Variant report

Variant	rs72686542
Chromosome Location	chr4:120989240-120989241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr4:120988770-120989306	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:120986908-120989985	GM12891	blood:	n/a	n/a
3	POLR2A	chr4:120987337-120989347	GM19099	blood:	n/a	n/a
4	POLR2A	chr4:120987175-120989426	GM12878	blood:	n/a	n/a
5	MAZ	chr4:120989208-120989423	K562	blood:	n/a	n/a
6	POLR2A	chr4:120987501-120989360	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:120987075-120989540	K562	blood:	n/a	n/a
8	GTF2F1	chr4:120987340-120989274	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:120987453-120989578	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr4:120987219-120989379	K562	blood:	n/a	n/a
11	POLR2A	chr4:120987349-120989466	GM18951	blood:	n/a	n/a
12	WRNIP1	chr4:120988949-120989692	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:120988946-120989340	ProgFib	skin:	n/a	n/a
14	BHLHE40	chr4:120987397-120989312	K562	blood:	n/a	chr4:120987705-120987721
15	MYC	chr4:120986892-120989484	K562	blood:	n/a	n/a
16	POLR2A	chr4:120989067-120989556	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr4:120987298-120989288	U87	brain:	n/a	n/a
18	POLR2A	chr4:120987163-120989871	K562	blood:	n/a	n/a
19	MXI1	chr4:120986183-120989454	SK-N-SH	brain:	n/a	n/a
20	KAP1	chr4:120987512-120989283	HEK293	kidney:	n/a	n/a
21	SIN3A	chr4:120988994-120989297	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr4:120987396-120989670	K562	blood:	n/a	n/a
23	ZBTB7A	chr4:120988825-120989323	K562	blood:	n/a	n/a
24	POLR2A	chr4:120987326-120989395	K562	blood:	n/a	n/a
25	POLR2A	chr4:120987270-120989356	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:120987111-120989454	GM18505	blood:	n/a	n/a
27	ZNF143	chr4:120989079-120989434	K562	blood:	n/a	n/a
28	NFIC	chr4:120988939-120989430	ECC-1	luminal epithelium:	n/a	n/a
29	TBP	chr4:120987265-120989690	K562	blood:	n/a	n/a
30	POLR2A	chr4:120987167-120989424	HepG2	liver:	n/a	n/a
31	TEAD4	chr4:120989129-120989663	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:120986921-120989713	K562	blood:	n/a	n/a
33	POLR2A	chr4:120987388-120989291	GM12878	blood:	n/a	n/a
34	IRF1	chr4:120987402-120989571	K562	blood:	n/a	chr4:120987502-120987516
35	POLR2A	chr4:120987348-120989329	GM12892	blood:	n/a	n/a
36	POLR2A	chr4:120988897-120989338	K562	blood:	n/a	n/a
37	POLR2A	chr4:120987163-120989241	K562	blood:	n/a	n/a
38	PML	chr4:120987080-120989490	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:120986967-120989560	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr4:120988895-120989287	K562	blood:	n/a	n/a
41	POLR2A	chr4:120987168-120989530	GM12878	blood:	n/a	n/a
42	MAFK	chr4:120987808-120989347	K562	blood:	n/a	n/a
43	POLR2A	chr4:120987356-120989288	U87	brain:	n/a	n/a
44	RUNX3	chr4:120987358-120989320	GM12878	blood:	n/a	n/a
45	MYC	chr4:120987274-120989314	K562	blood:	n/a	n/a
46	POLR2A	chr4:120987112-120989933	K562	blood:	n/a	n/a
47	POLR2A	chr4:120986955-120989506	HepG2	liver:	n/a	n/a
48	MTA3	chr4:120987089-120989271	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:120987170-120989241	Raji	blood:	n/a	n/a
50	JUND	chr4:120987310-120989729	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120981267..120985179-chr4:120986108..120989816,4	MCF-7	breast:
2	chr4:120131923..120135922-chr4:120985229..120990455,5	K562	blood:
3	chr4:120987081..120989411-chr4:129732197..129734433,2	K562	blood:
4	chr4:120131661..120133788-chr4:120986266..120989312,3	K562	blood:
5	chr4:120220396..120223311-chr4:120987092..120990068,3	K562	blood:
6	chr4:119198442..119201160-chr4:120987880..120989467,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-6	chr4:120988015-120991623	NONHSAT098115

No data

Variant related genes	Relation type
MAD2L1	TF binding region
ENSG00000269893	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000164096	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000164109	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10446729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10446730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61752609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61752610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6833927	1.00[AFR][1000 genomes]
rs72668809	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72668810	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72668812	1.00[AFR][1000 genomes]
rs72668814	1.00[AFR][1000 genomes]
rs72668820	1.00[AFR][1000 genomes]
rs72668821	1.00[AFR][1000 genomes]
rs72668824	1.00[AFR][1000 genomes]
rs72668829	1.00[AFR][1000 genomes]
rs72668830	1.00[AFR][1000 genomes]
rs72668835	1.00[AFR][1000 genomes]
rs72668836	1.00[AFR][1000 genomes]
rs72668838	1.00[AFR][1000 genomes]
rs72668839	1.00[AFR][1000 genomes]
rs72668840	1.00[AFR][1000 genomes]
rs72668859	1.00[AFR][1000 genomes]
rs72668868	1.00[AFR][1000 genomes]
rs72668872	1.00[AFR][1000 genomes]
rs72668874	1.00[AFR][1000 genomes]
rs72668875	1.00[AFR][1000 genomes]
rs72668898	1.00[AFR][1000 genomes]
rs72668899	1.00[AFR][1000 genomes]
rs72668902	1.00[AFR][1000 genomes]
rs72670409	1.00[AFR][1000 genomes]
rs72670410	1.00[AFR][1000 genomes]
rs72670412	1.00[AFR][1000 genomes]
rs72670414	1.00[AFR][1000 genomes]
rs72670415	1.00[AFR][1000 genomes]
rs72670416	1.00[AFR][1000 genomes]
rs72670420	1.00[AFR][1000 genomes]
rs72670421	1.00[AFR][1000 genomes]
rs72670425	1.00[AFR][1000 genomes]
rs72670427	1.00[AFR][1000 genomes]
rs72670428	1.00[AFR][1000 genomes]
rs72670431	1.00[AFR][1000 genomes]
rs72670444	1.00[AFR][1000 genomes]
rs72670447	1.00[AFR][1000 genomes]
rs72686517	1.00[AFR][1000 genomes]
rs72686518	1.00[AFR][1000 genomes]
rs72686524	1.00[AFR][1000 genomes]
rs72686526	1.00[AFR][1000 genomes]
rs72686529	1.00[AFR][1000 genomes]
rs72686533	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72686534	1.00[AFR][1000 genomes]
rs72686538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686544	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686546	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686547	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686550	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686552	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7662162	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120986400-120989400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr4:120986800-120989400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr4:120986800-120989800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:120987000-120989600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:120988400-120989400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr4:120988400-120989400	Flanking Active TSS	HUVEC	blood vessel
7	chr4:120988400-120989600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:120988600-120989400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr4:120988600-120989400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:120988600-120989400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr4:120988600-120989400	Flanking Active TSS	NH-A	brain
12	chr4:120988800-120989400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:120988800-120989400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:120988800-120989400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:120988800-120989400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:120988800-120989400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:120988800-120989400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr4:120988800-120989400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:120988800-120989400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:120988800-120989400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:120988800-120989400	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr4:120988800-120989400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr4:120988800-120989400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:120988800-120989400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr4:120988800-120989400	Flanking Active TSS	Fetal Heart	heart
26	chr4:120988800-120989400	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr4:120988800-120989400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr4:120988800-120989400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr4:120988800-120989400	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr4:120988800-120989400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:120988800-120989400	Flanking Active TSS	HMEC	breast
32	chr4:120988800-120989400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr4:120988800-120989600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:120988800-120989600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:120988800-120989600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr4:120988800-120989600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr4:120988800-120989600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:120988800-120989600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:120988800-120989600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr4:120988800-120989600	Flanking Active TSS	Osteobl	bone
41	chr4:120988800-120989800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:120988800-120989800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:120988800-120989800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr4:120988800-120989800	Flanking Active TSS	NHEK	skin
45	chr4:120989000-120989400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:120989000-120989400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:120989000-120989400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr4:120989000-120989400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr4:120989000-120989400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:120989000-120989400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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