Variant report

Variant	rs304848
Chromosome Location	chr11:107169263-107169264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs160173	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs160174	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs300339	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs304842	0.87[AMR][1000 genomes]
rs304851	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs304852	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs304853	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs304855	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs304883	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs304884	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs304890	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898364	chr11:106944975-107285636	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS 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
6	nsv832260	chr11:106975094-107181795	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv556279	chr11:107006900-107186896	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1035911	chr11:107020991-107198181	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1040190	chr11:107045534-107175661	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv898374	chr11:107156880-107263130	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv556280	chr11:107158740-107231605	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107153000-107191400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:107153400-107179200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:107154400-107176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:107160200-107175200	Weak transcription	Primary B cells from cord blood	blood
5	chr11:107160400-107175200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:107163000-107181800	Weak transcription	Fetal Intestine Large	intestine
7	chr11:107163000-107191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:107163200-107170200	Weak transcription	Dnd41	blood
9	chr11:107163200-107173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:107163200-107178800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:107163200-107191000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:107163200-107191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:107163200-107191400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:107163200-107191600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:107163200-107194000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:107163600-107175400	Weak transcription	Right Ventricle	heart
17	chr11:107163600-107178600	Weak transcription	Fetal Brain Female	brain
18	chr11:107163600-107179000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:107163600-107192000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:107163800-107186400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:107163800-107199000	Weak transcription	K562	blood
22	chr11:107164200-107175200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:107164200-107191200	Weak transcription	Fetal Thymus	thymus
24	chr11:107164400-107175400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:107164400-107191600	Weak transcription	Esophagus	oesophagus
26	chr11:107165000-107171400	Weak transcription	Aorta	Aorta
27	chr11:107165200-107170200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:107165200-107170800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:107165200-107171400	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:107165200-107176400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:107165200-107178800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:107165200-107178800	Weak transcription	Gastric	stomach
33	chr11:107165200-107184200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:107165200-107191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:107165200-107191200	Weak transcription	Fetal Stomach	stomach
36	chr11:107165200-107191200	Weak transcription	Pancreas	Pancrea
37	chr11:107165200-107191400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:107165400-107170600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:107165400-107171400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:107165400-107181600	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:107165400-107191200	Weak transcription	Lung	lung
42	chr11:107165400-107191600	Weak transcription	Thymus	Thymus
43	chr11:107165400-107193600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:107165600-107178800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:107165600-107190400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:107165600-107191200	Weak transcription	Spleen	Spleen
47	chr11:107165800-107175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:107165800-107178800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:107166000-107179000	Weak transcription	Ovary	ovary
50	chr11:107166200-107171200	Weak transcription	Left Ventricle	heart

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