Variant report

Variant	rs7945513
Chromosome Location	chr11:102309323-102309324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102308446..102310865-chr11:102321993..102324516,2	MCF-7	breast:
2	chr11:102306119..102309748-chr11:102314696..102317060,3	K562	blood:
3	chr11:102306851..102309748-chr11:102315391..102317524,3	K562	blood:

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12281951	1.00[AMR][1000 genomes]
rs12286551	1.00[AMR][1000 genomes]
rs17098241	1.00[AMR][1000 genomes]
rs17878891	1.00[AMR][1000 genomes]
rs17883028	1.00[AMR][1000 genomes]
rs17884964	1.00[AMR][1000 genomes]
rs17887192	1.00[AMR][1000 genomes]
rs35806428	1.00[AFR][1000 genomes]
rs7927794	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7942413	0.83[YRI][hapmap];1.00[AMR][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	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
2	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
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102293000-102316000	Weak transcription	HUVEC	blood vessel
2	chr11:102298200-102316000	Weak transcription	Fetal Lung	lung
3	chr11:102300400-102319800	Weak transcription	Fetal Kidney	kidney
4	chr11:102300800-102316600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:102300800-102320600	Weak transcription	Ovary	ovary
6	chr11:102301200-102320800	Weak transcription	Left Ventricle	heart
7	chr11:102301400-102316200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:102301400-102316600	Weak transcription	NHLF	lung
9	chr11:102301400-102319800	Weak transcription	Pancreas	Pancrea
10	chr11:102301400-102320600	Weak transcription	Right Ventricle	heart
11	chr11:102301400-102320800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:102301400-102321000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:102301400-102322400	Weak transcription	Spleen	Spleen
14	chr11:102301600-102316600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:102301800-102309600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:102301800-102316800	Weak transcription	HSMMtube	muscle
17	chr11:102302400-102309600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:102302400-102309600	ZNF genes & repeats	GM12878-XiMat	blood
19	chr11:102302400-102318000	Weak transcription	Small Intestine	intestine
20	chr11:102304000-102309400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:102304000-102309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:102304000-102309400	Weak transcription	Colonic Mucosa	Colon
23	chr11:102304000-102309400	Weak transcription	Gastric	stomach
24	chr11:102304000-102316400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:102304000-102316600	Weak transcription	HMEC	breast
26	chr11:102304000-102317000	Weak transcription	NH-A	brain
27	chr11:102304000-102320600	Weak transcription	Fetal Brain Female	brain
28	chr11:102304000-102322400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:102304200-102309400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:102304200-102309400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:102304200-102309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:102304200-102322000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:102304400-102316000	Weak transcription	NHEK	skin
34	chr11:102304600-102309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:102304600-102309600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr11:102304600-102310200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:102304800-102309800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:102305000-102310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:102306400-102309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:102306400-102310200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:102306600-102310000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:102306800-102319800	Weak transcription	Hela-S3	cervix
43	chr11:102306800-102320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:102307000-102309400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:102307000-102309600	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:102307000-102309600	Strong transcription	Dnd41	blood
47	chr11:102307000-102316200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:102307200-102309400	Genic enhancers	Primary T cells from cord blood	blood
49	chr11:102307200-102309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:102307400-102309600	Strong transcription	Rectal Mucosa Donor 29	rectum

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