Variant report

Variant	rs8003047
Chromosome Location	chr14:65218457-65218458
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65217187..65219069-chr14:65219788..65222108,2	MCF-7	breast:
2	chr14:65207536..65209508-chr14:65217159..65219849,2	K562	blood:
3	chr14:65212044..65214816-chr14:65217541..65219717,2	MCF-7	breast:
4	chr14:65205002..65209276-chr14:65218300..65221160,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12884320	1.00[JPT][hapmap]
rs12889768	1.00[JPT][hapmap]
rs12892540	1.00[JPT][hapmap]
rs229598	1.00[JPT][hapmap]
rs229648	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3363315	chr14:65216799-65218847	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65201000-65221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:65204600-65219800	Strong transcription	Fetal Intestine Small	intestine
3	chr14:65208600-65219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:65208600-65222400	Weak transcription	Stomach Mucosa	stomach
5	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
6	chr14:65211200-65219000	Weak transcription	Small Intestine	intestine
7	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:65212000-65224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:65212800-65218800	Weak transcription	Brain Germinal Matrix	brain
10	chr14:65212800-65224200	Weak transcription	Aorta	Aorta
11	chr14:65213600-65219600	Strong transcription	HMEC	breast
12	chr14:65213800-65219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:65213800-65222200	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:65214000-65220200	Weak transcription	Adipose Nuclei	Adipose
15	chr14:65214000-65221600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:65214000-65223600	Weak transcription	Right Atrium	heart
17	chr14:65214200-65221200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:65214200-65224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:65214400-65218600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:65214400-65218800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:65214400-65224200	Weak transcription	Fetal Lung	lung
22	chr14:65214400-65224400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:65214400-65224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:65214400-65224600	Weak transcription	Fetal Kidney	kidney
25	chr14:65214600-65218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:65214600-65224600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:65214800-65219000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:65214800-65222000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:65214800-65224600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:65215000-65219200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:65215000-65221200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:65215000-65222200	Weak transcription	NH-A	brain
33	chr14:65215000-65224800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:65215200-65224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:65215400-65219000	Weak transcription	Liver	Liver
37	chr14:65215400-65220800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:65215400-65222200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:65215400-65223600	Weak transcription	Gastric	stomach
40	chr14:65215400-65224600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:65215400-65224800	Weak transcription	Brain Substantia Nigra	brain
42	chr14:65215600-65221200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:65215600-65224600	Weak transcription	Brain Angular Gyrus	brain
44	chr14:65216200-65218800	Weak transcription	Fetal Brain Female	brain
45	chr14:65216200-65221200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:65216200-65224400	Weak transcription	Brain Anterior Caudate	brain
47	chr14:65216600-65220000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:65216800-65219000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:65216800-65219200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:65216800-65220000	Weak transcription	Primary T cells fromperipheralblood	blood

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