Variant report

Variant	rs7938548
Chromosome Location	chr11:46260507-46260508
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
2	chr11:46257250..46262210-chr11:46367431..46371476,7	K562	blood:
3	chr11:46259959..46260814-chr19:2475741..2476377,2	Hela-S3	cervix:
4	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
5	chr11:46260302..46262662-chr11:46340066..46342667,3	K562	blood:
6	chr11:46259710..46260542-chr11:62608878..62609716,3	Hela-S3	cervix:
7	chr11:46259014..46262894-chr11:46335326..46342667,9	K562	blood:
8	chr11:46260084..46261825-chr11:46306467..46308194,2	K562	blood:
9	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
10	chr11:45939300..45941780-chr11:46259462..46260979,2	K562	blood:
11	chr11:46257955..46261525-chr11:46335370..46339844,7	K562	blood:
12	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
13	chr11:46260006..46260523-chr14:92572529..92573029,2	Hela-S3	cervix:
14	chr11:46148570..46149540-chr11:46260403..46260958,3	MCF-7	breast:
15	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
16	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
17	chr11:46260392..46261346-chr11:46336358..46337814,7	K562	blood:
18	chr11:46260404..46262325-chr11:46311878..46313635,2	K562	blood:
19	chr11:46259601..46262600-chr11:46396117..46399053,2	K562	blood:
20	chr11:46134047..46136241-chr11:46260486..46262310,2	K562	blood:
21	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
22	chr11:46260057..46260933-chr11:65272315..65273199,2	Hela-S3	cervix:
23	chr11:46260418..46261307-chr11:46318503..46319170,4	K562	blood:
24	chr11:46259959..46260523-chr2:9770425..9771131,2	Hela-S3	cervix:
25	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
26	chr11:46260020..46262918-chr11:46267524..46269406,4	MCF-7	breast:
27	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
28	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
29	chr11:46239861..46241772-chr11:46260396..46261899,2	K562	blood:
30	chr11:46260034..46261360-chr11:46336245..46337600,10	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREB3L1-1	chr11:46260290-46260818	ENSG00000254639

No data

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000263539	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000066427	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000254653	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10742780	1.00[TSI][hapmap]
rs12270100	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46258200-46261200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:46258400-46261400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:46258600-46260600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:46258600-46260600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:46258600-46261200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr11:46258600-46261800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:46258800-46260800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
8	chr11:46258800-46260800	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr11:46258800-46261000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:46258800-46261200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:46259000-46260600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:46259000-46260600	Active TSS	Right Atrium	heart
13	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
14	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:46259000-46260800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr11:46259000-46261000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:46259200-46260800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:46259200-46260800	Active TSS	Aorta	Aorta
19	chr11:46259200-46261200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:46259200-46261200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr11:46259200-46261200	Flanking Active TSS	HMEC	breast
22	chr11:46259400-46260600	Bivalent/Poised TSS	Thymus	Thymus
23	chr11:46259400-46260800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
24	chr11:46259400-46260800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:46259800-46260600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr11:46259800-46260600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
27	chr11:46259800-46260800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:46259800-46260800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:46259800-46260800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:46259800-46261000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr11:46259800-46261200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:46259800-46261400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:46260000-46260600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:46260000-46260600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:46260000-46260600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:46260000-46260600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:46260000-46260600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:46260000-46260600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
39	chr11:46260000-46260600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:46260000-46260600	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr11:46260000-46260600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
42	chr11:46260000-46260600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
43	chr11:46260000-46260600	Flanking Active TSS	Fetal Heart	heart
44	chr11:46260000-46260600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr11:46260000-46260600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr11:46260000-46260600	Bivalent Enhancer	Dnd41	blood
47	chr11:46260000-46260600	Flanking Active TSS	HSMM	muscle
48	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr11:46260000-46260800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:46260000-46260800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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