Variant report

Variant	rs1124911
Chromosome Location	chr15:83419244-83419245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:485)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:83418086-83420509	IMR90	lung:	n/a	n/a
2	POLR2A	chr15:83418756-83419712	U87	brain:	n/a	n/a
3	MAFK	chr15:83418763-83419574	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:83418900-83419571	A549	lung:	n/a	n/a
5	ZBTB7A	chr15:83419197-83419543	K562	blood:	n/a	chr15:83419498-83419512
6	YY1	chr15:83419047-83419444	HCT-116	colon:	n/a	n/a
7	TCF7L2	chr15:83419051-83419570	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr15:83418759-83419527	K562	blood:	n/a	n/a
9	YY1	chr15:83418690-83419563	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:83418963-83419509	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr15:83418801-83419653	MCF-7	breast:	n/a	n/a
12	MYC	chr15:83418143-83420144	K562	blood:	n/a	n/a
13	EP300	chr15:83418980-83419512	GM12878	blood:	n/a	n/a
14	REST	chr15:83418891-83419495	K562	blood:	n/a	chr15:83419392-83419405
15	E2F6	chr15:83419019-83419745	A549	lung:	n/a	n/a
16	SRF	chr15:83418010-83419818	HCT-116	colon:	n/a	chr15:83418327-83418345
17	SIX5	chr15:83418541-83419757	A549	lung:	n/a	n/a
18	RUNX3	chr15:83418709-83419938	GM12878	blood:	n/a	chr15:83418915-83418924
19	SMC3	chr15:83419148-83419317	K562	blood:	n/a	n/a
20	MAX	chr15:83418691-83419988	MCF-7	breast:	n/a	n/a
21	POLR2A	chr15:83418107-83419591	K562	blood:	n/a	n/a
22	POLR2A	chr15:83418907-83419556	GM12891	blood:	n/a	n/a
23	MBD4	chr15:83418960-83419617	HepG2	liver:	n/a	n/a
24	MXI1	chr15:83418645-83420082	GM12878	blood:	n/a	n/a
25	POU2F2	chr15:83419037-83419474	GM12891	blood:	n/a	n/a
26	POLR2A	chr15:83418154-83420230	K562	blood:	n/a	n/a
27	TAF1	chr15:83419120-83419461	GM12891	blood:	n/a	n/a
28	NRF1	chr15:83419100-83419361	HepG2	liver:	n/a	chr15:83419204-83419218 chr15:83419207-83419221 chr15:83419207-83419218
29	POLR2A	chr15:83418575-83419823	Hela-S3	cervix:	n/a	n/a
30	KAT2A	chr15:83419045-83419523	Hela-S3	cervix:	n/a	n/a
31	ELF1	chr15:83418971-83419500	K562	blood:	n/a	n/a
32	SIN3AK20	chr15:83418570-83420150	MCF-7	breast:	n/a	n/a
33	MXI1	chr15:83418515-83419629	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:83418533-83419734	HUVEC	blood vessel:	n/a	n/a
35	MAX	chr15:83419012-83419535	K562	blood:	n/a	n/a
36	MAX	chr15:83418758-83419809	SK-N-SH	brain:	n/a	n/a
37	TAF1	chr15:83418741-83419873	A549	lung:	n/a	n/a
38	REST	chr15:83418441-83419507	H1-neurons	neurons:	n/a	chr15:83419392-83419405
39	MAX	chr15:83418233-83419970	K562	blood:	n/a	n/a
40	SIN3AK20	chr15:83418944-83419621	HepG2	liver:	n/a	n/a
41	REST	chr15:83418587-83419704	A549	lung:	n/a	chr15:83419392-83419405 chr15:83419581-83419599
42	MYC	chr15:83419083-83419674	K562	blood:	n/a	n/a
43	TAF1	chr15:83418932-83419477	PFSK-1	brain:	n/a	n/a
44	MAX	chr15:83418903-83419908	HCT-116	colon:	n/a	n/a
45	ELF1	chr15:83418982-83419762	A549	lung:	n/a	n/a
46	GABPA	chr15:83419009-83419432	H1-hESC	embryonic stem cell:	n/a	chr15:83419035-83419044 chr15:83419204-83419218 chr15:83419207-83419221
47	CTCF	chr15:83419180-83419330	HFF-Myc	foreskin:	n/a	n/a
48	SIN3AK20	chr15:83418877-83419878	K562	blood:	n/a	n/a
49	TAL1	chr15:83418910-83419739	K562	blood:	n/a	n/a
50	CTCF	chr15:83419193-83419388	Spleen_OC	spleen:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83377715..83379913-chr15:83416850..83419570,2	K562	blood:
2	chr15:83406503..83408582-chr15:83417550..83419434,2	K562	blood:
3	chr10:126605433..126606405-chr15:83418843..83419580,2	Hela-S3	cervix:
4	chr15:83409906..83413739-chr15:83417431..83421180,7	MCF-7	breast:
5	chr15:83418877..83419415-chr5:90576252..90577188,2	Hela-S3	cervix:
6	chr15:83419019..83419549-chr6:151712577..151713286,2	Hela-S3	cervix:
7	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
8	chr15:83395862..83397682-chr15:83418535..83420495,2	MCF-7	breast:
9	chr15:83405385..83407649-chr15:83418078..83420843,2	MCF-7	breast:
10	chr15:83366312..83369718-chr15:83416708..83419690,4	MCF-7	breast:
11	chr15:83418815..83419582-chr7:2281581..2282468,2	Hela-S3	cervix:
12	chr15:83419140..83419667-chr9:19380174..19380701,2	NB4	blood:
13	chr15:83418706..83419650-chr3:50336333..50336903,2	Hela-S3	cervix:
14	chr15:83376531..83379793-chr15:83416772..83420723,7	MCF-7	breast:
15	chr15:83418143..83420234-chr15:83679510..83682009,2	K562	blood:
16	chr15:83417301..83420117-chr15:83653856..83657124,3	MCF-7	breast:
17	chr15:83417632..83419477-chr15:83677725..83680505,2	MCF-7	breast:
18	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
19	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
20	chr15:83417728..83420230-chr15:83734456..83736230,2	MCF-7	breast:
21	chr15:49912783..49913760-chr15:83418679..83419395,2	Hela-S3	cervix:
22	chr15:83418933..83419750-chr5:6632900..6633518,2	Hela-S3	cervix:
23	chr15:83346733..83351654-chr15:83416978..83420559,7	MCF-7	breast:
24	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:
25	chr15:83419077..83420010-chr19:2427415..2428249,2	Hela-S3	cervix:
26	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
27	chr15:83418742..83419414-chr15:83478376..83479191,2	Hela-S3	cervix:
28	chr15:83418796..83420367-chr7:73151838..73154315,2	MCF-7	breast:
29	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
30	chr15:83417737..83419972-chr15:83734703..83737369,2	K562	blood:
31	chr15:83347146..83349993-chr15:83416756..83419846,3	K562	blood:
32	chr15:83412491..83414976-chr15:83417541..83420012,4	MCF-7	breast:
33	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
34	chr15:83417813..83422044-chr15:83423321..83428058,7	MCF-7	breast:
35	chr15:83317439..83319648-chr15:83417162..83421021,3	MCF-7	breast:
36	chr15:83347977..83352145-chr15:83417264..83422141,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250988	TF binding region
SCARNA15	TF binding region
ENSG00000103723	Chromatin interaction
ENSG00000104047	Chromatin interaction
ENSG00000166262	Chromatin interaction
ENSG00000037474	Chromatin interaction
ENSG00000259442	Chromatin interaction
ENSG00000181472	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000122687	Chromatin interaction
ENSG00000106077	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000099800	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000249456	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000186628	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000145545	Chromatin interaction
ENSG00000234292	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000106268	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000169612	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28540813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28664062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28847707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3743102	0.92[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.88[MKK][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3803383	0.92[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4638544	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4779062	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7174656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8023873	0.85[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.89[MKK][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv3413738	chr15:83390947-83422928	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1124911	HDGFRP3	cis	parietal	SCAN
rs1124911	RASGRF1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83418000-83420000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:83418200-83420000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr15:83418200-83420200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:83418200-83420200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:83418200-83420400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr15:83418200-83420600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr15:83418200-83420600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:83418200-83420600	Active TSS	Right Ventricle	heart
9	chr15:83418400-83419600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:83418400-83419800	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr15:83418400-83419800	Active TSS	Colon Smooth Muscle	Colon
12	chr15:83418400-83419800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:83418400-83420000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:83418400-83420000	Active TSS	Brain Hippocampus Middle	brain
15	chr15:83418400-83420000	Active TSS	Colonic Mucosa	Colon
16	chr15:83418400-83420200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr15:83418400-83420200	Active TSS	Fetal Intestine Small	intestine
18	chr15:83418400-83420200	Active TSS	Lung	lung
19	chr15:83418400-83420200	Active TSS	Psoas Muscle	Psoas
20	chr15:83418400-83420400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:83418400-83420400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:83418400-83420400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:83418400-83420400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:83418400-83420400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:83418400-83420400	Active TSS	A549	lung
26	chr15:83418400-83420600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr15:83418400-83420600	Active TSS	Fetal Muscle Trunk	muscle
28	chr15:83418600-83419800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:83418600-83419800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:83418600-83419800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:83418600-83419800	Active TSS	Brain Germinal Matrix	brain
32	chr15:83418600-83419800	Active TSS	Duodenum Mucosa	Duodenum
33	chr15:83418600-83419800	Active TSS	Fetal Heart	heart
34	chr15:83418600-83419800	Active TSS	Placenta	Placenta
35	chr15:83418600-83420000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:83418600-83420000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:83418600-83420000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr15:83418600-83420000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:83418600-83420000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:83418600-83420000	Active TSS	Aorta	Aorta
41	chr15:83418600-83420000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:83418600-83420000	Active TSS	Fetal Muscle Leg	muscle
43	chr15:83418600-83420000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr15:83418600-83420000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr15:83418600-83420000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr15:83418600-83420000	Active TSS	K562	blood
47	chr15:83418600-83420000	Active TSS	NHLF	lung
48	chr15:83418600-83420200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:83418600-83420200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:83418600-83420200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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