Variant report

Variant	rs1940568
Chromosome Location	chr11:64618073-64618074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64616026..64618521-chr11:64690212..64692230,2	K562	blood:
2	chr11:64618024..64620954-chr11:65196228..65198259,2	K562	blood:
3	chr11:64616307..64620011-chr11:64879222..64882683,4	MCF-7	breast:
4	chr11:64615460..64618389-chr11:64682747..64685573,2	MCF-7	breast:
5	chr11:64618051..64618952-chr11:64661579..64662383,2	K562	blood:
6	chr11:64616877..64620386-chr11:64882917..64887386,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000149809	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10897532	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589984	0.87[AFR][1000 genomes]
rs653343	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs67580880	0.82[ASN][1000 genomes]
rs684821	0.84[AFR][1000 genomes]

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	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	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	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
6	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv555207	chr11:64600002-64620518	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS 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 miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64611800-64618400	Weak transcription	HSMM	muscle
2	chr11:64611800-64619200	Weak transcription	HSMMtube	muscle
3	chr11:64611800-64620800	Weak transcription	HUVEC	blood vessel
4	chr11:64611800-64621200	Weak transcription	Fetal Heart	heart
5	chr11:64612400-64619400	Weak transcription	Aorta	Aorta
6	chr11:64612600-64618600	Weak transcription	NH-A	brain
7	chr11:64612600-64619000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:64612600-64620000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:64612600-64620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:64612600-64621000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:64612800-64619000	Enhancers	Placenta	Placenta
13	chr11:64613000-64618400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:64613000-64618600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:64613000-64618600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:64613000-64629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:64613000-64630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:64613200-64618600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:64614400-64618600	Enhancers	Primary B cells from cord blood	blood
20	chr11:64614400-64618600	Enhancers	Primary B cells from peripheral blood	blood
21	chr11:64614400-64618600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:64614400-64618600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:64614400-64618600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:64614400-64618600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr11:64614400-64618800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:64614400-64619200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:64614400-64619400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:64614400-64619400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:64614400-64619600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:64614400-64619600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:64614400-64620800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr11:64614400-64620800	Enhancers	Stomach Mucosa	stomach
33	chr11:64614400-64621000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:64614600-64618400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:64614600-64619000	Enhancers	Fetal Muscle Trunk	muscle
36	chr11:64614800-64618600	Enhancers	GM12878-XiMat	blood
37	chr11:64614800-64618800	Enhancers	Fetal Muscle Leg	muscle
38	chr11:64614800-64619000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:64614800-64619200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:64614800-64619200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:64614800-64619200	Enhancers	Adipose Nuclei	Adipose
42	chr11:64614800-64619200	Enhancers	Fetal Thymus	thymus
43	chr11:64614800-64621000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:64614800-64622600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:64615000-64618800	Weak transcription	Brain Germinal Matrix	brain
46	chr11:64615000-64621400	Weak transcription	Brain Angular Gyrus	brain
47	chr11:64615200-64618600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:64615200-64619200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:64615200-64619800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:64615200-64620000	Weak transcription	Dnd41	blood

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