Variant report

Variant	rs4381184
Chromosome Location	chr1:114489769-114489770
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr1:114489333-114490180	HEK293	kidney:	n/a	chr1:114489567-114489581 chr1:114489566-114489582 chr1:114489570-114489579 chr1:114489566-114489582
2	KAP1	chr1:114489235-114490664	HEK293	kidney:	n/a	n/a
3	ARID3A	chr1:114489426-114489854	K562	blood:	n/a	n/a
4	CTCF	chr1:114489660-114489810	GM12870	blood:	n/a	n/a
5	RCOR1	chr1:114489640-114489840	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114455126..114458709-chr1:114488876..114491433,3	K562	blood:
2	chr1:114488439..114491155-chr1:114492850..114497140,4	MCF-7	breast:
3	chr1:114469025..114474353-chr1:114487576..114493379,11	K562	blood:
4	chr1:114353138..114356692-chr1:114488797..114493614,4	MCF-7	breast:
5	chr1:114382638..114384845-chr1:114488214..114490819,2	MCF-7	breast:
6	chr1:114480724..114484665-chr1:114488445..114490479,3	K562	blood:
7	chr1:114489425..114491820-chr1:114493391..114496113,3	K562	blood:
8	chr1:114480724..114483569-chr1:114488715..114491848,4	K562	blood:
9	chr1:114488296..114490045-chr1:114492969..114497269,3	MCF-7	breast:
10	chr1:114485552..114487194-chr1:114487409..114490096,2	K562	blood:
11	chr1:114470845..114474120-chr1:114489434..114493268,5	K562	blood:

No data

Variant related genes	Relation type
HIPK1	TF binding region
ENSG00000235527	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1000528	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs1217441	0.88[EUR][1000 genomes]
rs2147079	0.91[EUR][1000 genomes]
rs2476598	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs3811018	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs6658209	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6702833	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522987	0.87[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7545038	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7551215	0.93[EUR][1000 genomes]
rs7554371	0.92[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv523196	chr1:114489689-114489973	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4381184	OLFML3	cis	Esophagus Muscularis	GTEx
rs4381184	NGF	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114473600-114499200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:114479000-114517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:114484000-114510400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:114484000-114510400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:114484000-114511200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:114484200-114497800	Weak transcription	NHDF-Ad	bronchial
7	chr1:114484200-114499400	Weak transcription	Brain Germinal Matrix	brain
8	chr1:114484200-114499600	Weak transcription	HMEC	breast
9	chr1:114484200-114504800	Weak transcription	Esophagus	oesophagus
10	chr1:114484200-114505600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:114484400-114510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:114484600-114496400	Weak transcription	NHEK	skin
13	chr1:114485000-114491800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:114485000-114496400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:114485000-114500600	Weak transcription	Lung	lung
16	chr1:114485000-114510400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:114486200-114490000	Weak transcription	Hela-S3	cervix
18	chr1:114486400-114497200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:114486400-114499800	Weak transcription	Fetal Brain Male	brain
20	chr1:114486600-114490600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:114486600-114496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:114486600-114496400	Weak transcription	Placenta	Placenta
23	chr1:114486600-114497400	Weak transcription	Fetal Kidney	kidney
24	chr1:114487400-114489800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:114487400-114490000	Enhancers	HepG2	liver
26	chr1:114487600-114495400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:114487800-114491400	Weak transcription	Fetal Stomach	stomach
28	chr1:114487800-114492200	Enhancers	Liver	Liver
29	chr1:114487800-114498800	Weak transcription	Left Ventricle	heart
30	chr1:114487800-114499200	Weak transcription	Ovary	ovary
31	chr1:114488000-114496600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:114488200-114490200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:114488200-114491000	Enhancers	Primary B cells from cord blood	blood
34	chr1:114488200-114491200	Enhancers	Fetal Intestine Small	intestine
35	chr1:114488200-114499000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:114488400-114491400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:114488400-114492600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:114488600-114490000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:114488600-114490000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:114488600-114490000	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:114488600-114490000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:114488600-114490200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:114488600-114490400	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:114488600-114490400	Enhancers	Stomach Mucosa	stomach
45	chr1:114488600-114490600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:114488600-114490600	Enhancers	Brain Anterior Caudate	brain
47	chr1:114488600-114490600	Enhancers	Brain Substantia Nigra	brain
48	chr1:114488600-114490600	Enhancers	Fetal Heart	heart
49	chr1:114488600-114490600	Enhancers	Small Intestine	intestine
50	chr1:114488600-114491000	Enhancers	HUES48 Cell Line	embryonic stem cell

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