Variant report

Variant	rs11860625
Chromosome Location	chr16:70513372-70513373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70510287..70517781-chr16:70555054..70559513,7	MCF-7	breast:
2	chr16:70406308..70408837-chr16:70511303..70514267,2	MCF-7	breast:
3	chr16:70381919..70383634-chr16:70512388..70514213,2	K562	blood:
4	chr16:70503433..70505616-chr16:70512228..70514633,3	K562	blood:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16970184	0.92[AFR][1000 genomes]
rs17879102	1.00[AMR][1000 genomes]
rs17879135	0.89[AFR][1000 genomes]
rs17879236	0.83[AFR][1000 genomes]
rs17879684	1.00[AMR][1000 genomes]
rs17879964	1.00[AMR][1000 genomes]
rs17882414	1.00[AMR][1000 genomes]
rs17882471	0.86[AFR][1000 genomes]
rs17882726	0.89[AFR][1000 genomes]
rs17883115	0.89[AFR][1000 genomes]
rs17884097	0.89[AFR][1000 genomes]
rs17884146	0.89[AFR][1000 genomes]
rs17885314	0.89[AFR][1000 genomes]
rs17885495	1.00[AMR][1000 genomes]
rs17885948	0.88[AFR][1000 genomes]
rs17886996	1.00[AMR][1000 genomes]
rs56331609	1.00[AMR][1000 genomes]
rs57326693	1.00[AMR][1000 genomes]
rs57384881	0.82[AFR][1000 genomes]
rs57525508	0.85[AMR][1000 genomes]
rs58592676	1.00[AMR][1000 genomes]
rs60237114	0.89[AFR][1000 genomes]
rs60470914	0.89[AFR][1000 genomes]
rs60939494	0.85[AMR][1000 genomes]
rs61610761	1.00[AMR][1000 genomes]
rs7196785	0.85[AFR][1000 genomes]
rs7199145	0.86[AFR][1000 genomes]
rs7199719	0.83[AFR][1000 genomes]
rs74024201	0.83[AMR][1000 genomes]
rs74026021	0.83[AMR][1000 genomes]
rs74026023	1.00[AMR][1000 genomes]
rs74026025	1.00[AMR][1000 genomes]
rs74026029	1.00[AMR][1000 genomes]
rs74026046	1.00[AMR][1000 genomes]
rs74026048	1.00[AMR][1000 genomes]
rs8049316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	esv1828600	chr16:70500809-70515355	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1812578	chr16:70504305-70515355	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
5	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
6	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
8	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
9	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
10	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
11	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
12	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:70504400-70535200	Strong transcription	Liver	Liver
16	chr16:70505800-70515600	Weak transcription	K562	blood
17	chr16:70506000-70518200	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr16:70506200-70515800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:70506200-70518800	Strong transcription	Brain Cingulate Gyrus	brain
20	chr16:70506200-70524000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:70506400-70517400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr16:70506600-70522800	Weak transcription	Fetal Brain Male	brain
24	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr16:70506800-70518000	Strong transcription	Pancreas	Pancrea
26	chr16:70507000-70518800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:70507000-70518800	Strong transcription	Fetal Brain Female	brain
28	chr16:70507000-70520400	Strong transcription	Brain Anterior Caudate	brain
29	chr16:70508800-70514200	Genic enhancers	Placenta	Placenta
30	chr16:70509400-70513600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:70509400-70515400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:70509800-70513600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:70509800-70514000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:70509800-70516000	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:70510600-70514000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr16:70510600-70519000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr16:70510800-70518800	Strong transcription	Primary B cells from cord blood	blood
38	chr16:70511000-70513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:70511000-70513600	Weak transcription	HSMM	muscle
40	chr16:70511000-70514200	Weak transcription	Fetal Heart	heart
41	chr16:70511000-70515600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:70511000-70515800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:70511000-70527400	Weak transcription	Psoas Muscle	Psoas
44	chr16:70511200-70513400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:70511400-70515600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:70511400-70526200	Strong transcription	Thymus	Thymus
47	chr16:70511600-70514200	Genic enhancers	Lung	lung
48	chr16:70511600-70514400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr16:70511600-70524200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:70511800-70513400	Strong transcription	Colonic Mucosa	Colon

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