Variant report

Variant	rs6576011
Chromosome Location	chr14:104388392-104388393
allele	A/T
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	CTCF	chr14:104387235-104388538	A549	lung:	n/a	n/a
2	MXI1	chr14:104387090-104388629	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr14:104387142-104388423	SK-N-SH	brain:	n/a	chr14:104387967-104387981 chr14:104387394-104387406
4	CTCF	chr14:104387210-104388393	SK-N-SH	brain:	n/a	n/a
5	EGR1	chr14:104388183-104388455	K562	blood:	n/a	n/a
6	EGR1	chr14:104388169-104388451	K562	blood:	n/a	n/a
7	POLR2A	chr14:104387137-104388397	SK-N-MC	brain:	n/a	n/a
8	MXI1	chr14:104387012-104388398	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104380212..104384984-chr14:104386073..104389493,7	MCF-7	breast:
2	chr14:104382782..104384998-chr14:104387935..104389559,2	K562	blood:
3	chr14:104387945..104390196-chr14:104396396..104397958,2	MCF-7	breast:
4	chr14:104385710..104388983-chr14:104393675..104397966,4	MCF-7	breast:
5	chr14:104387889..104389624-chr14:104583359..104585962,2	MCF-7	breast:

Variant related genes	Relation type
C14orf2	TF binding region
ENSG00000156414	Chromatin interaction
ENSG00000207568	Chromatin interaction
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28570451	0.80[AFR][1000 genomes]
rs28576742	0.88[AFR][1000 genomes]
rs28612170	0.82[AFR][1000 genomes]
rs6576000	1.00[EUR][1000 genomes]
rs7143553	1.00[EUR][1000 genomes]
rs7143676	1.00[EUR][1000 genomes]
rs7144187	1.00[EUR][1000 genomes]
rs7145523	1.00[EUR][1000 genomes]
rs7145879	1.00[EUR][1000 genomes]
rs7149867	1.00[EUR][1000 genomes]
rs7150741	1.00[EUR][1000 genomes]
rs7151380	1.00[EUR][1000 genomes]
rs7153756	1.00[EUR][1000 genomes]
rs7159709	1.00[EUR][1000 genomes]
rs74089106	1.00[EUR][1000 genomes]
rs8006215	1.00[EUR][1000 genomes]
rs8007542	1.00[EUR][1000 genomes]
rs8016475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr14:104386200-104388400	Active TSS	Hela-S3	cervix
2	chr14:104386800-104388400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:104386800-104388400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:104386800-104388400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:104386800-104388400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:104386800-104388400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:104386800-104388400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:104386800-104388400	Active TSS	A549	lung
9	chr14:104386800-104388400	Active TSS	HSMM	muscle
10	chr14:104386800-104388400	Active TSS	NHLF	lung
11	chr14:104387000-104388400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:104387000-104388400	Active TSS	Brain Cingulate Gyrus	brain
13	chr14:104387200-104388400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:104387200-104388400	Active TSS	Brain Hippocampus Middle	brain
15	chr14:104387200-104388400	Active TSS	Right Ventricle	heart
16	chr14:104387200-104388400	Active TSS	NHEK	skin
17	chr14:104387400-104388400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:104387400-104388400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:104387400-104388400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr14:104387400-104388400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:104387400-104388400	Active TSS	Brain Anterior Caudate	brain
22	chr14:104387400-104388400	Active TSS	Brain Germinal Matrix	brain
23	chr14:104387400-104388400	Active TSS	HUVEC	blood vessel
24	chr14:104387400-104388600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr14:104387600-104388400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:104387600-104388400	Active TSS	Fetal Brain Female	brain
27	chr14:104387600-104388400	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr14:104387600-104388400	Active TSS	HepG2	liver
29	chr14:104387800-104388400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:104388000-104388400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:104388000-104388400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr14:104388000-104388400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:104388000-104388400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:104388000-104388400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr14:104388000-104388400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:104388000-104388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:104388000-104388400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:104388000-104388400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:104388000-104388400	Enhancers	Colon Smooth Muscle	Colon
40	chr14:104388000-104388400	Flanking Active TSS	Fetal Brain Male	brain
41	chr14:104388000-104388400	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr14:104388000-104388400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr14:104388000-104388400	Enhancers	Left Ventricle	heart
44	chr14:104388000-104388400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr14:104388000-104388400	Flanking Active TSS	Dnd41	blood
46	chr14:104388000-104388400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr14:104388200-104388400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:104388200-104388400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:104388200-104388400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr14:104388200-104388400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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