Variant report

Variant	rs514629
Chromosome Location	chr2:169665121-169665122
allele	C/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	TBL1XR1	chr2:169665112-169665195	K562	blood:	n/a	n/a
2	FOXA1	chr2:169664797-169665133	T-47D	breast:	n/a	n/a
3	SP1	chr2:169664785-169665169	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA1	chr2:169664910-169665132	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
NOSTRIN	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16855794	1.00[CHD][hapmap]
rs17200279	0.95[CEU][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs7583629	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes]
rs829957	0.90[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.81[TSI][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs829958	0.90[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs514629	CXCL14	trans	lymphoblastoid	seeQTL
rs514629	GALNT3	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169656000-169666800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:169659000-169665800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:169659000-169668200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:169659200-169666000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:169659200-169666600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:169659800-169666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:169659800-169672400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:169660000-169666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:169660000-169676000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
11	chr2:169661000-169666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:169661000-169668200	Weak transcription	Ovary	ovary
13	chr2:169661200-169668600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:169661400-169676800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:169661800-169665600	Weak transcription	Fetal Intestine Large	intestine
16	chr2:169662000-169670000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:169662200-169668400	Genic enhancers	K562	blood
18	chr2:169662200-169668800	Weak transcription	Stomach Mucosa	stomach
19	chr2:169662600-169672400	Weak transcription	Gastric	stomach
20	chr2:169662600-169673000	Weak transcription	Left Ventricle	heart
21	chr2:169662600-169675600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:169662800-169667000	Weak transcription	Adipose Nuclei	Adipose
23	chr2:169662800-169669200	Weak transcription	Pancreas	Pancrea
24	chr2:169663200-169667800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:169664400-169667000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:169664400-169672600	Weak transcription	Lung	lung
27	chr2:169664800-169666600	Weak transcription	Right Atrium	heart
28	chr2:169665000-169667000	Weak transcription	Fetal Intestine Small	intestine

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