Variant report

Variant	rs748963
Chromosome Location	chr14:45600467-45600468
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
2	chr14:45600233..45601882-chr14:45601971..45603822,3	K562	blood:

Variant related genes	Relation type
ENSG00000249163	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10146650	0.80[LWK][hapmap];1.00[MEX][hapmap]
rs17115814	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs17115898	1.00[MEX][hapmap]
rs28406098	0.86[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap]
rs73340638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340651	1.00[AMR][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	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:45573800-45602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:45577200-45602800	Weak transcription	Aorta	Aorta
8	chr14:45583000-45602800	Weak transcription	Stomach Mucosa	stomach
9	chr14:45583200-45602000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:45583800-45602800	Weak transcription	Fetal Brain Male	brain
11	chr14:45585600-45602000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:45586400-45602400	Weak transcription	Pancreas	Pancrea
13	chr14:45586600-45602600	Weak transcription	Colonic Mucosa	Colon
14	chr14:45586800-45602800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:45589200-45603000	Weak transcription	Gastric	stomach
16	chr14:45589200-45603200	Weak transcription	Spleen	Spleen
17	chr14:45589600-45602600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:45590200-45602000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:45590600-45601200	Weak transcription	Hela-S3	cervix
20	chr14:45590600-45602600	Weak transcription	Brain Substantia Nigra	brain
21	chr14:45590600-45602800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:45590800-45602200	Weak transcription	NHEK	skin
23	chr14:45590800-45602600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:45590800-45602600	Weak transcription	Right Ventricle	heart
25	chr14:45591000-45601000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:45591000-45602200	Weak transcription	HMEC	breast
27	chr14:45592200-45602600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:45592800-45601800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:45592800-45603000	Weak transcription	Esophagus	oesophagus
30	chr14:45593400-45602200	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:45593400-45602600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:45593400-45602600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:45593400-45602600	Weak transcription	Fetal Brain Female	brain
34	chr14:45593400-45603000	Weak transcription	Small Intestine	intestine
35	chr14:45593600-45602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:45593600-45602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:45593600-45603000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:45594400-45603000	Weak transcription	Lung	lung
39	chr14:45595200-45602600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:45595600-45602800	Weak transcription	Ovary	ovary
41	chr14:45596000-45601200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:45596000-45602400	Weak transcription	Osteobl	bone
43	chr14:45596200-45603000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:45596400-45602800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:45597400-45602400	Weak transcription	Thymus	Thymus
46	chr14:45597400-45602600	Weak transcription	NHLF	lung
47	chr14:45597600-45601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:45597600-45602000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:45597600-45602200	Weak transcription	Fetal Stomach	stomach
50	chr14:45597600-45602600	Weak transcription	Psoas Muscle	Psoas

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