Variant report

Variant	rs60014570
Chromosome Location	chr14:104287700-104287701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104283950..104288304-chr14:104311020..104314888,6	MCF-7	breast:
2	chr14:104284106..104288227-chr14:104321092..104325164,4	MCF-7	breast:
3	chr14:104283064..104288845-chr14:104312229..104317250,12	MCF-7	breast:
4	chr14:104286358..104288545-chr14:104303445..104306380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088808	Chromatin interaction
ENSG00000258735	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55797395	0.81[AFR][1000 genomes]
rs56209256	0.81[AFR][1000 genomes]
rs56253620	0.81[AFR][1000 genomes]
rs58073768	0.90[AFR][1000 genomes]
rs58442831	0.81[AFR][1000 genomes]
rs59439840	1.00[AFR][1000 genomes]
rs74086476	0.90[AFR][1000 genomes]
rs74086478	1.00[AFR][1000 genomes]
rs74086745	1.00[AFR][1000 genomes]
rs74086746	1.00[AFR][1000 genomes]
rs74086749	1.00[AFR][1000 genomes]
rs74086750	0.90[AFR][1000 genomes]
rs74086754	0.90[AFR][1000 genomes]
rs74086755	0.90[AFR][1000 genomes]
rs74086758	0.90[AFR][1000 genomes]
rs74086769	0.81[AFR][1000 genomes]
rs74086775	0.81[AFR][1000 genomes]
rs74086785	0.81[AFR][1000 genomes]
rs74086982	0.81[AFR][1000 genomes]
rs74089537	0.81[AFR][1000 genomes]
rs74089539	0.81[AFR][1000 genomes]
rs74089546	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	nsv902320	chr14:104274294-104308095	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104280800-104294800	Weak transcription	Small Intestine	intestine
2	chr14:104283000-104288400	Enhancers	Fetal Heart	heart
3	chr14:104286000-104287800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:104286000-104287800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:104286000-104288000	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:104286200-104287800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:104286200-104294800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:104286400-104287800	Enhancers	HUVEC	blood vessel
9	chr14:104286400-104288000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:104286600-104287800	Weak transcription	Psoas Muscle	Psoas
11	chr14:104286600-104288000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr14:104286600-104291400	Weak transcription	Fetal Intestine Large	intestine
13	chr14:104286600-104294800	Weak transcription	Brain Angular Gyrus	brain
14	chr14:104286600-104303400	Weak transcription	Spleen	Spleen
15	chr14:104286800-104287800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:104286800-104287800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:104286800-104287800	Enhancers	GM12878-XiMat	blood
18	chr14:104286800-104287800	Enhancers	HepG2	liver
19	chr14:104286800-104289600	Weak transcription	Stomach Mucosa	stomach
20	chr14:104286800-104291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:104286800-104291200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:104286800-104291200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:104287000-104289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:104287000-104289600	Weak transcription	Right Atrium	heart
25	chr14:104287000-104294800	Weak transcription	Adipose Nuclei	Adipose
26	chr14:104287200-104288400	Enhancers	Duodenum Mucosa	Duodenum
27	chr14:104287200-104289200	Weak transcription	Pancreas	Pancrea
28	chr14:104287200-104291000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:104287200-104291400	Weak transcription	Fetal Intestine Small	intestine
30	chr14:104287200-104291400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:104287200-104294800	Weak transcription	Ovary	ovary
32	chr14:104287200-104294800	Weak transcription	Right Ventricle	heart
33	chr14:104287400-104287800	Weak transcription	Left Ventricle	heart
34	chr14:104287400-104290200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:104287400-104291200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:104287400-104291400	Weak transcription	Fetal Kidney	kidney
37	chr14:104287600-104287800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:104287600-104291200	Weak transcription	Liver	Liver
39	chr14:104287600-104294800	Weak transcription	Fetal Lung	lung

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