Variant report

Variant	rs12435531
Chromosome Location	chr14:68145731-68145732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr14:68145651-68146105	PBDE	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
4	chr14:68143928..68146779-chr14:68151837..68154556,3	K562	blood:
5	chr14:68085669..68088034-chr14:68144833..68146828,2	K562	blood:
6	chr14:68145632..68149013-chr14:68158288..68160093,3	K562	blood:
7	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
8	chr14:68144369..68146603-chr14:68232826..68234419,2	MCF-7	breast:
9	chr14:68139715..68143124-chr14:68143351..68148524,6	K562	blood:

No data

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000258466	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10483802	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12100925	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12431676	0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12432546	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12435352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12435927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12436474	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12437263	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12587111	0.80[ASN][1000 genomes]
rs12587408	0.85[ASN][1000 genomes]
rs12590038	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs15493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249444	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17249563	0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17836863	0.89[ASN][1000 genomes]
rs1804799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009590	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3759768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56246064	0.80[ASN][1000 genomes]
rs58668895	0.80[ASN][1000 genomes]
rs59421018	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60851053	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013234	0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs910315	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][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	chr14:68142400-68145800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:68142400-68146000	Strong transcription	NHLF	lung
10	chr14:68142400-68146600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:68142400-68146600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:68142400-68146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:68142400-68147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:68142400-68147800	Weak transcription	Stomach Mucosa	stomach
15	chr14:68142400-68148600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:68142400-68148800	Strong transcription	Fetal Stomach	stomach
17	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
18	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
22	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
23	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
27	chr14:68142600-68147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:68142600-68147200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:68142600-68147200	Weak transcription	Fetal Intestine Small	intestine
30	chr14:68142600-68150200	Weak transcription	Brain Anterior Caudate	brain
31	chr14:68142600-68150200	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:68142600-68151000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:68142600-68151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:68142600-68151800	Weak transcription	Pancreas	Pancrea
35	chr14:68142600-68153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:68142800-68147200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:68143200-68146200	Strong transcription	HUVEC	blood vessel
40	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:68143400-68146000	Strong transcription	HSMM	muscle
42	chr14:68143400-68150400	Strong transcription	Fetal Brain Female	brain
43	chr14:68143400-68159600	Strong transcription	Dnd41	blood
44	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:68143800-68146200	Strong transcription	NH-A	brain
47	chr14:68143800-68147200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:68143800-68147400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:68143800-68159400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:68143800-68159800	Strong transcription	H1 Cell Line	embryonic stem cell

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