Variant report

Variant	rs572400211
Chromosome Location	chr11:5720451-5720452
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5700598..5702290-chr11:5720300..5722601,2	K562	blood:

Variant related genes	Relation type
ENSG00000132256	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896949	chr11:5711177-5722444	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv553274	chr11:5719835-5722381	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3528426	chr11:5720349-5720880	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3455886	chr11:5720358-5720898	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3528432	chr11:5720366-5720884	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3455897	chr11:5720377-5720895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3528430	chr11:5720386-5720834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3455919	chr11:5720389-5720869	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3528431	chr11:5720395-5720859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3455908	chr11:5720406-5720825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3528427	chr11:5720409-5720860	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3455930	chr11:5720441-5720802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3528428	chr11:5720451-5720818	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5712000-5723000	Weak transcription	Fetal Stomach	stomach
2	chr11:5712200-5723600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
4	chr11:5712400-5723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:5712400-5723000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
8	chr11:5712400-5731800	Weak transcription	NH-A	brain
9	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
10	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
11	chr11:5712600-5723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
13	chr11:5712600-5730200	Weak transcription	NHEK	skin
14	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
16	chr11:5713000-5723000	Weak transcription	Right Ventricle	heart
17	chr11:5713000-5726000	Weak transcription	Left Ventricle	heart
18	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:5713600-5730800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:5713800-5729800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:5713800-5731200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:5714000-5732600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:5715000-5721400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:5715800-5729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:5716200-5721000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:5716200-5721400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:5716200-5724200	Strong transcription	Osteobl	bone
31	chr11:5716800-5721200	Strong transcription	Primary B cells from cord blood	blood
32	chr11:5717000-5720600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:5717200-5720600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:5717200-5721600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:5717200-5721600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:5717200-5721600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:5717400-5721800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:5717400-5722800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:5717400-5726200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:5717400-5732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:5717600-5720600	Strong transcription	Lung	lung
43	chr11:5717600-5722000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:5717600-5722400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:5717600-5731200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:5717600-5732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:5717800-5722000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:5718000-5721400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:5718000-5728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel

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