Variant report

Variant	rs12590319
Chromosome Location	chr14:68889011-68889012
allele	A/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	POLR2A	chr14:68888787-68889047	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:68888799-68889069	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:68888709-68889182	GM12878	blood:	n/a	n/a
4	TAF1	chr14:68888753-68889061	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PPIAP6	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10747299	0.81[EUR][1000 genomes]
rs11158742	0.81[ASN][1000 genomes]
rs12435006	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12588330	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4902580	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7152152	0.83[ASN][1000 genomes]
rs7154175	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv977483	chr14:68887798-68889629	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68877200-68890600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:68881000-68890600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:68882200-68890000	Weak transcription	Small Intestine	intestine
4	chr14:68882400-68893400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:68884000-68890200	Weak transcription	Primary B cells from cord blood	blood
6	chr14:68884200-68890800	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:68885200-68893600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:68885800-68889600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:68886000-68890600	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:68886200-68894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:68886600-68890000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:68886600-68903200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:68887800-68890600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:68887800-68890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:68888000-68889600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:68888000-68891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:68888000-68893400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:68888000-68901000	Weak transcription	Primary T cells from cord blood	blood
19	chr14:68888200-68891800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:68888200-68892600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:68888200-68893200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:68888800-68893600	Weak transcription	Lung	lung
23	chr14:68889000-68893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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