Variant report

Variant	rs17884964
Chromosome Location	chr11:102193164-102193165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:102193112-102193739	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:102192392-102193882	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:102192936-102193710	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:102192209-102194258	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:102186664-102199529	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102191111..102193530-chr11:102215837..102217502,2	MCF-7	breast:

Variant related genes	Relation type
BIRC3	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12281951	1.00[AMR][1000 genomes]
rs12286551	1.00[AMR][1000 genomes]
rs17097416	1.00[AMR][1000 genomes]
rs17097419	1.00[AMR][1000 genomes]
rs17097421	1.00[AMR][1000 genomes]
rs17098241	1.00[AMR][1000 genomes]
rs17878891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17887192	1.00[AMR][1000 genomes]
rs1981420	1.00[AMR][1000 genomes]
rs7114012	1.00[AMR][1000 genomes]
rs73577861	1.00[AMR][1000 genomes]
rs73577866	1.00[AMR][1000 genomes]
rs73577873	1.00[AMR][1000 genomes]
rs73577877	1.00[AMR][1000 genomes]
rs73582003	1.00[AMR][1000 genomes]
rs73582018	1.00[AMR][1000 genomes]
rs7942413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945513	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases
8	nsv556142	chr11:102192574-102202015	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102188200-102193800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:102188800-102193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:102188800-102193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
5	chr11:102189000-102193200	Weak transcription	NH-A	brain
6	chr11:102189200-102193600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:102189200-102194200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
8	chr11:102189200-102197600	Weak transcription	Fetal Intestine Small	intestine
9	chr11:102189400-102193400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:102189400-102193600	Weak transcription	HSMM	muscle
11	chr11:102189400-102194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:102189400-102197400	Weak transcription	Adipose Nuclei	Adipose
13	chr11:102189400-102205800	Weak transcription	Psoas Muscle	Psoas
14	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
16	chr11:102189600-102193600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:102189600-102193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:102189600-102194400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:102189600-102200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:102189600-102200800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:102189600-102200800	Weak transcription	Left Ventricle	heart
22	chr11:102189800-102194000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:102189800-102194400	Weak transcription	HMEC	breast
24	chr11:102189800-102196200	Weak transcription	Liver	Liver
25	chr11:102190000-102196400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr11:102190600-102194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:102190600-102196000	Enhancers	Hela-S3	cervix
28	chr11:102190600-102197000	Weak transcription	Colonic Mucosa	Colon
29	chr11:102190600-102202800	Weak transcription	Pancreas	Pancrea
30	chr11:102190800-102195400	Weak transcription	Small Intestine	intestine
31	chr11:102191000-102194200	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:102191200-102194200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
33	chr11:102191200-102195200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:102191200-102197000	Weak transcription	Gastric	stomach
35	chr11:102191200-102216800	Weak transcription	Aorta	Aorta
36	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
37	chr11:102191400-102194800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:102191400-102197000	Weak transcription	Lung	lung
39	chr11:102191600-102195200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:102191600-102197000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:102191600-102197000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:102191600-102202600	Weak transcription	Stomach Mucosa	stomach
43	chr11:102191600-102216600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:102191800-102193400	Active TSS	Thymus	Thymus
45	chr11:102191800-102194000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:102191800-102195200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:102191800-102195600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:102191800-102197000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:102191800-102197000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:102191800-102200800	Weak transcription	Spleen	Spleen

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