Variant report

Variant	rs550925498
Chromosome Location	chr11:3903406-3903407
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	chr11:3888017..3891193-chr11:3903211..3907192,4	K562	blood:
2	chr11:3889318..3891193-chr11:3903211..3907192,3	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
9	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
10	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
11	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
12	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
13	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3888600-3911200	Weak transcription	Dnd41	blood
2	chr11:3889200-3913400	Weak transcription	Aorta	Aorta
3	chr11:3891400-3915000	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:3898800-3903800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:3899200-3926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:3899400-3905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:3899800-3915600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:3900000-3916000	Weak transcription	Spleen	Spleen
9	chr11:3901200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:3901800-3903800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:3902000-3905600	Weak transcription	Lung	lung
12	chr11:3902000-3911400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:3902200-3903600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:3902200-3903600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:3902200-3903600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:3902200-3903800	Weak transcription	Primary T cells from cord blood	blood
17	chr11:3902200-3905200	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:3902200-3905200	Weak transcription	Psoas Muscle	Psoas
19	chr11:3902200-3905200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:3902200-3905200	Weak transcription	Small Intestine	intestine
21	chr11:3902200-3905400	Weak transcription	Esophagus	oesophagus
22	chr11:3902200-3905400	Weak transcription	Ovary	ovary
23	chr11:3902200-3905400	Weak transcription	Pancreas	Pancrea
24	chr11:3902200-3905400	Weak transcription	Right Ventricle	heart
25	chr11:3902200-3905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:3902200-3906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:3902200-3906800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:3902200-3908200	Weak transcription	Adipose Nuclei	Adipose
29	chr11:3902200-3908400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:3902200-3909200	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:3902200-3909200	Weak transcription	Fetal Thymus	thymus
32	chr11:3902200-3909200	Weak transcription	Thymus	Thymus
33	chr11:3902200-3909400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:3902200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:3902200-3916400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:3902200-3916400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:3902400-3903600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:3902400-3903800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:3902400-3903800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:3902400-3903800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:3902400-3903800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:3902400-3904800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:3902400-3905200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:3902400-3905400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:3902400-3906600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:3902400-3907000	Weak transcription	NH-A	brain
47	chr11:3902400-3909200	Weak transcription	Left Ventricle	heart
48	chr11:3902400-3910400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr11:3902400-3916400	Weak transcription	Fetal Intestine Small	intestine
50	chr11:3902400-3923800	Weak transcription	Gastric	stomach

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