Variant report

Variant	rs151026053
Chromosome Location	chr7:129252857-129252858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr7:129252618-129252896	GM12878	blood:	n/a	n/a
2	MAX	chr7:129252198-129252972	NB4	blood:	n/a	chr7:129252330-129252340
3	RAD21	chr7:129252513-129253032	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:129252350-129253247	K562	blood:	n/a	n/a
5	TEAD4	chr7:129252333-129252996	K562	blood:	n/a	n/a
6	MAX	chr7:129252713-129252988	GM12878	blood:	n/a	n/a
7	CTCF	chr7:129252720-129252870	HCFaa	heart:	n/a	n/a
8	CTCF	chr7:129252720-129252870	SAEC	small airway:	n/a	n/a
9	CTCF	chr7:129252720-129252870	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr7:129252720-129252870	HFF-Myc	foreskin:	n/a	n/a
11	RAD21	chr7:129252589-129252939	HepG2	liver:	n/a	n/a
12	MAZ	chr7:129252323-129252932	GM12878	blood:	n/a	chr7:129252330-129252340
13	CTCF	chr7:129252740-129252890	GM12866	blood:	n/a	n/a
14	CTCF	chr7:129252477-129252992	K562	blood:	n/a	n/a
15	POLR2A	chr7:129250615-129252942	GM18505	blood:	n/a	n/a
16	RAD21	chr7:129252599-129252972	GM12878	blood:	n/a	n/a
17	SMC3	chr7:129252636-129252942	HepG2	liver:	n/a	n/a
18	CTCF	chr7:129252602-129252900	A549	lung:	n/a	n/a
19	CTCF	chr7:129252578-129252862	Gliobla	brain:	n/a	n/a
20	GTF2F1	chr7:129252486-129253115	Hela-S3	cervix:	n/a	n/a
21	MAFF	chr7:129252787-129252929	K562	blood:	n/a	n/a
22	POLR2A	chr7:129252450-129253124	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr7:129252720-129252870	AoAF	blood vessel:	n/a	n/a
24	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
25	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
26	RAD21	chr7:129252608-129252991	SK-N-SH_RA	brain:	n/a	n/a
27	RAD21	chr7:129252613-129252954	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr7:129252647-129252893	Spleen_OC	spleen:	n/a	n/a
29	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
30	MYC	chr7:129252713-129252889	K562	blood:	n/a	n/a
31	CTCF	chr7:129252620-129252989	HepG2	liver:	n/a	n/a
32	CTCF	chr7:129252583-129252980	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr7:129252658-129252909	Medullo	brain:	n/a	n/a
34	CTCF	chr7:129252720-129252870	HCPEpiC	choroid plexus:	n/a	n/a
35	WRNIP1	chr7:129252549-129253157	GM12878	blood:	n/a	n/a
36	CTCF	chr7:129252656-129252899	HUVEC	blood vessel:	n/a	n/a
37	RAD21	chr7:129252598-129252977	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:129252720-129252870	AG09309	skin:	n/a	n/a
39	CTCF	chr7:129252577-129253000	MCF-7	breast:	n/a	n/a
40	ARID3A	chr7:129252529-129253200	K562	blood:	n/a	n/a
41	RCOR1	chr7:129252319-129252968	K562	blood:	n/a	n/a
42	MXI1	chr7:129252499-129252947	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr7:129252720-129252870	HMF	breast:	n/a	n/a
44	ARID3A	chr7:129252338-129252934	HepG2	liver:	n/a	n/a
45	STAT3	chr7:129252812-129252922	MCF10A-Er-Src	breast:	n/a	n/a
46	MAX	chr7:129252171-129253008	A549	lung:	n/a	chr7:129252330-129252340
47	CTCF	chr7:129252840-129252990	A549	lung:	n/a	n/a
48	CTCF	chr7:129252669-129252882	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr7:129252645-129252868	GM13976	blood:	n/a	n/a
50	RAD21	chr7:129252670-129252922	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129040519..129043328-chr7:129251804..129254684,2	MCF-7	breast:
2	chr7:129252350..129253268-chr7:129275153..129276013,5	MCF-7	breast:
3	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
4	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
5	chr7:129072757..129075659-chr7:129250844..129252909,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273329	TF binding region
ENSG00000240204	Chromatin interaction
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3354852	chr7:129250541-129253089	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3394004	chr7:129250866-129253189	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129250000-129253000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:129250200-129253000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:129250200-129253000	Active TSS	GM12878-XiMat	blood
5	chr7:129250200-129253400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:129250400-129253000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:129250400-129253000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:129250400-129253000	Active TSS	Fetal Intestine Small	intestine
9	chr7:129250400-129253000	Active TSS	HSMM	muscle
10	chr7:129250400-129253000	Active TSS	NHDF-Ad	bronchial
11	chr7:129250400-129253200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:129250400-129253200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:129250400-129253200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:129250400-129253200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:129250400-129253200	Active TSS	NHLF	lung
16	chr7:129250400-129253400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:129250400-129253400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:129250600-129253000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:129250600-129253000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:129250600-129253000	Active TSS	Aorta	Aorta
21	chr7:129250600-129253000	Active TSS	Ovary	ovary
22	chr7:129250600-129253000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr7:129250600-129253000	Active TSS	A549	lung
24	chr7:129250600-129253200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:129250600-129253200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:129250600-129253400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:129250800-129253000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:129250800-129253000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:129250800-129253000	Active TSS	Colon Smooth Muscle	Colon
30	chr7:129250800-129253000	Active TSS	Esophagus	oesophagus
31	chr7:129250800-129253200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:129250800-129253200	Active TSS	Psoas Muscle	Psoas
33	chr7:129250800-129253200	Active TSS	Right Ventricle	heart
34	chr7:129251000-129253000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:129251000-129253000	Active TSS	Brain Germinal Matrix	brain
36	chr7:129251000-129253000	Active TSS	Lung	lung
37	chr7:129251000-129253000	Active TSS	Pancreas	Pancrea
38	chr7:129251000-129253000	Active TSS	Spleen	Spleen
39	chr7:129251400-129253000	Active TSS	HepG2	liver
40	chr7:129251800-129253000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:129252000-129253200	Active TSS	Right Atrium	heart
42	chr7:129252200-129253000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr7:129252200-129253000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:129252200-129253000	Active TSS	Stomach Mucosa	stomach
45	chr7:129252200-129253200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr7:129252200-129253200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:129252200-129253400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr7:129252200-129253400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr7:129252200-129253400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:129252400-129253000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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