Variant report

Variant	rs1317189
Chromosome Location	chr1:221056216-221056217
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	CEBPB	chr1:221055975-221056288	Hela-S3	cervix:	n/a	chr1:221056137-221056148 chr1:221056136-221056147 chr1:221056136-221056149
2	POLR2A	chr1:221055626-221056898	HL-60	blood:	n/a	n/a
3	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA2	chr1:221055746-221056278	A549	lung:	n/a	n/a
5	CEBPB	chr1:221056074-221056277	K562	blood:	n/a	chr1:221056137-221056148 chr1:221056136-221056147 chr1:221056136-221056149
6	POLR2A	chr1:221054124-221056451	HUVEC	blood vessel:	n/a	n/a
7	MAZ	chr1:221051935-221057120	IMR90	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
8	SPI1	chr1:221055915-221056398	HL-60	blood:	n/a	chr1:221056160-221056169 chr1:221056154-221056167 chr1:221056100-221056113
9	CEBPB	chr1:221055900-221056283	MCF-7	breast:	n/a	chr1:221056137-221056148 chr1:221056136-221056147 chr1:221056136-221056149
10	POLR2A	chr1:221055868-221056382	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr1:221051833-221056348	IMR90	lung:	n/a	chr1:221051897-221051906
12	CEBPB	chr1:221055564-221056319	H1-hESC	embryonic stem cell:	n/a	chr1:221056137-221056148 chr1:221056136-221056147 chr1:221056136-221056149
13	E2F4	chr1:221055935-221056235	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr1:221055999-221056291	A549	lung:	n/a	chr1:221056137-221056148 chr1:221056136-221056147 chr1:221056136-221056149
15	SPI1	chr1:221055858-221056505	HL-60	blood:	n/a	chr1:221056160-221056169 chr1:221056154-221056167 chr1:221056100-221056113
16	POLR2A	chr1:221054077-221056927	HL-60	blood:	n/a	n/a
17	CEBPB	chr1:221055969-221056297	HepG2	liver:	n/a	chr1:221056137-221056148 chr1:221056136-221056147 chr1:221056136-221056149
18	CEBPB	chr1:221055698-221056320	IMR90	lung:	n/a	chr1:221056137-221056148 chr1:221056136-221056147 chr1:221056136-221056149

Variant related genes	Relation type
HLA-AS1	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2247213	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2738752	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2738755	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2784250	0.87[AFR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1317189	RP11-295M18.2	cis	lung	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221052000-221058000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:221052400-221056600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
3	chr1:221052600-221056400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr1:221053600-221057400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:221054200-221056400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:221054800-221057400	Weak transcription	Gastric	stomach
7	chr1:221054800-221057600	Weak transcription	HSMMtube	muscle
8	chr1:221054800-221058400	Weak transcription	K562	blood
9	chr1:221054800-221061000	Weak transcription	HSMM	muscle
10	chr1:221055000-221056400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:221055000-221056800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr1:221055000-221056800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:221055000-221057000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr1:221055000-221058800	Weak transcription	Ovary	ovary
15	chr1:221055200-221056600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
16	chr1:221055400-221056400	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr1:221055600-221056400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr1:221055800-221056400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:221055800-221056400	Active TSS	Colon Smooth Muscle	Colon
20	chr1:221055800-221056400	Active TSS	Right Atrium	heart
21	chr1:221055800-221056600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:221055800-221056600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:221055800-221056600	Active TSS	Placenta	Placenta
24	chr1:221055800-221056800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:221055800-221057600	Weak transcription	Pancreas	Pancrea
26	chr1:221055800-221057800	Strong transcription	Spleen	Spleen
27	chr1:221055800-221058000	Weak transcription	Psoas Muscle	Psoas
28	chr1:221055800-221060400	Weak transcription	Hela-S3	cervix
29	chr1:221056000-221056400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:221056000-221056400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr1:221056000-221056400	Flanking Active TSS	NHLF	lung
32	chr1:221056000-221056600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:221056000-221056600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:221056000-221056800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:221056000-221057200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:221056000-221057200	Weak transcription	Esophagus	oesophagus
37	chr1:221056000-221057200	Strong transcription	Left Ventricle	heart
38	chr1:221056000-221057200	Active TSS	Rectal Smooth Muscle	rectum
39	chr1:221056000-221057200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:221056000-221057200	Weak transcription	HUVEC	blood vessel
41	chr1:221056000-221057400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:221056000-221057400	Strong transcription	Right Ventricle	heart
43	chr1:221056000-221057600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:221056000-221057600	Weak transcription	Aorta	Aorta
45	chr1:221056000-221057800	Genic enhancers	Liver	Liver
46	chr1:221056000-221058000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:221056000-221058000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:221056000-221061000	Weak transcription	NHDF-Ad	bronchial
49	chr1:221056200-221056400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr1:221056200-221056400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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