Variant report

Variant	rs1489193
Chromosome Location	chr11:46485199-46485200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46480834..46483230-chr11:46484591..46487303,2	K562	blood:
2	chr11:46483527..46486367-chr11:46487935..46489569,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11038924	1.00[YRI][hapmap]
rs1466634	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1489189	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1489190	1.00[YRI][hapmap]
rs1873129	1.00[YRI][hapmap]
rs2029378	1.00[YRI][hapmap]
rs2087360	1.00[YRI][hapmap]
rs2864071	1.00[YRI][hapmap]
rs2864836	1.00[YRI][hapmap]
rs35935319	1.00[YRI][hapmap]
rs4376875	1.00[YRI][hapmap]
rs4550197	1.00[YRI][hapmap]
rs6485681	1.00[YRI][hapmap]
rs7928869	1.00[YRI][hapmap]
rs7942788	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs967754	1.00[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	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	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
3	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46455200-46488800	Weak transcription	Hela-S3	cervix
2	chr11:46455400-46492200	Weak transcription	A549	lung
3	chr11:46456600-46493600	Weak transcription	Colonic Mucosa	Colon
4	chr11:46456800-46494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:46464200-46489200	Weak transcription	Thymus	Thymus
7	chr11:46464200-46489400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:46464400-46489600	Weak transcription	Placenta	Placenta
10	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:46465200-46489200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46465200-46489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:46465200-46489400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:46465200-46489400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:46465200-46494600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:46465200-46504400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:46465400-46489400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:46465600-46489400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:46465600-46511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:46465800-46486800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:46466000-46488800	Weak transcription	Dnd41	blood
22	chr11:46466200-46496200	Weak transcription	GM12878-XiMat	blood
23	chr11:46468000-46493600	Weak transcription	Right Ventricle	heart
24	chr11:46468400-46485400	Weak transcription	Right Atrium	heart
25	chr11:46468400-46489400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:46468400-46492200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:46468600-46489400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:46468600-46493800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:46468800-46485400	Weak transcription	Fetal Stomach	stomach
30	chr11:46470400-46489000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:46470800-46497600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:46473000-46493600	Weak transcription	Ovary	ovary
33	chr11:46473200-46485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:46473200-46490200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:46473200-46492200	Weak transcription	NH-A	brain
36	chr11:46473200-46492400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:46475600-46486400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:46475600-46487200	Weak transcription	Stomach Mucosa	stomach
39	chr11:46476800-46486200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:46477600-46485400	Weak transcription	Brain Anterior Caudate	brain
41	chr11:46478000-46488600	Weak transcription	Primary B cells from cord blood	blood
42	chr11:46478000-46489400	Weak transcription	Primary T cells from cord blood	blood
43	chr11:46478400-46485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:46478400-46504800	Weak transcription	Fetal Kidney	kidney
45	chr11:46478600-46485400	Weak transcription	Fetal Brain Female	brain
46	chr11:46478800-46485200	Weak transcription	Left Ventricle	heart
47	chr11:46478800-46485400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:46478800-46489200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:46479000-46489200	Weak transcription	Fetal Thymus	thymus
50	chr11:46479000-46493800	Weak transcription	Psoas Muscle	Psoas

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