Variant report

Variant	rs17108941
Chromosome Location	chr14:71503459-71503460
allele	C/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	GATA3	chr14:71503178-71503499	T-47D	breast:	n/a	n/a
2	SIN3AK20	chr14:71503008-71503587	MCF-7	breast:	n/a	n/a
3	JUND	chr14:71503296-71503513	HepG2	liver:	n/a	n/a
4	FOXA1	chr14:71503147-71503502	T-47D	breast:	n/a	n/a
5	GATA3	chr14:71503076-71503603	MCF-7	breast:	n/a	n/a
6	GATA3	chr14:71503181-71503549	T-47D	breast:	n/a	n/a
7	FOXA1	chr14:71503106-71503459	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000258930	TF binding region

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129880	1.00[AMR][1000 genomes]
rs10136814	1.00[AMR][1000 genomes]
rs10139846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140169	1.00[AMR][1000 genomes]
rs10142779	1.00[AMR][1000 genomes]
rs10144794	1.00[AMR][1000 genomes]
rs10150546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162544	1.00[AFR][1000 genomes]
rs10220367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10438163	1.00[AFR][1000 genomes]
rs13379253	1.00[AMR][1000 genomes]
rs17093725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108684	1.00[AMR][1000 genomes]
rs17108903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108961	1.00[AMR][1000 genomes]
rs17108970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450258	1.00[AMR][1000 genomes]
rs28516802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28742977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28838938	1.00[AMR][1000 genomes]
rs9323554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806048	1.00[AMR][1000 genomes]
rs9989187	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71426000-71508800	Weak transcription	Psoas Muscle	Psoas
2	chr14:71445200-71510800	Weak transcription	Colonic Mucosa	Colon
3	chr14:71469600-71506200	Weak transcription	Fetal Heart	heart
4	chr14:71477200-71503600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:71483800-71506200	Weak transcription	Brain Substantia Nigra	brain
6	chr14:71485000-71503600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:71487800-71503600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:71488200-71503600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:71488400-71503600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:71488800-71503600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:71489000-71506000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:71489200-71503600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:71489600-71503600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:71489800-71503600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:71490200-71506000	Weak transcription	HUVEC	blood vessel
16	chr14:71490600-71503600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:71490800-71503600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:71490800-71503600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:71491200-71503600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:71493400-71503600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:71494800-71503600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:71495200-71503600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:71495400-71503600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:71495400-71503600	Strong transcription	Adipose Nuclei	Adipose
25	chr14:71495400-71503600	Strong transcription	HSMM	muscle
26	chr14:71495400-71503600	Strong transcription	NH-A	brain
27	chr14:71495800-71503600	Strong transcription	Liver	Liver
28	chr14:71495800-71546200	Weak transcription	Stomach Mucosa	stomach
29	chr14:71496000-71503600	Strong transcription	Primary B cells from cord blood	blood
30	chr14:71496000-71503600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:71496000-71503600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:71496200-71503600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:71496400-71503600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:71496400-71503600	Strong transcription	Fetal Thymus	thymus
35	chr14:71497000-71506000	Weak transcription	Fetal Brain Male	brain
36	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:71497800-71503600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:71498600-71503600	Strong transcription	Osteobl	bone
39	chr14:71498600-71510800	Weak transcription	Esophagus	oesophagus
40	chr14:71498800-71506000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:71498800-71510800	Weak transcription	NHLF	lung
42	chr14:71499400-71503600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:71499600-71540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:71500000-71503600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:71500400-71503600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:71500600-71503600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr14:71501000-71503600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:71501000-71503600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr14:71501200-71503600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:71501200-71503600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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