Variant report

Variant	rs530774733
Chromosome Location	chr11:5723750-5723751
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	11:5033143-5038367..11:5721056-5732713	GM12878	blood:
2	chr11:5723116..5725738-chr11:5727470..5730320,2	K562	blood:
3	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
4	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
5	11:5087036-5092291..11:5721056-5732713	K562	blood:
6	11:5488942-5494633..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
7	11:5586716-5591774..11:5721056-5732713	GM12878	blood:
8	chr11:5721533..5723837-chr11:5757099..5760021,2	K562	blood:

Variant related genes	Relation type
ENSG00000273085	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000230484	Chromatin interaction
ENSG00000181023	Chromatin interaction
ENSG00000233646	Chromatin interaction
ENSG00000227023	Chromatin interaction
ENSG00000132274	Chromatin interaction
ENSG00000224300	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3353991	chr11:5722526-5724774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	esv3337924	chr11:5722976-5724124	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
2	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
4	chr11:5712400-5731800	Weak transcription	NH-A	brain
5	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
6	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
7	chr11:5712600-5723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
9	chr11:5712600-5730200	Weak transcription	NHEK	skin
10	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
12	chr11:5713000-5726000	Weak transcription	Left Ventricle	heart
13	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:5713600-5730800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:5713800-5729800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:5713800-5731200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:5714000-5732600	Weak transcription	Brain Substantia Nigra	brain
20	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:5715800-5729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:5716200-5724200	Strong transcription	Osteobl	bone
23	chr11:5717400-5726200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:5717400-5732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:5717600-5731200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:5717600-5732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:5718000-5728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel
30	chr11:5718400-5729000	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:5720000-5727000	Weak transcription	Ovary	ovary
32	chr11:5720000-5727600	Weak transcription	HSMMtube	muscle
33	chr11:5720000-5729200	Weak transcription	Aorta	Aorta
34	chr11:5720000-5729200	Weak transcription	Gastric	stomach
35	chr11:5720000-5729200	Weak transcription	Spleen	Spleen
36	chr11:5720000-5732600	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:5720200-5723800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:5720200-5724000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:5720200-5724200	Weak transcription	Liver	Liver
40	chr11:5720200-5724400	Weak transcription	Primary T cells from cord blood	blood
41	chr11:5720200-5725000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:5720200-5726600	Weak transcription	Fetal Thymus	thymus
43	chr11:5720200-5728800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:5720200-5729200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:5720200-5729200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:5720200-5730200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:5720200-5730600	Weak transcription	Placenta	Placenta
48	chr11:5720200-5731800	Weak transcription	Small Intestine	intestine
49	chr11:5720200-5731800	Weak transcription	NHLF	lung
50	chr11:5720200-5732600	Weak transcription	Rectal Mucosa Donor 29	rectum

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