Variant report

Variant	rs41264285
Chromosome Location	chr1:155033918-155033919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr1:155033877-155034419	GM12878	blood:	n/a	n/a
2	CTCF	chr1:155033900-155034933	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:155033481-155034276	A549	lung:	n/a	n/a
4	HCFC1	chr1:155033717-155034485	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr1:155033750-155034472	ECC-1	luminal epithelium:	n/a	n/a
6	RAD21	chr1:155033874-155034411	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr1:155033870-155034426	GM12878	blood:	n/a	n/a
8	RAD21	chr1:155033426-155034708	SK-N-SH	brain:	n/a	chr1:155033534-155033548 chr1:155033510-155033524 chr1:155033458-155033468 chr1:155033507-155033520
9	RAD21	chr1:155033906-155034352	SK-N-SH_RA	brain:	n/a	n/a
10	MTA3	chr1:155033881-155034326	GM12878	blood:	n/a	n/a
11	YY1	chr1:155033881-155034566	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:155033868-155034321	HUVEC	blood vessel:	n/a	n/a
13	REST	chr1:155033889-155034229	A549	lung:	n/a	n/a
14	RAD21	chr1:155033912-155034410	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:155033906-155034353	T-47D	breast:	n/a	n/a
16	MTA3	chr1:155033811-155034525	GM12878	blood:	n/a	n/a
17	RAD21	chr1:155033746-155034444	MCF-7	breast:	n/a	n/a
18	RAD21	chr1:155033555-155034601	HCT-116	colon:	n/a	n/a
19	ZNF263	chr1:155033312-155034383	HEK293-T-REx	kidney:	n/a	n/a
20	CTCF	chr1:155033884-155034295	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOXM1	chr1:155033881-155034398	GM12878	blood:	n/a	n/a
22	CTCF	chr1:155033907-155033947	Spleen_OC	spleen:	n/a	n/a
23	RAD21	chr1:155033743-155034581	HCT-116	colon:	n/a	n/a
24	CTCF	chr1:155033909-155034361	A549	lung:	n/a	n/a
25	CTCF	chr1:155033866-155034319	A549	lung:	n/a	n/a
26	RAD21	chr1:155033811-155034448	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:155033838-155034501	K562	blood:	n/a	n/a
28	POLR2A	chr1:155033738-155034285	K562	blood:	n/a	n/a
29	POLR2A	chr1:155033275-155034855	HL-60	blood:	n/a	n/a
30	JUN	chr1:155033762-155034876	K562	blood:	n/a	n/a
31	RAD21	chr1:155033905-155034385	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr1:155033876-155034473	GM12878	blood:	n/a	n/a
33	TEAD4	chr1:155033873-155034337	K562	blood:	n/a	n/a
34	ZEB1	chr1:155033626-155033964	GM12878	blood:	n/a	chr1:155033748-155033757
35	BCL3	chr1:155033839-155034518	A549	lung:	n/a	n/a
36	POLR2A	chr1:155033895-155034472	GM12892	blood:	n/a	n/a
37	CTCF	chr1:155033917-155034344	K562	blood:	n/a	n/a
38	CTCF	chr1:155033668-155036363	A549	lung:	n/a	chr1:155035307-155035325
39	FOSL2	chr1:155033903-155034356	A549	lung:	n/a	n/a
40	SMC3	chr1:155033911-155034508	K562	blood:	n/a	n/a
41	RAD21	chr1:155033818-155034415	A549	lung:	n/a	n/a
42	POU2F2	chr1:155033897-155034536	GM12878	blood:	n/a	n/a
43	CTCF	chr1:155033703-155034602	HCT-116	colon:	n/a	n/a
44	SMC3	chr1:155033565-155034879	SK-N-SH	brain:	n/a	chr1:155033872-155033882
45	CTCF	chr1:155033800-155033950	GM06990	blood:	n/a	n/a
46	CTCF	chr1:155033828-155034488	MCF-7	breast:	n/a	n/a
47	RAD21	chr1:155033712-155034549	A549	lung:	n/a	n/a
48	RAD21	chr1:155033913-155034320	GM12878	blood:	n/a	n/a
49	MAZ	chr1:155033718-155034900	IMR90	lung:	n/a	chr1:155034868-155034878
50	ATF3	chr1:155033832-155034362	A549	lung:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154933980..154934779-chr1:155033787..155034288,2	MCF-7	breast:
2	chr1:155025107..155025791-chr1:155033752..155034621,2	K562	blood:
3	chr1:154878968..154879554-chr1:155033669..155034389,2	MCF-7	breast:
4	chr1:154641931..154642817-chr1:155033668..155034517,2	K562	blood:
5	chr1:155033719..155034440-chr1:155140008..155140582,2	MCF-7	breast:
6	chr1:154944693..154948498-chr1:155033358..155037574,5	K562	blood:
7	chr1:154939878..154945720-chr1:155033369..155036154,5	MCF-7	breast:
8	chr1:154908713..154910557-chr1:155032303..155034913,2	MCF-7	breast:
9	chr1:154971124..154975632-chr1:155030158..155034057,4	K562	blood:
10	chr1:154971009..154978300-chr1:155033602..155036845,7	K562	blood:
11	chr1:155033872..155036303-chr1:155100815..155102776,3	MCF-7	breast:
12	chr1:155017179..155018121-chr1:155033686..155034594,8	MCF-7	breast:
13	chr1:154971259..154971790-chr1:155033673..155034611,3	K562	blood:
14	chr1:154927481..154932587-chr1:155031885..155037682,6	MCF-7	breast:
15	chr1:154943492..154949367-chr1:155033837..155038035,9	MCF-7	breast:
16	chr1:155033847..155038699-chr1:155096296..155100742,10	MCF-7	breast:
17	chr1:155017145..155017980-chr1:155033698..155034593,2	MCF-7	breast:
18	chr1:154532080..154532611-chr1:155033694..155034624,3	K562	blood:
19	chr1:155023672..155024298-chr1:155033678..155034413,2	K562	blood:
20	chr1:154932754..154935795-chr1:155033186..155037944,5	MCF-7	breast:
21	chr1:155022697..155023521-chr1:155033673..155034217,2	K562	blood:
22	chr1:154964932..154968514-chr1:155033457..155035305,3	K562	blood:
23	chr1:154878889..154879807-chr1:155033687..155034617,2	K562	blood:
24	chr1:154945666..154948498-chr1:155033358..155037574,4	K562	blood:
25	chr1:155024729..155025657-chr1:155033711..155034586,6	MCF-7	breast:
26	chr1:154969072..154977664-chr1:155030052..155039846,22	MCF-7	breast:

No data

Variant related genes	Relation type
EFNA4	TF binding region
ENSG00000251246	TF binding region
EFNA3	TF binding region
ADAM15	TF binding region
ENSG00000270361	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000163346	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000271380	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000173207	Chromatin interaction
ENSG00000264349	Chromatin interaction
ENSG00000160688	Chromatin interaction
ENSG00000163352	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs45444697	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811916	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv872456	chr1:155028692-155035611	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs41264285	ENSG00000143537	cis	multi-tissue	Pritchard
rs41264285	ADAM15	Cis_1M	lymphoblastoid	RTeQTL
rs41264285	ADAM15	cis	multi-tissue	Pritchard

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155025000-155034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:155025200-155034000	Weak transcription	NH-A	brain
3	chr1:155025200-155034200	Weak transcription	Psoas Muscle	Psoas
4	chr1:155025200-155034200	Weak transcription	NHDF-Ad	bronchial
5	chr1:155025400-155034000	Weak transcription	GM12878-XiMat	blood
6	chr1:155025600-155034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:155025800-155034000	Strong transcription	Brain Cingulate Gyrus	brain
8	chr1:155026000-155034200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:155026000-155034200	Weak transcription	Right Atrium	heart
10	chr1:155026200-155034000	Weak transcription	Fetal Lung	lung
11	chr1:155026200-155034200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:155026400-155034000	Strong transcription	Lung	lung
13	chr1:155026800-155034200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:155027800-155034200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:155029400-155034000	Weak transcription	Stomach Mucosa	stomach
16	chr1:155029400-155035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:155030000-155034200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:155030600-155034000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:155030800-155034000	Weak transcription	Fetal Brain Female	brain
20	chr1:155031200-155034000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:155031200-155034000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:155031200-155034000	Weak transcription	K562	blood
23	chr1:155031200-155034200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:155031200-155034200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:155031200-155034200	Weak transcription	NHLF	lung
26	chr1:155031200-155034200	Weak transcription	Osteobl	bone
27	chr1:155031400-155034200	Weak transcription	Small Intestine	intestine
28	chr1:155031400-155034200	Weak transcription	HepG2	liver
29	chr1:155031400-155034800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:155031400-155035800	Weak transcription	HSMMtube	muscle
31	chr1:155031600-155034000	Weak transcription	HSMM	muscle
32	chr1:155031600-155034200	Weak transcription	Primary T cells from cord blood	blood
33	chr1:155031600-155034200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:155031600-155035800	Weak transcription	Aorta	Aorta
35	chr1:155032600-155034000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:155032600-155034200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:155032600-155034200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:155033000-155034000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:155033200-155034000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:155033200-155034200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:155033200-155034400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:155033200-155035400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:155033400-155034000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:155033400-155034200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:155033400-155034200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:155033400-155034600	Genic enhancers	Adipose Nuclei	Adipose
47	chr1:155033400-155035200	Genic enhancers	Spleen	Spleen
48	chr1:155033600-155034000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:155033600-155034000	Weak transcription	Brain Substantia Nigra	brain
50	chr1:155033600-155034000	Genic enhancers	Fetal Muscle Leg	muscle

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