Variant report

Variant	rs74088041
Chromosome Location	chr14:104030574-104030575
allele	A/C
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	SIN3A	chr14:104030559-104030720	GM12878	blood:	n/a	n/a
2	CTCF	chr14:104030440-104030590	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:104030460-104030610	MCF-7	breast:	n/a	n/a
4	MXI1	chr14:104027798-104030910	SK-N-SH	brain:	n/a	chr14:104030620-104030635 chr14:104030622-104030637

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
3	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
4	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
5	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
6	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:

Variant related genes	Relation type
BAG5	TF binding region
RNU4-68P	TF binding region
ENSG00000126214	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000269963	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55967910	1.00[AFR][1000 genomes]
rs58810431	0.96[AFR][1000 genomes]
rs74085203	0.96[AFR][1000 genomes]
rs74085205	0.96[AFR][1000 genomes]
rs74085211	0.96[AFR][1000 genomes]
rs74088027	1.00[AFR][1000 genomes]
rs74088030	1.00[AFR][1000 genomes]
rs74088034	1.00[AFR][1000 genomes]
rs74088040	1.00[AFR][1000 genomes]
rs74088043	1.00[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	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104027400-104030600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:104027400-104030800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:104027400-104030800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:104027600-104030600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:104027600-104030800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:104027600-104030800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:104027600-104030800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:104027600-104030800	Active TSS	NHLF	lung
9	chr14:104027800-104030600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr14:104027800-104030600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:104027800-104030600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:104027800-104030600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:104027800-104030600	Active TSS	A549	lung
14	chr14:104027800-104030600	Active TSS	HSMM	muscle
15	chr14:104027800-104030800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:104028000-104030600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:104028000-104030600	Active TSS	Psoas Muscle	Psoas
18	chr14:104028000-104030600	Active TSS	NHDF-Ad	bronchial
19	chr14:104028200-104030600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:104028200-104030600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr14:104028200-104030600	Active TSS	Small Intestine	intestine
22	chr14:104028200-104030600	Active TSS	HSMMtube	muscle
23	chr14:104028200-104030600	Active TSS	K562	blood
24	chr14:104029400-104030600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr14:104029400-104030800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr14:104029600-104030600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr14:104029600-104030800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:104029600-104030800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr14:104029800-104030600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:104029800-104030600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr14:104029800-104030600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:104029800-104030600	Flanking Active TSS	Thymus	Thymus
33	chr14:104029800-104030800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:104029800-104030800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr14:104029800-104030800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr14:104029800-104030800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:104029800-104030800	Flanking Active TSS	Liver	Liver
38	chr14:104029800-104030800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:104029800-104030800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr14:104029800-104030800	Flanking Active TSS	Fetal Brain Female	brain
41	chr14:104029800-104030800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr14:104029800-104030800	Flanking Active TSS	Dnd41	blood
43	chr14:104029800-104030800	Flanking Active TSS	NH-A	brain
44	chr14:104029800-104031000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:104030000-104030600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:104030000-104030600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:104030000-104030600	Flanking Active TSS	Fetal Stomach	stomach
48	chr14:104030000-104030600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:104030000-104030800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:104030000-104030800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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