Variant report

Variant	rs72916003
Chromosome Location	chr4:120989088-120989089
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 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	chr4:120989073-120989162	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:120989080-120989118	MCF-7	breast:	n/a	n/a
4	POLR2A	chr4:120986908-120989985	GM12891	blood:	n/a	n/a
5	POLR2A	chr4:120987337-120989347	GM19099	blood:	n/a	n/a
6	POLR2A	chr4:120987175-120989426	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:120987396-120989166	GM12892	blood:	n/a	n/a
8	POLR2A	chr4:120987270-120989178	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr4:120987152-120989112	PBDE	blood:	n/a	n/a
10	POLR2A	chr4:120987501-120989360	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:120987075-120989540	K562	blood:	n/a	n/a
12	GTF2F1	chr4:120987340-120989274	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr4:120987453-120989578	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr4:120987219-120989379	K562	blood:	n/a	n/a
15	EP300	chr4:120987557-120989134	K562	blood:	n/a	chr4:120988036-120988052 chr4:120988608-120988615 chr4:120988776-120988790
16	RCOR1	chr4:120987491-120989172	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:120987349-120989466	GM18951	blood:	n/a	n/a
18	WRNIP1	chr4:120988949-120989692	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:120988946-120989340	ProgFib	skin:	n/a	n/a
20	BHLHE40	chr4:120987397-120989312	K562	blood:	n/a	chr4:120987705-120987721
21	MYC	chr4:120986892-120989484	K562	blood:	n/a	n/a
22	ZNF143	chr4:120987490-120989113	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:120989067-120989556	PANC-1	pancreas:	n/a	n/a
24	MXI1	chr4:120986904-120989097	IMR90	lung:	n/a	n/a
25	POLR2A	chr4:120988931-120989110	HUVEC	blood vessel:	n/a	n/a
26	EP300	chr4:120987516-120989162	GM12878	blood:	n/a	chr4:120988036-120988052 chr4:120988608-120988615 chr4:120988776-120988790
27	PML	chr4:120987500-120989102	K562	blood:	n/a	n/a
28	POLR2A	chr4:120987298-120989288	U87	brain:	n/a	n/a
29	POLR2A	chr4:120987163-120989871	K562	blood:	n/a	n/a
30	MXI1	chr4:120986183-120989454	SK-N-SH	brain:	n/a	n/a
31	RELA	chr4:120987261-120989116	GM10847	blood:	n/a	n/a
32	KAP1	chr4:120987512-120989283	HEK293	kidney:	n/a	n/a
33	SIN3A	chr4:120988994-120989297	H1-hESC	embryonic stem cell:	n/a	n/a
34	RCOR1	chr4:120987396-120989670	K562	blood:	n/a	n/a
35	POLR2A	chr4:120987349-120989227	GM19193	blood:	n/a	n/a
36	ZBTB7A	chr4:120988825-120989323	K562	blood:	n/a	n/a
37	POLR2A	chr4:120987326-120989395	K562	blood:	n/a	n/a
38	POLR2A	chr4:120987270-120989356	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:120987111-120989454	GM18505	blood:	n/a	n/a
40	ZNF143	chr4:120989079-120989434	K562	blood:	n/a	n/a
41	RELA	chr4:120987214-120989142	GM18951	blood:	n/a	n/a
42	NFIC	chr4:120988939-120989430	ECC-1	luminal epithelium:	n/a	n/a
43	TBP	chr4:120987265-120989690	K562	blood:	n/a	n/a
44	POLR2A	chr4:120987167-120989424	HepG2	liver:	n/a	n/a
45	HCFC1	chr4:120987501-120989114	K562	blood:	n/a	n/a
46	KAP1	chr4:120988903-120989188	K562	blood:	n/a	n/a
47	SIN3AK20	chr4:120987186-120989195	HCT-116	colon:	n/a	n/a
48	MXI1	chr4:120987006-120989151	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:120986921-120989713	K562	blood:	n/a	n/a
50	POLR2A	chr4:120987388-120989291	GM12878	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
ENSG00000164096	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000164109	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000269893	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72914365	1.00[AMR][1000 genomes]
rs72916023	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120986000-120989200	Active TSS	K562	blood
2	chr4:120986400-120989200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:120986400-120989200	Active TSS	GM12878-XiMat	blood
4	chr4:120986400-120989400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr4:120986800-120989400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr4:120986800-120989800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:120987000-120989600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:120987200-120989200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:120987400-120989200	Active TSS	Left Ventricle	heart
10	chr4:120987400-120989200	Active TSS	Right Atrium	heart
11	chr4:120987600-120989200	Active TSS	Aorta	Aorta
12	chr4:120987600-120989200	Active TSS	Right Ventricle	heart
13	chr4:120988400-120989200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:120988400-120989200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr4:120988400-120989200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr4:120988400-120989400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr4:120988400-120989400	Flanking Active TSS	HUVEC	blood vessel
18	chr4:120988400-120989600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:120988600-120989200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr4:120988600-120989200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr4:120988600-120989200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr4:120988600-120989200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr4:120988600-120989200	Active TSS	HepG2	liver
24	chr4:120988600-120989400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr4:120988600-120989400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:120988600-120989400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:120988600-120989400	Flanking Active TSS	NH-A	brain
28	chr4:120988800-120989200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:120988800-120989200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:120988800-120989200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:120988800-120989200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr4:120988800-120989200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:120988800-120989200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr4:120988800-120989200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr4:120988800-120989200	Enhancers	Brain Germinal Matrix	brain
36	chr4:120988800-120989200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr4:120988800-120989200	Flanking Active TSS	Fetal Lung	lung
38	chr4:120988800-120989200	Flanking Active TSS	Fetal Stomach	stomach
39	chr4:120988800-120989200	Enhancers	Gastric	stomach
40	chr4:120988800-120989200	Enhancers	Spleen	Spleen
41	chr4:120988800-120989200	Flanking Active TSS	Hela-S3	cervix
42	chr4:120988800-120989400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:120988800-120989400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:120988800-120989400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr4:120988800-120989400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:120988800-120989400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:120988800-120989400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr4:120988800-120989400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:120988800-120989400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:120988800-120989400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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