Variant report

Variant	rs1951438
Chromosome Location	chr14:55243209-55243210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
2	chr14:55165172..55166769-chr14:55243179..55246172,2	K562	blood:
3	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
4	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10151058	1.00[ASN][1000 genomes]
rs11845908	1.00[ASN][1000 genomes]
rs11845954	1.00[ASN][1000 genomes]
rs11847254	1.00[ASN][1000 genomes]
rs1354	1.00[ASN][1000 genomes]
rs17671485	1.00[ASN][1000 genomes]
rs17738966	1.00[ASN][1000 genomes]
rs17739146	1.00[ASN][1000 genomes]
rs1951437	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28678578	1.00[ASN][1000 genomes]
rs4340245	1.00[ASN][1000 genomes]
rs55934565	1.00[ASN][1000 genomes]
rs7147147	1.00[ASN][1000 genomes]
rs7148831	1.00[ASN][1000 genomes]
rs73278735	1.00[ASN][1000 genomes]
rs74049670	0.85[EUR][1000 genomes]
rs8016944	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1951438	PNLDC1	trans	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
2	chr14:55236600-55245400	Genic enhancers	Fetal Muscle Leg	muscle
3	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
5	chr14:55239000-55244000	Enhancers	HMEC	breast
6	chr14:55240000-55244000	Genic enhancers	NHEK	skin
7	chr14:55240000-55244200	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr14:55240000-55250400	Strong transcription	HepG2	liver
9	chr14:55240200-55244400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:55240200-55244400	Genic enhancers	NHLF	lung
11	chr14:55240600-55243800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:55240600-55251200	Weak transcription	Gastric	stomach
13	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:55240800-55244200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:55240800-55245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
19	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus
20	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:55241000-55245600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:55241000-55249200	Weak transcription	Right Atrium	heart
29	chr14:55241000-55256400	Weak transcription	Ovary	ovary
30	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:55241200-55244000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:55241200-55257600	Weak transcription	K562	blood
36	chr14:55241200-55272200	Weak transcription	A549	lung
37	chr14:55241400-55243800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:55241600-55243600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:55241600-55244000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:55241600-55244400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:55241600-55248600	Strong transcription	Fetal Intestine Large	intestine
42	chr14:55241600-55248600	Strong transcription	Fetal Intestine Small	intestine
43	chr14:55241800-55243600	Genic enhancers	Colon Smooth Muscle	Colon
44	chr14:55241800-55244000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:55241800-55244000	Genic enhancers	NHDF-Ad	bronchial
46	chr14:55241800-55245800	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr14:55241800-55246000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
48	chr14:55241800-55249000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:55242000-55243400	Enhancers	Brain Substantia Nigra	brain

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