Variant report

Variant	rs10144452
Chromosome Location	chr14:21903269-21903270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21903199..21908176-chr14:21922150..21927422,17	MCF-7	breast:
2	chr14:21902087..21907117-chr14:21919849..21925728,16	MCF-7	breast:
3	chr14:21874917..21880880-chr14:21901855..21906138,6	MCF-7	breast:
4	chr14:21883102..21885831-chr14:21901937..21903563,2	K562	blood:
5	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:
6	chr14:21898735..21900936-chr14:21901002..21903454,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10131647	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10872898	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]

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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21853200-21904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21853600-21903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:21854000-21904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:21879600-21904200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:21886400-21903800	Strong transcription	Primary B cells from cord blood	blood
6	chr14:21887000-21904200	Weak transcription	Right Atrium	heart
7	chr14:21888600-21903400	Weak transcription	Stomach Mucosa	stomach
8	chr14:21897400-21904600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:21899400-21904600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:21899600-21904200	Weak transcription	Psoas Muscle	Psoas
11	chr14:21899800-21903800	Weak transcription	HMEC	breast
12	chr14:21899800-21904000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:21899800-21904000	Weak transcription	HSMMtube	muscle
14	chr14:21899800-21904200	Weak transcription	K562	blood
15	chr14:21899800-21904400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:21899800-21904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:21899800-21904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:21899800-21904600	Weak transcription	Colonic Mucosa	Colon
19	chr14:21899800-21904600	Weak transcription	Left Ventricle	heart
20	chr14:21899800-21904600	Weak transcription	Ovary	ovary
21	chr14:21899800-21904600	Weak transcription	Right Ventricle	heart
22	chr14:21899800-21904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:21899800-21904800	Weak transcription	Aorta	Aorta
24	chr14:21900000-21903400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:21900000-21903400	Weak transcription	Liver	Liver
26	chr14:21900000-21903400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:21900000-21903600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:21900000-21903600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:21900000-21903600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:21900000-21903600	Weak transcription	Fetal Stomach	stomach
31	chr14:21900000-21903800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:21900000-21903800	Weak transcription	Adipose Nuclei	Adipose
33	chr14:21900000-21904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:21900000-21904000	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:21900000-21904000	Weak transcription	Fetal Brain Female	brain
36	chr14:21900000-21904000	Weak transcription	Fetal Intestine Small	intestine
37	chr14:21900000-21904000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:21900000-21904200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:21900000-21904200	Weak transcription	Fetal Intestine Large	intestine
40	chr14:21900000-21904200	Weak transcription	Thymus	Thymus
41	chr14:21900000-21904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:21900000-21904400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:21900000-21904600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:21900000-21904600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:21900000-21904600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:21900000-21904600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:21900000-21904600	Weak transcription	Esophagus	oesophagus
48	chr14:21900000-21904600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr14:21900000-21904600	Weak transcription	Placenta	Placenta
50	chr14:21900000-21904600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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