Variant report

Variant	rs17249649
Chromosome Location	chr14:68146542-68146543
allele	A/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	RCOR1	chr14:68146495-68147522	IMR90	lung:	n/a	n/a
2	JUND	chr14:68146397-68147292	GM12878	blood:	n/a	chr14:68147040-68147048 chr14:68147040-68147047 chr14:68147038-68147050 chr14:68146955-68146963 chr14:68147039-68147049 chr14:68147038-68147049 chr14:68147040-68147048
3	IRF1	chr14:68146487-68147185	K562	blood:	n/a	n/a
4	GATA1	chr14:68146499-68148041	PBDE	blood:	n/a	chr14:68146925-68146941 chr14:68146925-68146941
5	JUN	chr14:68146539-68147340	K562	blood:	n/a	chr14:68147040-68147048 chr14:68147040-68147047 chr14:68147038-68147050 chr14:68146955-68146963 chr14:68147039-68147049 chr14:68147040-68147048

No.	Distal block	Cell Line	Cell type
1	chr14:68144446..68146682-chr14:68160619..68162504,2	MCF-7	breast:
2	chr14:68143928..68146779-chr14:68151837..68154515,2	K562	blood:
3	chr14:68143928..68146779-chr14:68151837..68154556,3	K562	blood:
4	chr14:68085669..68088034-chr14:68144833..68146828,2	K562	blood:
5	chr14:68145632..68149013-chr14:68158288..68160093,3	K562	blood:
6	chr14:68144369..68146603-chr14:68232826..68234419,2	MCF-7	breast:
7	chr14:68139715..68143124-chr14:68143351..68148524,6	K562	blood:

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007283	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12147055	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12147616	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12879877	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12880440	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881994	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12882315	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12882423	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882561	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12882897	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12884644	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884764	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884807	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12886140	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12887092	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12888119	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889011	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889276	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12889527	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12890397	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12892204	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12892919	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893115	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12893900	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893907	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894707	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895014	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895217	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12896052	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12898042	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273160	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34970739	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759762	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147925	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8007557	0.94[EUR][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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking 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	32 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	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68147000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:68142200-68147800	Weak transcription	Small Intestine	intestine
4	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
8	chr14:68142400-68146600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:68142400-68146600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:68142400-68146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:68142400-68147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:68142400-68147800	Weak transcription	Stomach Mucosa	stomach
13	chr14:68142400-68148600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:68142400-68148800	Strong transcription	Fetal Stomach	stomach
15	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
16	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
20	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
21	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
25	chr14:68142600-68147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:68142600-68147200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:68142600-68147200	Weak transcription	Fetal Intestine Small	intestine
28	chr14:68142600-68150200	Weak transcription	Brain Anterior Caudate	brain
29	chr14:68142600-68150200	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:68142600-68151000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:68142600-68151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:68142600-68151800	Weak transcription	Pancreas	Pancrea
33	chr14:68142600-68153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:68142800-68147200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:68143400-68150400	Strong transcription	Fetal Brain Female	brain
39	chr14:68143400-68159600	Strong transcription	Dnd41	blood
40	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:68143800-68147200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:68143800-68147400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:68143800-68159400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:68143800-68159800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr14:68143800-68160000	Strong transcription	Fetal Thymus	thymus
47	chr14:68143800-68160200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:68144200-68146800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:68144200-68147000	Strong transcription	Hela-S3	cervix
50	chr14:68144200-68147200	Strong transcription	Primary B cells from peripheral blood	blood

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