Variant report

Variant	rs188150275
Chromosome Location	chr7:129252265-129252266
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	POLR2A	chr7:129251105-129252695	GM12878	blood:	n/a	n/a
2	MAX	chr7:129252198-129252972	NB4	blood:	n/a	chr7:129252330-129252340
3	E2F6	chr7:129250759-129252564	K562	blood:	n/a	chr7:129251519-129251530 chr7:129252029-129252038 chr7:129251390-129251400 chr7:129251392-129251401
4	POLR2A	chr7:129251195-129252293	A549	lung:	n/a	n/a
5	MXI1	chr7:129250841-129252501	HepG2	liver:	n/a	n/a
6	YY1	chr7:129250959-129252418	HepG2	liver:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
7	POLR2A	chr7:129250615-129252942	GM18505	blood:	n/a	n/a
8	CTCF	chr7:129252220-129252370	HUVEC	blood vessel:	n/a	n/a
9	CHD1	chr7:129250910-129252389	GM12878	blood:	n/a	chr7:129252102-129252112
10	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
11	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
12	UBTF	chr7:129251235-129252446	K562	blood:	n/a	n/a
13	POLR2A	chr7:129252177-129252328	MCF-7	breast:	n/a	n/a
14	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
15	YY1	chr7:129250807-129252536	K562	blood:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
16	POLR2A	chr7:129252255-129252708	MCF-7	breast:	n/a	n/a
17	MYC	chr7:129250922-129252357	K562	blood:	n/a	chr7:129252330-129252340
18	EGR1	chr7:129251130-129252326	K562	blood:	n/a	chr7:129252062-129252075 chr7:129252105-129252118 chr7:129251477-129251487 chr7:129252066-129252076 chr7:129251508-129251517
19	POLR2A	chr7:129252145-129252687	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:129252133-129252684	GM12878	blood:	n/a	n/a
21	MAX	chr7:129252171-129253008	A549	lung:	n/a	chr7:129252330-129252340
22	MAX	chr7:129250508-129252797	K562	blood:	n/a	chr7:129252330-129252340
23	POLR2A	chr7:129252115-129252741	H1-neurons	neurons:	n/a	n/a
24	YY1	chr7:129250780-129252643	SK-N-SH	brain:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129252548-129252556 chr7:129251475-129251486 chr7:129251457-129251479
25	CCNT2	chr7:129251174-129252290	K562	blood:	n/a	chr7:129251528-129251537
26	POLR2A	chr7:129251096-129252514	GM12892	blood:	n/a	n/a
27	POLR2A	chr7:129250785-129252798	Raji	blood:	n/a	n/a
28	REST	chr7:129250677-129252685	H1-neurons	neurons:	n/a	chr7:129252053-129252063
29	CBX3	chr7:129252248-129253018	K562	blood:	n/a	n/a
30	POLR2A	chr7:129250449-129252813	K562	blood:	n/a	n/a
31	MAZ	chr7:129250874-129253169	IMR90	lung:	n/a	chr7:129252330-129252340
32	NRF1	chr7:129250436-129252294	SK-N-SH	brain:	n/a	chr7:129251705-129251716
33	POLR2A	chr7:129250745-129252381	GM12892	blood:	n/a	n/a
34	CTCF	chr7:129252160-129252310	AG04449	skin:	n/a	n/a
35	NR2F2	chr7:129252108-129252993	K562	blood:	n/a	n/a
36	POLR2A	chr7:129252157-129252752	GM12892	blood:	n/a	n/a
37	CTCF	chr7:129250530-129253338	SK-N-SH	brain:	n/a	chr7:129250906-129250919 chr7:129251949-129251962
38	HA-E2F1	chr7:129251265-129252403	Hela-S3	cervix:	n/a	chr7:129252029-129252038 chr7:129251390-129251400 chr7:129251392-129251401
39	POLR2A	chr7:129252145-129252700	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:129251126-129252750	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr7:129252166-129252745	K562	blood:	n/a	n/a
42	POLR2A	chr7:129251121-129252341	A549	lung:	n/a	n/a
43	ZBTB7A	chr7:129252146-129252899	ECC-1	luminal epithelium:	n/a	chr7:129252222-129252233 chr7:129252737-129252751
44	HA-E2F1	chr7:129251031-129252463	MCF-7	breast:	n/a	chr7:129252029-129252038 chr7:129251390-129251400 chr7:129251392-129251401
45	SIN3AK20	chr7:129251165-129252380	K562	blood:	n/a	n/a
46	TEAD4	chr7:129252083-129253038	K562	blood:	n/a	n/a
47	E2F6	chr7:129251920-129252271	K562	blood:	n/a	chr7:129252029-129252038
48	ZBTB7A	chr7:129251114-129252797	K562	blood:	n/a	chr7:129252222-129252233 chr7:129252105-129252114 chr7:129252737-129252751
49	POLR2A	chr7:129251051-129252469	K562	blood:	n/a	n/a
50	MAX	chr7:129251019-129252561	HepG2	liver:	n/a	chr7:129252330-129252340

No.	Distal block	Cell Line	Cell type
1	chr7:129040519..129043328-chr7:129251804..129254684,2	MCF-7	breast:
2	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
3	chr7:129250084..129252552-chr7:129268663..129271453,3	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:

Variant related genes	Relation type
ENSG00000273329	TF binding region
ENSG00000128578	Chromatin interaction
ENSG00000240204	Chromatin interaction
ENSG00000106459	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	chr7:129250200-129252800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:129250200-129252800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:129250200-129252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:129250200-129252800	Active TSS	Fetal Kidney	kidney
7	chr7:129250200-129252800	Active TSS	HSMMtube	muscle
8	chr7:129250200-129253000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:129250200-129253000	Active TSS	GM12878-XiMat	blood
10	chr7:129250200-129253400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:129250400-129252400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr7:129250400-129252400	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:129250400-129252400	Active TSS	Stomach Smooth Muscle	stomach
14	chr7:129250400-129252600	Active TSS	Brain Substantia Nigra	brain
15	chr7:129250400-129252800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:129250400-129253000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:129250400-129253000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:129250400-129253000	Active TSS	Fetal Intestine Small	intestine
19	chr7:129250400-129253000	Active TSS	HSMM	muscle
20	chr7:129250400-129253000	Active TSS	NHDF-Ad	bronchial
21	chr7:129250400-129253200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:129250400-129253200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:129250400-129253200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:129250400-129253200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:129250400-129253200	Active TSS	NHLF	lung
26	chr7:129250400-129253400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:129250400-129253400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:129250600-129252400	Active TSS	Fetal Stomach	stomach
29	chr7:129250600-129252800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:129250600-129252800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr7:129250600-129253000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:129250600-129253000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:129250600-129253000	Active TSS	Aorta	Aorta
34	chr7:129250600-129253000	Active TSS	Ovary	ovary
35	chr7:129250600-129253000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr7:129250600-129253000	Active TSS	A549	lung
37	chr7:129250600-129253200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:129250600-129253200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:129250600-129253400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:129250800-129252400	Active TSS	Colonic Mucosa	Colon
41	chr7:129250800-129252400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:129250800-129252400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:129250800-129252400	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:129250800-129252600	Active TSS	Brain Angular Gyrus	brain
45	chr7:129250800-129252600	Active TSS	Brain Anterior Caudate	brain
46	chr7:129250800-129252600	Active TSS	Left Ventricle	heart
47	chr7:129250800-129252600	Active TSS	Hela-S3	cervix
48	chr7:129250800-129252600	Active TSS	HMEC	breast
49	chr7:129250800-129252600	Active TSS	K562	blood
50	chr7:129250800-129252600	Active TSS	NHEK	skin

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