Variant report

Variant	rs28647590
Chromosome Location	chr14:67958310-67958311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:67958207-67959403	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67955748..67958630-chr14:67960758..67962478,3	MCF-7	breast:
2	chr14:67945105..67947990-chr14:67956817..67958766,2	MCF-7	breast:
3	chr14:67953372..67955912-chr14:67957756..67960248,2	K562	blood:

Variant related genes	Relation type
TMEM229B	TF binding region
ENSG00000198133	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60946296	1.00[EUR][1000 genomes]
rs73284818	1.00[EUR][1000 genomes]
rs73288662	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	3 gene(s)	inside rSNPs	diseases
8	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67947200-67958400	Weak transcription	Brain Germinal Matrix	brain
3	chr14:67952400-67958600	Weak transcription	Fetal Brain Female	brain
4	chr14:67953800-67958800	Weak transcription	Fetal Intestine Large	intestine
5	chr14:67954800-67959000	Weak transcription	Fetal Intestine Small	intestine
6	chr14:67955400-67958600	Weak transcription	Gastric	stomach
7	chr14:67955600-67958800	Weak transcription	Left Ventricle	heart
8	chr14:67955800-67958800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:67955800-67959600	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:67955800-67959600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:67956000-67959600	Enhancers	Primary B cells from cord blood	blood
12	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:67956200-67958400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:67956200-67958800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:67956200-67959200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:67956200-67959400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:67956200-67960200	Weak transcription	Primary T cells from cord blood	blood
18	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:67956400-67959200	Weak transcription	Dnd41	blood
20	chr14:67956400-67960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:67956800-67961000	ZNF genes & repeats	GM12878-XiMat	blood
22	chr14:67957000-67959200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:67957200-67959000	Weak transcription	Spleen	Spleen
24	chr14:67957200-67960000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:67957400-67959400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr14:67957600-67959400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:67957600-67959400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr14:67957600-67959400	Enhancers	Fetal Stomach	stomach
29	chr14:67957800-67959000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:67957800-67959000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr14:67957800-67959200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr14:67957800-67959200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:67957800-67959400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:67958000-67958800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr14:67958000-67959000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:67958000-67959000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:67958000-67959400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:67958200-67958400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:67958200-67959000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:67958200-67959000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:67958200-67959400	Enhancers	Fetal Brain Male	brain
42	chr14:67958200-67959400	Enhancers	Pancreas	Pancrea

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