Variant report

Variant	rs7128483
Chromosome Location	chr11:85962294-85962295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85961055..85963949-chr11:85977588..85979820,2	MCF-7	breast:
2	chr11:85961099..85962736-chr11:85974379..85975917,2	K562	blood:
3	chr11:85961896..85964300-chr11:85972097..85973858,2	K562	blood:
4	chr11:85953211..85960614-chr11:85961214..85967523,10	K562	blood:
5	chr11:85953211..85956720-chr11:85962285..85965170,5	K562	blood:
6	chr11:85954444..85957790-chr11:85960392..85964072,7	MCF-7	breast:
7	chr11:85960754..85963363-chr12:2217354..2219874,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1452139	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17210259	0.81[AFR][1000 genomes]
rs17817659	0.81[AFR][1000 genomes]
rs1901549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2374699	0.81[AFR][1000 genomes]
rs2374700	0.81[AFR][1000 genomes]
rs2374701	0.81[AFR][1000 genomes]
rs3851188	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs6592277	0.96[AFR][1000 genomes]
rs7112457	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7116441	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123456	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7126165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127311	1.00[YRI][hapmap]
rs7128001	0.86[AFR][1000 genomes]
rs7128843	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7931056	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938966	0.91[YRI][hapmap]
rs7943278	0.92[YRI][hapmap]
rs7946689	0.96[AFR][1000 genomes]
rs7952593	0.82[YRI][hapmap]

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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957000-85963800	Weak transcription	Spleen	Spleen
2	chr11:85957200-85963800	Weak transcription	Lung	lung
3	chr11:85957200-85972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:85957200-85972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:85957200-85972400	Weak transcription	Esophagus	oesophagus
6	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:85957400-85962400	Weak transcription	Placenta	Placenta
8	chr11:85957400-85967600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:85957400-85985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
11	chr11:85957800-85962600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:85957800-85962800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:85957800-85967800	Weak transcription	Thymus	Thymus
14	chr11:85957800-85968000	Weak transcription	HSMMtube	muscle
15	chr11:85957800-85968600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:85957800-85968600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
18	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:85958000-85963400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:85958200-85962400	Weak transcription	Osteobl	bone
21	chr11:85958400-85963800	Weak transcription	Fetal Intestine Small	intestine
22	chr11:85958400-85963800	Weak transcription	Fetal Stomach	stomach
23	chr11:85958400-85966200	Weak transcription	NH-A	brain
24	chr11:85958400-85966400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:85958400-85972400	Weak transcription	Aorta	Aorta
26	chr11:85958400-85997200	Weak transcription	Brain Germinal Matrix	brain
27	chr11:85958800-85967000	Weak transcription	HSMM	muscle
28	chr11:85959200-85963800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:85959200-85963800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:85959200-85967000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:85959200-85967000	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:85959200-85967800	Weak transcription	Fetal Intestine Large	intestine
33	chr11:85959200-85974000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:85959200-85988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:85959200-85988600	Weak transcription	Brain Angular Gyrus	brain
36	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:85959400-85962600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:85959400-85967400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:85959400-85995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:85960000-85963800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:85960000-85968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:85960000-85970800	Weak transcription	Fetal Brain Female	brain
43	chr11:85960000-85972400	Weak transcription	Pancreas	Pancrea
44	chr11:85960200-85962600	Weak transcription	K562	blood
45	chr11:85960200-85966800	Weak transcription	Liver	Liver
46	chr11:85960200-85967000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:85960200-85967200	Weak transcription	HepG2	liver
48	chr11:85960200-85967400	Weak transcription	Left Ventricle	heart
49	chr11:85960200-85967400	Weak transcription	HMEC	breast
50	chr11:85960200-85968000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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