Variant report

Variant	rs28489429
Chromosome Location	chr14:65952104-65952105
allele	C/G
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	GATA3	chr14:65952027-65952108	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65948634..65950840-chr14:65951192..65953679,2	MCF-7	breast:
2	chr14:65951819..65953558-chr14:65954988..65957267,2	K562	blood:
3	chr14:65949225..65952104-chr14:65958180..65961178,2	MCF-7	breast:
4	chr14:65948068..65949593-chr14:65950471..65953165,2	MCF-7	breast:

Variant related genes	Relation type
FUT8	TF binding region
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10047886	0.89[AFR][1000 genomes]
rs10129221	1.00[AMR][1000 genomes]
rs10129828	1.00[AMR][1000 genomes]
rs10130270	0.85[AFR][1000 genomes]
rs10131095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131616	1.00[AMR][1000 genomes]
rs10132304	0.89[AFR][1000 genomes]
rs10135430	1.00[AFR][1000 genomes]
rs10135555	1.00[AFR][1000 genomes]
rs10136600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137961	1.00[AFR][1000 genomes]
rs10138521	1.00[AFR][1000 genomes]
rs10138881	1.00[AMR][1000 genomes]
rs10139190	1.00[AMR][1000 genomes]
rs10140494	1.00[AMR][1000 genomes]
rs10142126	1.00[AFR][1000 genomes]
rs10142520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143537	1.00[AFR][1000 genomes]
rs10143944	1.00[AMR][1000 genomes]
rs10144478	1.00[AMR][1000 genomes]
rs10146510	1.00[AMR][1000 genomes]
rs10148449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149224	1.00[AFR][1000 genomes]
rs10150033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150248	1.00[AFR][1000 genomes]
rs10150722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151906	1.00[AFR][1000 genomes]
rs10162357	1.00[AMR][1000 genomes]
rs10162579	1.00[AMR][1000 genomes]
rs17102622	1.00[AFR][1000 genomes]
rs17102765	1.00[AMR][1000 genomes]
rs17102767	1.00[AMR][1000 genomes]
rs17102769	1.00[AMR][1000 genomes]
rs1871746	0.89[AFR][1000 genomes]
rs2152376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370375	1.00[AMR][1000 genomes]
rs28375638	1.00[AMR][1000 genomes]
rs28438882	1.00[AFR][1000 genomes]
rs28459646	0.89[AFR][1000 genomes]
rs28462250	0.89[AFR][1000 genomes]
rs28482071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28546829	0.89[AFR][1000 genomes]
rs28550810	0.89[AFR][1000 genomes]
rs28583895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612256	1.00[AMR][1000 genomes]
rs28654875	0.89[AFR][1000 genomes]
rs28708772	1.00[AFR][1000 genomes]
rs28716649	1.00[AMR][1000 genomes]
rs28789146	1.00[AMR][1000 genomes]
rs28808288	1.00[AMR][1000 genomes]
rs28864090	1.00[AMR][1000 genomes]
rs28890806	1.00[AMR][1000 genomes]
rs57330939	1.00[AMR][1000 genomes]
rs73286159	1.00[AMR][1000 genomes]
rs9323458	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS 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	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
2	chr14:65936600-65957400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65937400-65961600	Weak transcription	Fetal Intestine Large	intestine
4	chr14:65938400-65963400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:65939000-65969400	Weak transcription	Dnd41	blood
6	chr14:65940600-65959400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:65945200-65980000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:65945600-65959000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:65946000-65954400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:65946400-65954800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:65949600-65954800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:65949600-65970200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:65949800-65952200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:65950000-65952200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:65950000-65952200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:65950000-65952200	Weak transcription	Brain Angular Gyrus	brain
17	chr14:65950000-65952200	Weak transcription	Small Intestine	intestine
18	chr14:65950000-65952400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:65950000-65953400	Weak transcription	Stomach Mucosa	stomach
20	chr14:65950000-65953600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:65950000-65953600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:65950000-65953600	Weak transcription	Fetal Intestine Small	intestine
23	chr14:65950000-65954600	Weak transcription	Left Ventricle	heart
24	chr14:65950000-65954800	Weak transcription	Brain Germinal Matrix	brain
25	chr14:65950000-65955000	Weak transcription	Ovary	ovary
26	chr14:65950000-65955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:65950000-65957200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:65950000-65965000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:65950000-65966000	Weak transcription	Psoas Muscle	Psoas
30	chr14:65950000-65969400	Weak transcription	NH-A	brain
31	chr14:65950000-65973400	Weak transcription	Gastric	stomach
32	chr14:65950200-65952200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:65950200-65952200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:65950200-65954600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:65950200-65955000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:65950400-65952400	Weak transcription	GM12878-XiMat	blood
37	chr14:65950800-65952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:65951000-65953200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:65951000-65954000	Enhancers	Brain Hippocampus Middle	brain
40	chr14:65951200-65952200	Weak transcription	Brain Substantia Nigra	brain
41	chr14:65951800-65952400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:65951800-65952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:65951800-65952800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:65951800-65955200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr14:65952000-65952400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr14:65952000-65952600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:65952000-65952600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:65952000-65952600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:65952000-65952800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:65952000-65952800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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