Variant report

Variant	rs12883451
Chromosome Location	chr14:81985346-81985347
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81984391..81988174-chr14:81996632..82001032,4	K562	blood:
2	chr14:81983633..81985661-chr14:81986464..81988469,3	K562	blood:
3	chr14:81982643..81985778-chr14:81998621..82001086,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071537	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11846082	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846663	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846666	1.00[AMR][1000 genomes]
rs11848548	0.83[AMR][1000 genomes]
rs11851475	1.00[AMR][1000 genomes]
rs7144154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7154698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158459	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158559	1.00[AMR][1000 genomes]
rs8008992	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8020513	1.00[AMR][1000 genomes]
rs8022069	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:81960400-81985800	Weak transcription	Stomach Mucosa	stomach
3	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:81972600-81987000	Weak transcription	NH-A	brain
5	chr14:81972600-81989800	Weak transcription	HMEC	breast
6	chr14:81973800-81988800	Weak transcription	Spleen	Spleen
7	chr14:81973800-81999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:81973800-81999400	Weak transcription	Esophagus	oesophagus
9	chr14:81974800-81985400	Weak transcription	HUVEC	blood vessel
10	chr14:81974800-81985600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:81974800-81998200	Weak transcription	Fetal Brain Male	brain
12	chr14:81977600-81985600	Strong transcription	Primary T cells from cord blood	blood
13	chr14:81978200-81985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:81978600-81985600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:81979000-81985600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:81979000-81985600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:81979800-81985400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:81980200-81985400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:81980800-81991600	Strong transcription	Fetal Brain Female	brain
20	chr14:81981000-81985600	Weak transcription	Colonic Mucosa	Colon
21	chr14:81981200-81999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:81981600-81987400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:81982200-81986400	Enhancers	Psoas Muscle	Psoas
24	chr14:81982200-81986400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:81982400-81986200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:81982400-81986200	Strong transcription	Aorta	Aorta
27	chr14:81982400-81986400	Enhancers	Ovary	ovary
28	chr14:81982400-81988800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:81982400-81993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:81982600-81985600	Strong transcription	GM12878-XiMat	blood
31	chr14:81982600-81991600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:81982800-81985400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:81982800-81987600	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:81983000-81985400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:81983000-81985400	Enhancers	Fetal Kidney	kidney
36	chr14:81983000-81985600	Strong transcription	Dnd41	blood
37	chr14:81983000-81986400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:81983000-81993600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81983200-81986400	Enhancers	Right Atrium	heart
40	chr14:81983200-81987000	Enhancers	Adipose Nuclei	Adipose
41	chr14:81983200-81993600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:81983200-81999400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:81983400-81985800	Genic enhancers	Fetal Muscle Leg	muscle
44	chr14:81983400-81986600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:81983400-81987000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr14:81983600-81985800	Enhancers	Fetal Stomach	stomach
47	chr14:81983600-81986400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr14:81983600-81986400	Enhancers	HepG2	liver
49	chr14:81983600-81987000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:81983600-81987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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