Variant report

Variant	rs7410
Chromosome Location	chr14:68144423-68144424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68143928..68146779-chr14:68151837..68154515,2	K562	blood:
2	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
3	chr14:68143928..68146779-chr14:68151837..68154556,3	K562	blood:
4	chr14:68143497..68145467-chr14:68232189..68234111,2	MCF-7	breast:
5	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
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
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000258466	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11626809	1.00[ASW][hapmap]
rs12147616	0.88[MKK][hapmap]
rs12878157	1.00[ASW][hapmap];1.00[ASN][1000 genomes]
rs12880908	1.00[ASN][1000 genomes]
rs12881114	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882315	0.88[MKK][hapmap]
rs12889527	0.93[MKK][hapmap]
rs12890397	0.85[CEU][hapmap]
rs17782224	1.00[ASN][1000 genomes]
rs17782871	1.00[ASN][1000 genomes]
rs1950764	1.00[ASW][hapmap]
rs2273160	0.88[MKK][hapmap]
rs34157082	1.00[ASN][1000 genomes]
rs34186579	1.00[ASN][1000 genomes]
rs34612763	1.00[ASN][1000 genomes]
rs34666247	1.00[ASN][1000 genomes]
rs35103502	1.00[ASN][1000 genomes]
rs3759762	0.85[CEU][hapmap]
rs3809389	1.00[ASW][hapmap]
rs56074521	1.00[ASN][1000 genomes]
rs61682079	1.00[ASN][1000 genomes]
rs749269	1.00[ASW][hapmap]

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	chr14:68142400-68144800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:68142400-68144800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:68142400-68145800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:68142400-68146000	Strong transcription	NHLF	lung
12	chr14:68142400-68146600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:68142400-68146600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:68142400-68146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:68142400-68147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:68142400-68147800	Weak transcription	Stomach Mucosa	stomach
17	chr14:68142400-68148600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:68142400-68148800	Strong transcription	Fetal Stomach	stomach
19	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
20	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
24	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
25	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
29	chr14:68142600-68144600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:68142600-68147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:68142600-68147200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:68142600-68147200	Weak transcription	Fetal Intestine Small	intestine
33	chr14:68142600-68150200	Weak transcription	Brain Anterior Caudate	brain
34	chr14:68142600-68150200	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:68142600-68151000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:68142600-68151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:68142600-68151800	Weak transcription	Pancreas	Pancrea
38	chr14:68142600-68153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:68142800-68147200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:68143200-68146200	Strong transcription	HUVEC	blood vessel
43	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:68143400-68146000	Strong transcription	HSMM	muscle
45	chr14:68143400-68150400	Strong transcription	Fetal Brain Female	brain
46	chr14:68143400-68159600	Strong transcription	Dnd41	blood
47	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:68143600-68145600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:68143800-68144800	Genic enhancers	A549	lung

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