Variant report

Variant	rs11211020
Chromosome Location	chr1:45121045-45121046
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45096840..45099376-chr1:45118064..45121315,3	MCF-7	breast:
2	chr1:45119430..45122212-chr1:45185385..45187031,2	MCF-7	breast:
3	chr1:45118835..45121657-chr1:45126816..45128426,2	MCF-7	breast:
4	chr1:45114297..45117941-chr1:45118862..45123452,6	K562	blood:
5	chr1:45095204..45100641-chr1:45116393..45122089,10	MCF-7	breast:
6	chr1:45115442..45121440-chr1:45183545..45188680,13	K562	blood:
7	chr1:45118903..45121400-chr1:45139420..45141294,2	K562	blood:
8	chr1:45074848..45075421-chr1:45120987..45121697,2	MCF-7	breast:
9	chr1:45120989..45121628-chr1:45142310..45143111,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000198520	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs270729	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3850853	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS 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	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45099400-45121200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:45099800-45121200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:45099800-45121600	Strong transcription	Brain Germinal Matrix	brain
4	chr1:45099800-45125600	Strong transcription	Lung	lung
5	chr1:45103600-45121400	Strong transcription	Fetal Brain Female	brain
6	chr1:45104000-45138200	Weak transcription	Fetal Brain Male	brain
7	chr1:45106800-45124800	Weak transcription	Fetal Heart	heart
8	chr1:45109600-45121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:45111200-45128000	Weak transcription	Right Atrium	heart
10	chr1:45112000-45121400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:45113000-45126200	Weak transcription	Small Intestine	intestine
12	chr1:45113200-45125800	Strong transcription	Fetal Stomach	stomach
13	chr1:45113800-45121200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:45114600-45130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:45115000-45126000	Weak transcription	HMEC	breast
16	chr1:45115200-45137800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:45115600-45125800	Weak transcription	HSMM	muscle
18	chr1:45115800-45125000	Weak transcription	Fetal Kidney	kidney
19	chr1:45115800-45138000	Weak transcription	NHDF-Ad	bronchial
20	chr1:45116000-45124400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:45116000-45130000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:45116200-45121400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:45116600-45127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:45116800-45121200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:45116800-45121800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:45116800-45122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:45116800-45125800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:45117000-45125600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:45117200-45125000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:45117200-45125800	Weak transcription	Fetal Lung	lung
31	chr1:45117200-45127600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:45117200-45130200	Weak transcription	Primary B cells from cord blood	blood
33	chr1:45117200-45137800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:45117200-45138600	Weak transcription	Aorta	Aorta
35	chr1:45117400-45125800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:45117400-45125800	Weak transcription	HSMMtube	muscle
37	chr1:45117400-45129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:45117400-45130200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:45117400-45130200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:45117400-45130200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:45117400-45138000	Weak transcription	Left Ventricle	heart
42	chr1:45117600-45130200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:45117800-45125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:45117800-45125600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:45117800-45126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:45117800-45128000	Weak transcription	Colonic Mucosa	Colon
47	chr1:45118000-45124600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:45118200-45130200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:45118400-45127600	Weak transcription	Thymus	Thymus
50	chr1:45118400-45129400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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