Variant report

Variant	rs73489942
Chromosome Location	chr11:75541787-75541788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75523241..75526471-chr11:75537814..75541903,3	MCF-7	breast:
2	chr11:75525737..75528395-chr11:75541535..75543896,2	K562	blood:
3	chr11:75541747..75543499-chr11:75565051..75567599,2	K562	blood:

Variant related genes	Relation type
ENSG00000255507	Chromatin interaction
ENSG00000198382	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs61459412	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489931	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504565	0.88[AFR][1000 genomes]
rs73504569	0.88[AFR][1000 genomes]
rs73504572	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504578	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504601	1.00[AMR][1000 genomes]
rs7929403	0.83[AFR][1000 genomes]
rs7933029	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528200-75549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:75528200-75553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:75528400-75543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:75528400-75550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:75528400-75561600	Weak transcription	HSMM	muscle
6	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:75528600-75543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
9	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
10	chr11:75528600-75563600	Weak transcription	Dnd41	blood
11	chr11:75528800-75547200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:75529200-75544400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:75529200-75544400	Weak transcription	Fetal Brain Male	brain
14	chr11:75532200-75551000	Weak transcription	NHEK	skin
15	chr11:75532400-75551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:75533600-75549000	Weak transcription	K562	blood
17	chr11:75534800-75542600	Weak transcription	Fetal Thymus	thymus
18	chr11:75534800-75544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:75534800-75549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:75535000-75547200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:75535200-75543600	Weak transcription	Small Intestine	intestine
22	chr11:75535400-75545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:75535400-75550000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:75535400-75560800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
26	chr11:75535600-75550800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:75535600-75556200	Weak transcription	A549	lung
28	chr11:75535800-75573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:75536600-75543200	Weak transcription	Right Ventricle	heart
30	chr11:75536800-75542600	Weak transcription	Hela-S3	cervix
31	chr11:75536800-75543200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:75536800-75543200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:75537000-75543200	Weak transcription	Spleen	Spleen
34	chr11:75537000-75547000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:75537000-75548800	Weak transcription	Fetal Stomach	stomach
36	chr11:75537600-75549000	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:75538000-75543000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:75538000-75543200	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:75538000-75551400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:75538000-75563000	Weak transcription	HepG2	liver
41	chr11:75538200-75542400	Weak transcription	NHLF	lung
42	chr11:75538200-75543000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:75538200-75543200	Weak transcription	Psoas Muscle	Psoas
44	chr11:75538200-75544000	Enhancers	Adipose Nuclei	Adipose
45	chr11:75538200-75548800	Weak transcription	Fetal Intestine Small	intestine
46	chr11:75538200-75551400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:75538400-75542200	Weak transcription	HSMMtube	muscle
48	chr11:75538400-75546800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:75538600-75567600	Weak transcription	Placenta	Placenta
50	chr11:75538800-75546400	Weak transcription	Fetal Muscle Trunk	muscle

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