Variant report

Variant	rs72994067
Chromosome Location	chr1:151249913-151249914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:151249661-151249947	K562	blood:	n/a	n/a
2	JUN	chr1:151249894-151250094	HepG2	liver:	n/a	chr1:151249984-151249997
3	ATF2	chr1:151249631-151250225	GM12878	blood:	n/a	n/a
4	NFATC1	chr1:151249573-151250265	GM12878	blood:	n/a	n/a
5	FOXM1	chr1:151249570-151250265	GM12878	blood:	n/a	n/a
6	SPI1	chr1:151249616-151250061	GM12891	blood:	n/a	n/a
7	NFIC	chr1:151249613-151250229	GM12878	blood:	n/a	n/a
8	JUND	chr1:151249790-151250073	HepG2	liver:	n/a	n/a
9	MEF2C	chr1:151249663-151250237	GM12878	blood:	n/a	n/a
10	JUN	chr1:151249754-151250063	K562	blood:	n/a	chr1:151249984-151249997
11	SPI1	chr1:151249342-151250263	GM12878	blood:	n/a	n/a
12	SPI1	chr1:151249544-151250088	HL-60	blood:	n/a	n/a
13	SP1	chr1:151249667-151250211	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:151249616-151250154	GM12878	blood:	n/a	n/a
15	YY1	chr1:151249495-151250214	GM12878	blood:	n/a	n/a
16	SPI1	chr1:151249491-151250376	HL-60	blood:	n/a	n/a
17	PML	chr1:151249561-151250325	GM12878	blood:	n/a	n/a
18	BCL3	chr1:151249737-151250474	GM12878	blood:	n/a	n/a
19	NFIC	chr1:151249366-151250421	GM12878	blood:	n/a	n/a
20	MTA3	chr1:151249542-151250458	GM12878	blood:	n/a	n/a
21	ATF2	chr1:151249598-151250338	GM12878	blood:	n/a	n/a
22	MTA3	chr1:151249505-151250277	GM12878	blood:	n/a	n/a
23	JUND	chr1:151249808-151250059	K562	blood:	n/a	n/a
24	POLR2A	chr1:151249742-151250320	GM12892	blood:	n/a	n/a
25	FOS	chr1:151249887-151250068	MCF10A-Er-Src	breast:	n/a	n/a
26	BCL11A	chr1:151249789-151250183	GM12878	blood:	n/a	n/a
27	RUNX3	chr1:151249739-151250278	GM12878	blood:	n/a	n/a
28	CEBPB	chr1:151249637-151250240	GM12878	blood:	n/a	n/a
29	SPI1	chr1:151249605-151250039	GM12878	blood:	n/a	n/a
30	MEF2A	chr1:151249674-151250158	GM12878	blood:	n/a	n/a
31	SPI1	chr1:151249494-151250291	GM12891	blood:	n/a	n/a
32	RUNX3	chr1:151249488-151250403	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:151249838-151250329	GM12891	blood:	n/a	n/a
34	BATF	chr1:151249748-151250176	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151249700..151251202-chr1:151318331..151319846,2	MCF-7	breast:
2	chr1:151226574..151228191-chr1:151249104..151251847,2	K562	blood:
3	1:151246650-151254384..1:151402394-151411623	GM12878	blood:
4	chr1:151232097..151234568-chr1:151249498..151251245,2	MCF-7	breast:
5	chr1:151245378..151247558-chr1:151247994..151250804,2	K562	blood:
6	chr1:151247943..151250148-chr1:151251598..151254812,3	K562	blood:
7	chr1:151170151..151172300-chr1:151249639..151251996,2	MCF-7	breast:
8	chr1:151247846..151250456-chr1:151251985..151256344,5	K562	blood:
9	chr1:151245093..151248113-chr1:151249690..151252378,3	MCF-7	breast:
10	chr1:151249897..151251766-chr1:151297149..151300296,3	MCF-7	breast:
11	chr1:151245277..151246878-chr1:151247994..151250057,2	K562	blood:
12	1:151171193-151178589..1:151246650-151254384	GM12878	blood:

No data

Variant related genes	Relation type
ZNF687	TF binding region
ENSG00000143373	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16833204	1.00[AMR][1000 genomes]
rs72992099	1.00[AMR][1000 genomes]
rs72994015	1.00[AMR][1000 genomes]
rs72994051	1.00[AMR][1000 genomes]
rs72994073	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
2	chr1:151235000-151253400	Weak transcription	Stomach Mucosa	stomach
3	chr1:151237600-151253200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:151239000-151253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151239400-151253400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:151240200-151253400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:151240400-151253200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:151240400-151253200	Weak transcription	Hela-S3	cervix
9	chr1:151240400-151253400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:151240600-151250200	Weak transcription	HepG2	liver
11	chr1:151240600-151253200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:151240600-151253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:151240600-151253200	Weak transcription	Right Ventricle	heart
14	chr1:151240600-151253200	Weak transcription	Dnd41	blood
15	chr1:151240600-151253400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:151240600-151253400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:151240600-151253400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:151240600-151253400	Weak transcription	Colonic Mucosa	Colon
19	chr1:151240600-151253400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:151240600-151253400	Weak transcription	Esophagus	oesophagus
21	chr1:151240600-151253400	Weak transcription	Fetal Kidney	kidney
22	chr1:151240600-151253400	Weak transcription	Fetal Lung	lung
23	chr1:151240600-151253400	Weak transcription	Pancreas	Pancrea
24	chr1:151240600-151253400	Weak transcription	Psoas Muscle	Psoas
25	chr1:151240600-151253400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:151240600-151253400	Weak transcription	HMEC	breast
27	chr1:151240600-151253400	Weak transcription	NHLF	lung
28	chr1:151240600-151254000	Weak transcription	Aorta	Aorta
29	chr1:151240800-151253400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:151240800-151253400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:151240800-151253400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:151240800-151253400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:151240800-151253400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:151240800-151253600	Weak transcription	Small Intestine	intestine
35	chr1:151241600-151253400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:151241600-151253400	Weak transcription	Left Ventricle	heart
37	chr1:151241800-151253200	Weak transcription	Brain Germinal Matrix	brain
38	chr1:151241800-151253400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:151242800-151253400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:151243000-151250200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:151243000-151253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:151243000-151253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:151243200-151253200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:151243200-151253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:151243200-151253200	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:151243200-151253200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:151243200-151253400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:151243200-151253400	Weak transcription	Brain Anterior Caudate	brain
49	chr1:151243200-151253400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:151243200-151253400	Weak transcription	Fetal Brain Female	brain

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