Variant report

Variant	rs2501845
Chromosome Location	chr1:212838858-212838859
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	CTCF	chr1:212838612-212838888	GM13977	blood:	n/a	n/a
2	CTCF	chr1:212838641-212838861	HepG2	liver:	n/a	n/a
3	CHD2	chr1:212838750-212838876	K562	blood:	n/a	n/a
4	ZNF384	chr1:212838698-212839036	K562	blood:	n/a	n/a
5	CTCF	chr1:212838582-212838942	GM12892	blood:	n/a	n/a
6	CTCF	chr1:212838605-212838880	GM13976	blood:	n/a	n/a
7	CTCF	chr1:212838604-212838908	Pancreas_OC	pancreas:	n/a	n/a
8	TBL1XR1	chr1:212838534-212838967	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:212838644-212839189	IMR90	lung:	n/a	n/a
10	MAX	chr1:212838481-212839293	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr1:212838346-212839242	A549	lung:	n/a	chr1:212838806-212838819
12	CTCF	chr1:212838633-212838930	A549	lung:	n/a	n/a
13	POLR2A	chr1:212838625-212839089	HCT-116	colon:	n/a	n/a
14	CTCF	chr1:212838498-212839278	A549	lung:	n/a	n/a
15	CTCF	chr1:212838593-212838915	A549	lung:	n/a	n/a
16	CTCF	chr1:212838526-212838968	K562	blood:	n/a	n/a
17	ZNF143	chr1:212838572-212839149	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:212838608-212838909	Medullo	brain:	n/a	n/a
19	SMARCB1	chr1:212838509-212839150	Hela-S3	cervix:	n/a	n/a
20	ZNF143	chr1:212838622-212839038	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr1:212838142-212839874	IMR90	lung:	n/a	n/a
22	EBF1	chr1:212838508-212839023	GM12878	blood:	n/a	chr1:212838644-212838657 chr1:212838644-212838655
23	CTCF	chr1:212838636-212838931	A549	lung:	n/a	n/a
24	MAX	chr1:212838513-212839354	A549	lung:	n/a	n/a
25	FOSL2	chr1:212838543-212839305	A549	lung:	n/a	n/a
26	BRCA1	chr1:212838652-212838868	H1-hESC	embryonic stem cell:	n/a	n/a
27	ELF1	chr1:212838519-212839189	GM12878	blood:	n/a	chr1:212838777-212838789
28	CTCF	chr1:212838512-212839013	K562	blood:	n/a	n/a
29	ZNF263	chr1:212838537-212839235	K562	blood:	n/a	chr1:212839027-212839036 chr1:212838860-212838881
30	MXI1	chr1:212838595-212838953	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:212838608-212838944	T-47D	breast:	n/a	n/a
32	REST	chr1:212838588-212838967	A549	lung:	n/a	n/a
33	TCF3	chr1:212838496-212839066	GM12878	blood:	n/a	chr1:212838976-212838989 chr1:212838978-212838992
34	MAX	chr1:212838615-212839105	GM12878	blood:	n/a	n/a
35	CTCF	chr1:212838644-212838989	MCF-7	breast:	n/a	n/a
36	SPI1	chr1:212838805-212839112	GM12891	blood:	n/a	chr1:212839011-212839018 chr1:212839009-212839022
37	CTCF	chr1:212838584-212838924	GM12891	blood:	n/a	n/a
38	RAD21	chr1:212838543-212839012	GM12878	blood:	n/a	chr1:212838806-212838819
39	CTCF	chr1:212838465-212839162	MCF-7	breast:	n/a	n/a
40	RAD21	chr1:212838556-212839028	GM12878	blood:	n/a	chr1:212838806-212838819
41	MYC	chr1:212838615-212838944	K562	blood:	n/a	n/a
42	BCLAF1	chr1:212838515-212838973	GM12878	blood:	n/a	chr1:212838662-212838675
43	POLR2A	chr1:212838817-212838987	A549	lung:	n/a	n/a
44	MAZ	chr1:212838544-212839207	K562	blood:	n/a	n/a
45	CEBPB	chr1:212838228-212838896	Hela-S3	cervix:	n/a	n/a
46	MXI1	chr1:212838595-212838969	HepG2	liver:	n/a	n/a
47	MAX	chr1:212838461-212839452	A549	lung:	n/a	n/a
48	MXI1	chr1:212838648-212838866	GM12878	blood:	n/a	n/a
49	JUND	chr1:212838610-212839124	A549	lung:	n/a	n/a
50	EBF1	chr1:212838504-212838929	GM12878	blood:	n/a	chr1:212838644-212838657 chr1:212838644-212838655

No.	Distal block	Cell Line	Cell type
1	chr1:212781960..212786594-chr1:212837699..212841392,5	K562	blood:
2	chr1:212838502..212841362-chr20:55203158..55204974,2	MCF-7	breast:
3	chr1:212785851..212789357-chr1:212837777..212840991,5	K562	blood:

Variant related genes	Relation type
ENSG00000237980	TF binding region
ENSG00000162772	Chromatin interaction
ENSG00000087510	Chromatin interaction
ENSG00000264590	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1284800	1.00[AMR][1000 genomes]
rs17019397	1.00[AMR][1000 genomes]
rs2456815	1.00[AMR][1000 genomes]
rs74138553	1.00[AMR][1000 genomes]
rs74138559	1.00[AMR][1000 genomes]
rs7530106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
7	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212838400-212839200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:212838400-212839200	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:212838400-212839400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:212838400-212839400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:212838400-212839400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:212838400-212839400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:212838400-212839400	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:212838600-212839000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212838600-212839000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:212838600-212839000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:212838600-212839000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:212838600-212839000	Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:212838600-212839000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:212838600-212839000	Active TSS	Liver	Liver
15	chr1:212838600-212839000	Active TSS	Duodenum Mucosa	Duodenum
16	chr1:212838600-212839000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr1:212838600-212839000	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr1:212838600-212839000	Flanking Active TSS	Pancreas	Pancrea
19	chr1:212838600-212839000	Enhancers	Psoas Muscle	Psoas
20	chr1:212838600-212839000	Enhancers	Dnd41	blood
21	chr1:212838600-212839000	Active TSS	HSMMtube	muscle
22	chr1:212838600-212839000	Active TSS	K562	blood
23	chr1:212838600-212839000	Active TSS	NHDF-Ad	bronchial
24	chr1:212838600-212839000	Active TSS	Osteobl	bone
25	chr1:212838600-212839200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:212838600-212839200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:212838600-212839200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:212838600-212839200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:212838600-212839200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:212838600-212839200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:212838600-212839200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:212838600-212839200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr1:212838600-212839200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:212838600-212839200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:212838600-212839200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:212838600-212839200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:212838600-212839200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:212838600-212839200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:212838600-212839200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:212838600-212839200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:212838600-212839200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:212838600-212839200	Active TSS	Brain Germinal Matrix	brain
43	chr1:212838600-212839200	Active TSS	Fetal Intestine Large	intestine
44	chr1:212838600-212839200	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr1:212838600-212839200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr1:212838600-212839200	Flanking Active TSS	Fetal Thymus	thymus
47	chr1:212838600-212839200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:212838600-212839200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:212838600-212839200	Enhancers	Spleen	Spleen
50	chr1:212838600-212839200	Active TSS	A549	lung

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