Variant report

Variant	rs72660534
Chromosome Location	chr4:107238759-107238760
allele	A/G
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	CEBPB	chr4:107238532-107238826	IMR90	lung:	n/a	chr4:107238684-107238695
2	MXI1	chr4:107235967-107238818	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr4:107236575-107239230	IMR90	lung:	n/a	n/a
4	POLR2A	chr4:107236164-107239299	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:107236078-107240087	K562	blood:	n/a	n/a
6	POLR2A	chr4:107236087-107238920	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr4:107236150-107239192	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:107236165-107239379	IMR90	lung:	n/a	n/a
9	POLR2A	chr4:107236566-107238918	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:107238537-107238802	HepG2	liver:	n/a	chr4:107238684-107238695
11	POLR2A	chr4:107236452-107238956	ProgFib	skin:	n/a	n/a
12	POLR2A	chr4:107236059-107239397	HepG2	liver:	n/a	n/a
13	STAT3	chr4:107238581-107239041	MCF10A-Er-Src	breast:	n/a	n/a
14	HEY1	chr4:107236097-107239161	HepG2	liver:	n/a	n/a
15	MAZ	chr4:107236869-107239009	IMR90	lung:	n/a	n/a
16	TBP	chr4:107236182-107238958	K562	blood:	n/a	n/a
17	POLR2A	chr4:107236656-107238929	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:107236643-107238808	K562	blood:	n/a	n/a
19	POLR2A	chr4:107236519-107239214	GM18505	blood:	n/a	n/a
20	CEBPB	chr4:107238512-107238864	K562	blood:	n/a	chr4:107238684-107238695
21	HEY1	chr4:107235975-107239381	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:107236175-107239319	GM12891	blood:	n/a	n/a
23	POLR2A	chr4:107236155-107239882	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107237524..107239037-chr4:107241153..107242940,2	MCF-7	breast:
2	chr4:107226289..107231817-chr4:107234990..107238909,9	MCF-7	breast:

Variant related genes	Relation type
TBCK	TF binding region
ENSG00000145348	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72660520	1.00[AMR][1000 genomes]
rs72660547	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1819960	chr4:107216320-107246136	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107235200-107239000	Active TSS	GM12878-XiMat	blood
2	chr4:107235200-107239000	Active TSS	K562	blood
3	chr4:107235400-107238800	Active TSS	NHLF	lung
4	chr4:107235600-107239400	Active TSS	A549	lung
5	chr4:107235800-107238800	Active TSS	Fetal Intestine Large	intestine
6	chr4:107236200-107238800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr4:107236200-107238800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:107236200-107239000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:107236200-107239000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:107236200-107239000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:107236200-107239000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:107236200-107239000	Active TSS	Aorta	Aorta
13	chr4:107236200-107239000	Active TSS	Psoas Muscle	Psoas
14	chr4:107236200-107240000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:107236400-107238800	Active TSS	Placenta	Placenta
16	chr4:107236400-107239000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr4:107236400-107239200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:107236400-107239400	Active TSS	Colonic Mucosa	Colon
19	chr4:107236600-107238800	Active TSS	Fetal Thymus	thymus
20	chr4:107236600-107238800	Active TSS	Ovary	ovary
21	chr4:107236600-107239000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:107237400-107239000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:107237800-107238800	Active TSS	Right Atrium	heart
24	chr4:107238000-107238800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr4:107238000-107238800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr4:107238000-107239000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr4:107238000-107239400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr4:107238000-107239400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:107238200-107238800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:107238200-107238800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:107238200-107238800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:107238200-107238800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr4:107238200-107238800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr4:107238200-107238800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr4:107238200-107238800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr4:107238200-107238800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr4:107238200-107238800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr4:107238200-107238800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr4:107238200-107238800	Flanking Active TSS	Thymus	Thymus
40	chr4:107238200-107238800	Flanking Active TSS	HSMMtube	muscle
41	chr4:107238200-107239000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr4:107238200-107239000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr4:107238200-107239000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr4:107238200-107239000	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr4:107238200-107239000	Flanking Active TSS	Fetal Brain Female	brain
46	chr4:107238200-107239000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr4:107238200-107239000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr4:107238200-107239200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:107238200-107239200	Flanking Active TSS	Fetal Lung	lung
50	chr4:107238200-107239200	Flanking Active TSS	HMEC	breast

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