Variant report

Variant	rs73454010
Chromosome Location	chr11:46709659-46709660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46708484..46715351-chr11:46720742..46723956,9	MCF-7	breast:
2	chr11:46709487..46711426-chr11:46765477..46767414,2	K562	blood:
3	chr11:46708902..46710744-chr11:46719823..46723678,3	MCF-7	breast:
4	chr11:46704275..46710507-chr11:46714249..46719303,8	MCF-7	breast:
5	chr11:46699401..46701955-chr11:46706873..46709841,3	K562	blood:
6	chr11:46682346..46685805-chr11:46707904..46710908,3	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57479473	0.93[AFR][1000 genomes]
rs73451865	0.87[AFR][1000 genomes]
rs73451868	0.93[AFR][1000 genomes]
rs73451873	0.93[AFR][1000 genomes]
rs73451887	0.93[AFR][1000 genomes]
rs73454018	1.00[AFR][1000 genomes]
rs73454026	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46697200-46716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:46698000-46718600	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr11:46698400-46719400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:46699200-46715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:46699200-46716400	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:46699200-46717000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:46699200-46717200	Strong transcription	Liver	Liver
10	chr11:46699200-46719000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:46699800-46715200	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:46700400-46714000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:46700400-46718800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:46700600-46715400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:46701400-46710600	Strong transcription	Fetal Intestine Small	intestine
16	chr11:46701800-46715400	Weak transcription	K562	blood
17	chr11:46701800-46718600	Strong transcription	Fetal Intestine Large	intestine
18	chr11:46702000-46715800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:46702600-46721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:46702800-46716000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:46702800-46716600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:46702800-46718400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:46703000-46715000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:46703000-46715200	Weak transcription	Hela-S3	cervix
25	chr11:46703000-46721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:46703400-46716400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:46703600-46713400	Weak transcription	Ovary	ovary
28	chr11:46703800-46714000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:46704400-46716800	Weak transcription	Small Intestine	intestine
30	chr11:46704800-46710200	Genic enhancers	Brain Hippocampus Middle	brain
31	chr11:46705600-46710000	Strong transcription	HepG2	liver
32	chr11:46706600-46718000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:46707000-46719000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:46707200-46709800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:46707200-46716000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:46707200-46716600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:46707200-46719000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:46707400-46711200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:46707400-46716400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:46707400-46718400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:46707600-46710200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:46707600-46711200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:46707600-46711800	Strong transcription	Thymus	Thymus
44	chr11:46707600-46714200	Strong transcription	Primary T cells from cord blood	blood
45	chr11:46707600-46716600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:46707600-46718600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:46707600-46719000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:46707800-46709800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:46707800-46710000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:46707800-46710000	Genic enhancers	Fetal Thymus	thymus

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