Variant report

Variant	rs72948418
Chromosome Location	chr1:84944697-84944698
allele	C/T
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	chr1:84944680-84944830	NHEK	skin:	n/a	n/a
2	GABPA	chr1:84944220-84945464	HL-60	blood:	n/a	chr1:84945217-84945228 chr1:84945219-84945228
3	POLR2A	chr1:84944696-84945450	ECC-1	luminal epithelium:	n/a	n/a
4	MXI1	chr1:84944409-84946625	SK-N-SH	brain:	n/a	n/a
5	TBL1XR1	chr1:84944686-84945457	K562	blood:	n/a	n/a
6	NANOG	chr1:84944638-84945134	H1-hESC	embryonic stem cell:	n/a	n/a
7	MTA3	chr1:84944478-84945414	GM12878	blood:	n/a	n/a
8	TRIM28	chr1:84944550-84945315	K562	blood:	n/a	n/a
9	POLR2A	chr1:84944679-84945555	GM12892	blood:	n/a	n/a
10	GABPA	chr1:84944367-84945550	A549	lung:	n/a	chr1:84945217-84945228 chr1:84945219-84945228
11	IRF1	chr1:84944654-84945845	K562	blood:	n/a	chr1:84944926-84944946
12	POLR2A	chr1:84944669-84945464	HCT-116	colon:	n/a	n/a
13	POLR2A	chr1:84944563-84945635	GM19099	blood:	n/a	n/a
14	POLR2A	chr1:84944665-84945407	U87	brain:	n/a	n/a
15	POLR2A	chr1:84944659-84945759	MCF10A-Er-Src	breast:	n/a	n/a
16	SETDB1	chr1:84944465-84945164	U2OS	brain:	n/a	n/a
17	YY1	chr1:84944687-84945354	H1-hESC	embryonic stem cell:	n/a	chr1:84945207-84945218
18	TBP	chr1:84944662-84945593	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr1:84944637-84945441	SK-N-SH	brain:	n/a	chr1:84944884-84944893 chr1:84944883-84944894 chr1:84944883-84944894
20	YY1	chr1:84944599-84945570	SK-N-SH	brain:	n/a	chr1:84945207-84945218
21	POLR2A	chr1:84944682-84945535	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:84944551-84945638	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:84944524-84945623	SK-N-MC	brain:	n/a	n/a
24	MYC	chr1:84944477-84945953	K562	blood:	n/a	chr1:84945328-84945339 chr1:84945327-84945336 chr1:84945201-84945211 chr1:84945330-84945339 chr1:84945331-84945338 chr1:84945327-84945342 chr1:84945329-84945339
25	ELF1	chr1:84944690-84945115	K562	blood:	n/a	chr1:84944884-84944893 chr1:84944883-84944894 chr1:84944883-84944894
26	CEBPB	chr1:84944653-84945200	A549	lung:	n/a	n/a
27	ATF2	chr1:84944697-84945150	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr1:84944589-84945368	A549	lung:	n/a	n/a
29	ATF2	chr1:84944559-84945474	GM12878	blood:	n/a	n/a
30	SP1	chr1:84944664-84945302	A549	lung:	n/a	chr1:84945196-84945210 chr1:84945199-84945211
31	TCF12	chr1:84944639-84945413	ECC-1	luminal epithelium:	n/a	n/a
32	TBP	chr1:84944621-84945661	K562	blood:	n/a	n/a
33	PML	chr1:84944498-84945608	GM12878	blood:	n/a	n/a
34	GABPA	chr1:84944374-84945619	SK-N-SH	brain:	n/a	chr1:84945217-84945228 chr1:84945219-84945228
35	ZKSCAN1	chr1:84944646-84945430	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr1:84944415-84945430	H1-hESC	embryonic stem cell:	n/a	chr1:84945217-84945228 chr1:84945219-84945228
37	JUND	chr1:84944696-84945650	K562	blood:	n/a	n/a
38	MAZ	chr1:84944680-84945582	K562	blood:	n/a	chr1:84945328-84945339 chr1:84945327-84945336 chr1:84945201-84945211 chr1:84945330-84945339 chr1:84945331-84945338 chr1:84945327-84945342
39	POLR2A	chr1:84944389-84945755	PFSK-1	brain:	n/a	n/a
40	EGR1	chr1:84944671-84945099	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr1:84944682-84945301	K562	blood:	n/a	n/a
42	POLR2A	chr1:84944653-84945519	K562	blood:	n/a	n/a
43	ELF1	chr1:84944657-84945127	A549	lung:	n/a	chr1:84944884-84944893 chr1:84944883-84944894 chr1:84944883-84944894
44	MXI1	chr1:84944601-84945620	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:84944650-84945468	K562	blood:	n/a	n/a
46	ELF1	chr1:84944648-84945418	K562	blood:	n/a	chr1:84944884-84944893 chr1:84944883-84944894 chr1:84944883-84944894
47	REST	chr1:84944675-84945191	PANC-1	pancreas:	n/a	n/a
48	ELF1	chr1:84944681-84945220	MCF-7	breast:	n/a	chr1:84944884-84944893 chr1:84944883-84944894 chr1:84944883-84944894
49	NR2C2	chr1:84944658-84945086	K562	blood:	n/a	chr1:84944883-84944890
50	YY1	chr1:84944686-84945382	ECC-1	luminal epithelium:	n/a	chr1:84945207-84945218

No.	Distal block	Cell Line	Cell type
1	chr1:84943777..84946552-chr1:84970497..84973179,2	MCF-7	breast:
2	chr1:84944342..84945178-chr1:114354948..114355466,2	Hela-S3	cervix:
3	chr1:84943714..84946459-chr1:85038706..85040687,2	K562	blood:
4	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
5	chr1:84944684..84947410-chr1:84970225..84973395,6	MCF-7	breast:
6	chr1:84920904..84923414-chr1:84941843..84944839,2	K562	blood:
7	chr1:84928129..84930451-chr1:84943094..84944929,2	MCF-7	breast:

Variant related genes	Relation type
RPF1	TF binding region
ENSG00000081019	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1395418	0.80[AFR][1000 genomes]
rs41293029	0.80[AFR][1000 genomes]
rs72946368	0.80[AFR][1000 genomes]
rs72948410	0.95[AFR][1000 genomes]
rs72948421	0.80[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84943800-84944800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
2	chr1:84944000-84945000	ZNF genes & repeats	Placenta	Placenta
3	chr1:84944000-84945800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:84944200-84944800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr1:84944200-84944800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:84944200-84944800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr1:84944200-84944800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:84944200-84944800	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr1:84944200-84944800	Bivalent/Poised TSS	Fetal Lung	lung
10	chr1:84944200-84944800	ZNF genes & repeats	GM12878-XiMat	blood
11	chr1:84944200-84945000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:84944200-84945200	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:84944200-84945400	Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr1:84944200-84945800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:84944200-84946000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:84944200-84946200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:84944200-84946200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:84944200-84946200	Active TSS	A549	lung
19	chr1:84944200-84946400	Active TSS	Stomach Smooth Muscle	stomach
20	chr1:84944400-84944800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:84944400-84944800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:84944400-84944800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:84944400-84944800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:84944400-84944800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:84944400-84944800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:84944400-84944800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr1:84944400-84944800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:84944400-84944800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr1:84944400-84944800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:84944400-84944800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr1:84944400-84944800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:84944400-84944800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:84944400-84944800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr1:84944400-84944800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr1:84944400-84944800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr1:84944400-84944800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:84944400-84944800	Enhancers	Gastric	stomach
38	chr1:84944400-84944800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:84944400-84944800	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr1:84944400-84944800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:84944400-84944800	Flanking Active TSS	Dnd41	blood
42	chr1:84944400-84944800	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr1:84944400-84944800	Flanking Active TSS	HUVEC	blood vessel
44	chr1:84944400-84944800	Flanking Active TSS	K562	blood
45	chr1:84944400-84944800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:84944400-84944800	Flanking Active TSS	NHEK	skin
47	chr1:84944400-84945000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:84944400-84945000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:84944400-84945200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr1:84944400-84945400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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