Variant report

Variant	rs2104072
Chromosome Location	chr14:104377099-104377100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104321815..104323849-chr14:104376770..104378345,2	MCF-7	breast:
2	chr14:104274481..104275414-chr14:104376428..104377300,2	K562	blood:
3	chr14:104377058..104380322-chr14:104382660..104385611,3	MCF-7	breast:
4	chr14:104274497..104274998-chr14:104376418..104377156,2	MCF-7	breast:
5	chr14:104375830..104378019-chr14:104390962..104392479,2	MCF-7	breast:
6	chr14:104311401..104315706-chr14:104374803..104378289,8	MCF-7	breast:
7	chr14:104274231..104275062-chr14:104376739..104377463,3	MCF-7	breast:
8	chr14:104375013..104378021-chr14:104379285..104384013,4	K562	blood:
9	chr14:104370970..104374376-chr14:104374591..104379019,6	K562	blood:
10	chr14:104348645..104351214-chr14:104375295..104378157,2	MCF-7	breast:
11	chr14:104376434..104377243-chr20:46012547..46013067,2	MCF-7	breast:
12	chr14:104367142..104368042-chr14:104376703..104377288,2	MCF-7	breast:
13	chr14:104272328..104275733-chr14:104376448..104378285,3	MCF-7	breast:
14	chr14:104181823..104183759-chr14:104376074..104377999,2	MCF-7	breast:
15	chr14:104312523..104316268-chr14:104373150..104378341,6	MCF-7	breast:
16	chr14:104376364..104377292-chr14:104387617..104388288,2	MCF-7	breast:
17	chr14:104375126..104376640-chr14:104376755..104379317,2	MCF-7	breast:
18	chr14:104367158..104368083-chr14:104376457..104377219,2	MCF-7	breast:
19	chr14:104159760..104161873-chr14:104375990..104378240,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000156411	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000269910	Chromatin interaction
ENSG00000269940	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10131550	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10141347	0.81[EUR][1000 genomes]
rs10141435	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10147939	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1053419	0.87[AFR][1000 genomes]
rs11850704	0.90[AFR][1000 genomes]
rs11851006	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28592682	0.81[EUR][1000 genomes]
rs74086744	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	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
13	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

No data

Chromatin state (count:124 , 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	chr14:104365000-104377400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:104366600-104377400	Weak transcription	Esophagus	oesophagus
4	chr14:104367800-104378000	Weak transcription	K562	blood
5	chr14:104370000-104378600	Weak transcription	Aorta	Aorta
6	chr14:104372400-104377600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:104374400-104378000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:104374600-104377200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:104374800-104377200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:104375000-104385800	Weak transcription	Small Intestine	intestine
11	chr14:104375200-104377200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr14:104375800-104377200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:104375800-104377200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:104375800-104377200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:104375800-104377600	Weak transcription	Primary B cells from cord blood	blood
16	chr14:104375800-104377600	Weak transcription	Psoas Muscle	Psoas
17	chr14:104375800-104377600	Genic enhancers	Spleen	Spleen
18	chr14:104375800-104384200	Strong transcription	Dnd41	blood
19	chr14:104376000-104377200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:104376000-104377200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:104376000-104377200	Enhancers	Left Ventricle	heart
22	chr14:104376000-104377200	Enhancers	HMEC	breast
23	chr14:104376000-104384800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:104376200-104377200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:104376200-104377200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:104376200-104377200	Enhancers	Fetal Heart	heart
27	chr14:104376200-104377200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:104376400-104377200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:104376400-104377200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:104376400-104377200	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:104376400-104377200	Enhancers	Fetal Intestine Large	intestine
32	chr14:104376400-104377200	Enhancers	Fetal Muscle Trunk	muscle
33	chr14:104376400-104377200	Enhancers	Placenta	Placenta
34	chr14:104376400-104377200	Enhancers	Fetal Stomach	stomach
35	chr14:104376600-104377200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:104376600-104377200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:104376600-104377200	Enhancers	HSMM	muscle
38	chr14:104376600-104377800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:104376600-104377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:104376600-104378200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:104376600-104378400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:104376600-104378800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:104376600-104384200	Weak transcription	Right Atrium	heart
44	chr14:104376800-104377200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr14:104376800-104377200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:104376800-104377200	Enhancers	Primary T cells from cord blood	blood
47	chr14:104376800-104377200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr14:104376800-104377200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr14:104376800-104377200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:104376800-104377200	Enhancers	Liver	Liver

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