Variant report

Variant	rs17101932
Chromosome Location	chr14:104384558-104384559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104383857-104384653	K562	blood:	n/a	n/a
2	POLR2A	chr14:104383825-104384665	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104383999..104386148-chr14:104386377..104388170,2	MCF-7	breast:
2	chr14:104380212..104384984-chr14:104386073..104389493,7	MCF-7	breast:
3	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
4	chr14:104382782..104384998-chr14:104387935..104389559,2	K562	blood:
5	chr14:104380356..104382278-chr14:104382804..104385092,2	MCF-7	breast:
6	chr14:104383824..104385771-chr14:104411318..104413343,2	K562	blood:
7	chr14:104377058..104380322-chr14:104382660..104385611,3	MCF-7	breast:
8	chr14:104384353..104387196-chr14:104404625..104406851,3	MCF-7	breast:
9	chr14:104383824..104386788-chr14:104411318..104413343,3	K562	blood:

No data

Variant related genes	Relation type
C14orf2	TF binding region
ENSG00000258735	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10131031	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10131231	1.00[EUR][1000 genomes]
rs1951580	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951587	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2295662	1.00[EUR][1000 genomes]
rs28407129	1.00[EUR][1000 genomes]
rs28432266	0.83[EUR][1000 genomes]
rs28439019	1.00[EUR][1000 genomes]
rs45471291	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45540638	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4900603	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs57047619	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57408815	0.82[AFR][1000 genomes]
rs57711557	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57827261	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58071582	1.00[EUR][1000 genomes]
rs58557120	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59945383	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60080575	0.86[EUR][1000 genomes]
rs60532123	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61451840	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576015	0.86[EUR][1000 genomes]
rs7144445	1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7156752	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7157034	0.86[EUR][1000 genomes]
rs7158035	0.86[EUR][1000 genomes]
rs74086762	1.00[EUR][1000 genomes]
rs74089114	0.86[EUR][1000 genomes]
rs8020476	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs8021647	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs8022184	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104375000-104385800	Weak transcription	Small Intestine	intestine
3	chr14:104376000-104384800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:104376800-104386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104376800-104387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:104376800-104387000	Weak transcription	Stomach Mucosa	stomach
7	chr14:104377200-104384800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:104377200-104385600	Strong transcription	Fetal Intestine Small	intestine
9	chr14:104377200-104386400	Weak transcription	Fetal Heart	heart
10	chr14:104377200-104386800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:104377400-104384600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:104377400-104384600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:104377400-104384600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:104377400-104384600	Strong transcription	Liver	Liver
15	chr14:104377400-104384600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:104377400-104384600	Strong transcription	Fetal Intestine Large	intestine
17	chr14:104377400-104384600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:104377400-104384600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:104377400-104384800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:104377400-104384800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:104377400-104384800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:104377400-104384800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:104377400-104384800	Strong transcription	Thymus	Thymus
24	chr14:104377400-104385200	Strong transcription	Fetal Brain Female	brain
25	chr14:104377400-104385200	Strong transcription	Fetal Muscle Leg	muscle
26	chr14:104377400-104386000	Strong transcription	Fetal Stomach	stomach
27	chr14:104377600-104384600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:104377600-104384600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:104377600-104384600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:104377600-104384600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:104377600-104384600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr14:104377600-104384600	Strong transcription	A549	lung
33	chr14:104377600-104384800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:104377600-104384800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:104377600-104384800	Strong transcription	Fetal Thymus	thymus
36	chr14:104377600-104385200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:104377800-104384600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:104377800-104384600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:104377800-104384600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:104377800-104384600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:104377800-104384600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:104377800-104384600	Strong transcription	Brain Anterior Caudate	brain
43	chr14:104377800-104384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:104377800-104384800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:104378000-104385200	Strong transcription	Lung	lung
46	chr14:104378000-104385800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:104378000-104387200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:104378200-104384600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:104378200-104384600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:104378200-104384600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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