	Weak transcription	Fetal Kidney	kidney
7	chr11:4404200-4412000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:4404400-4411400	Strong transcription	Fetal Stomach	stomach
9	chr11:4404400-4411600	Strong transcription	Aorta	Aorta
10	chr11:4404400-4411600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr11:4404400-4411800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:4404400-4411800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:4404400-4411800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:4404400-4411800	Strong transcription	Fetal Intestine Small	intestine
15	chr11:4404400-4411800	Strong transcription	Left Ventricle	heart
16	chr11:4404400-4411800	Strong transcription	Thymus	Thymus
17	chr11:4404400-4411800	Strong transcription	Spleen	Spleen
18	chr11:4404400-4412400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:4404600-4411200	Strong transcription	Lung	lung
20	chr11:4404600-4411600	Strong transcription	Liver	Liver
21	chr11:4404600-4411600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:4404600-4411800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:4404600-4411800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:4404600-4411800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:4404600-4411800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:4404600-4411800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:4404600-4411800	Strong transcription	Fetal Intestine Large	intestine
28	chr11:4404800-4411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:4404800-4411800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:4404800-4412200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:4404800-4412200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:4404800-4414200	Weak transcription	Fetal Brain Male	brain
33	chr11:4405000-4411600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:4405000-4411600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:4405000-4411600	Strong transcription	Placenta	Placenta
36	chr11:4405000-4411600	Strong transcription	Ovary	ovary
37	chr11:4405000-4411600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:4405000-4411800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:4405000-4411800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:4405000-4411800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:4405000-4412000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:4405000-4414400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:4405200-4411600	Strong transcription	Adipose Nuclei	Adipose
44	chr11:4405200-4411600	Strong transcription	Colonic Mucosa	Colon
45	chr11:4405200-4411600	Strong transcription	Fetal Thymus	thymus
46	chr11:4405200-4411600	Strong transcription	Right Ventricle	heart
47	chr11:4405200-4411800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:4405200-4411800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:4405200-4413200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr11:4405200-4414200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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