Variant report

Variant	rs2251786
Chromosome Location	chr1:47656998-47656999
allele	A/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	POLR2A	chr1:47656889-47657786	HepG2	liver:	n/a	n/a
2	SP1	chr1:47656822-47657703	A549	lung:	n/a	n/a
3	MAX	chr1:47656758-47657848	A549	lung:	n/a	n/a
4	ZNF263	chr1:47656607-47657485	HEK293-T-REx	kidney:	n/a	n/a
5	SP1	chr1:47656891-47657712	A549	lung:	n/a	n/a
6	MAX	chr1:47656978-47657779	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47656717..47659062-chr1:47661249..47663518,2	K562	blood:
2	chr1:47655819..47657436-chr1:47799137..47801227,2	K562	blood:
3	chr1:47656858..47659851-chr1:47734619..47737417,2	K562	blood:

Variant related genes	Relation type
PDZK1IP1	TF binding region
ENSG00000162368	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2248907	0.92[EUR][1000 genomes]
rs2798354	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2821075	0.90[EUR][1000 genomes]
rs4926513	0.94[ASN][1000 genomes]
rs4926718	0.94[ASN][1000 genomes]
rs941412	0.97[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	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2251786	PDZK1IP1	cis	Artery Aorta	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47652600-47659000	Enhancers	Fetal Intestine Small	intestine
2	chr1:47652800-47658400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:47653200-47658400	Enhancers	K562	blood
4	chr1:47654600-47659200	Enhancers	Fetal Intestine Large	intestine
5	chr1:47655000-47659000	Enhancers	Lung	lung
6	chr1:47655000-47659200	Enhancers	Fetal Muscle Leg	muscle
7	chr1:47655200-47658400	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:47655200-47659000	Enhancers	Adipose Nuclei	Adipose
9	chr1:47655400-47657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:47655400-47658200	Enhancers	HMEC	breast
11	chr1:47655400-47658800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:47655400-47659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:47655600-47657000	Enhancers	Right Ventricle	heart
14	chr1:47655600-47657400	Enhancers	Spleen	Spleen
15	chr1:47655600-47657800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:47655600-47657800	Weak transcription	Small Intestine	intestine
17	chr1:47655600-47658600	Enhancers	NHEK	skin
18	chr1:47655600-47659000	Enhancers	Placenta	Placenta
19	chr1:47655600-47659000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:47655600-47659000	Enhancers	HSMMtube	muscle
21	chr1:47655600-47659200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:47655800-47657000	Enhancers	HUVEC	blood vessel
23	chr1:47655800-47657600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr1:47655800-47657800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:47655800-47658000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:47655800-47658000	Enhancers	NHDF-Ad	bronchial
27	chr1:47655800-47658400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:47655800-47658400	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:47655800-47658400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:47655800-47658800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:47655800-47659000	Enhancers	Esophagus	oesophagus
32	chr1:47656000-47657400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:47656000-47658000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:47656000-47658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:47656000-47658800	Enhancers	Gastric	stomach
36	chr1:47656000-47659000	Enhancers	Stomach Mucosa	stomach
37	chr1:47656200-47657400	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:47656200-47657800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:47656200-47660400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:47656400-47658000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:47656400-47658200	Weak transcription	Fetal Lung	lung
42	chr1:47656400-47658400	Weak transcription	Right Atrium	heart
43	chr1:47656400-47658600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:47656400-47659000	Enhancers	Pancreas	Pancrea
45	chr1:47656600-47657000	Weak transcription	Ovary	ovary
46	chr1:47656600-47657600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:47656600-47657600	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:47656600-47657600	Enhancers	Hela-S3	cervix
49	chr1:47656600-47658000	Enhancers	Colonic Mucosa	Colon
50	chr1:47656600-47658200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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