Variant report

Variant	rs641623
Chromosome Location	chr11:64652474-64652475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64544541..64547217-chr11:64651597..64655182,4	K562	blood:
2	chr11:64651561..64659485-chr11:64681552..64686807,18	K562	blood:
3	chr11:64594516..64598038-chr11:64651290..64654943,3	K562	blood:
4	chr11:64650003..64652672-chr11:64721457..64723265,2	K562	blood:
5	chr11:64649803..64652789-chr11:64683716..64685434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168066	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000068971	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10897533	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211284	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12573	0.87[ASN][1000 genomes]
rs12801172	0.98[ASN][1000 genomes]
rs17146413	0.96[ASN][1000 genomes]
rs2007521	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2077026	1.00[ASN][1000 genomes]
rs3741391	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3893108	0.92[ASN][1000 genomes]
rs3937000	0.92[ASN][1000 genomes]
rs41381745	0.96[ASN][1000 genomes]
rs4930280	0.90[ASN][1000 genomes]
rs4930281	0.92[ASN][1000 genomes]
rs4930685	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57851864	0.98[ASN][1000 genomes]
rs589556	0.98[ASN][1000 genomes]
rs602347	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607569	0.92[ASN][1000 genomes]
rs620066	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs621608	1.00[ASN][1000 genomes]
rs622611	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs635722	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs649208	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs653225	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs654580	0.98[ASN][1000 genomes]
rs656982	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7126744	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7926812	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7927560	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943238	0.86[ASN][1000 genomes]
rs7944276	0.97[ASN][1000 genomes]
rs7949887	0.84[ASN][1000 genomes]
rs7952306	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7952567	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	1028 gene(s)	inside rSNPs	diseases
9	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases
10	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
11	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64647000-64655200	Weak transcription	Esophagus	oesophagus
2	chr11:64647000-64655400	Weak transcription	Ovary	ovary
3	chr11:64647200-64652600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64647200-64653000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:64647200-64653000	Weak transcription	HMEC	breast
6	chr11:64647200-64655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:64647200-64655600	Weak transcription	Gastric	stomach
8	chr11:64647400-64652800	Weak transcription	Fetal Heart	heart
9	chr11:64647400-64652800	Weak transcription	HUVEC	blood vessel
10	chr11:64647400-64653000	Weak transcription	NH-A	brain
11	chr11:64647400-64655200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:64647400-64655600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:64647600-64652600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:64647600-64652800	Weak transcription	Hela-S3	cervix
15	chr11:64647800-64652600	Weak transcription	A549	lung
16	chr11:64648000-64655200	Weak transcription	Left Ventricle	heart
17	chr11:64648000-64655200	Weak transcription	Lung	lung
18	chr11:64648000-64655200	Weak transcription	Pancreas	Pancrea
19	chr11:64648200-64652800	Weak transcription	Stomach Mucosa	stomach
20	chr11:64648200-64655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:64648400-64652600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:64648400-64652800	Weak transcription	Osteobl	bone
23	chr11:64648400-64653000	Weak transcription	NHLF	lung
24	chr11:64648400-64655600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:64648600-64652600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:64648600-64653000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:64648600-64653200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:64648600-64653200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:64648600-64654800	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:64648600-64655200	Weak transcription	Thymus	Thymus
31	chr11:64648800-64652600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:64648800-64652600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:64648800-64652800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:64648800-64652800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:64648800-64653000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:64648800-64653200	Weak transcription	Liver	Liver
37	chr11:64648800-64654800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:64649000-64652600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:64649000-64655000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:64649200-64652600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:64649200-64652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:64649200-64652800	Weak transcription	Primary T cells from cord blood	blood
43	chr11:64649200-64653000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:64649200-64653000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:64649200-64655200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:64649200-64655200	Weak transcription	Right Atrium	heart
47	chr11:64649400-64652600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:64649400-64654800	Weak transcription	GM12878-XiMat	blood
49	chr11:64650200-64652800	Weak transcription	Adipose Nuclei	Adipose
50	chr11:64650200-64653000	Weak transcription	NHDF-Ad	bronchial

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