Variant report

Variant	rs147854200
Chromosome Location	chr1:151762525-151762526
allele	C/T
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	HDAC2	chr1:151762485-151763768	MCF-7	breast:	n/a	n/a
2	HDAC2	chr1:151762308-151764216	MCF-7	breast:	n/a	n/a
3	PML	chr1:151762413-151763851	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr1:151762260-151764320	MCF-7	breast:	n/a	n/a
5	MAX	chr1:151762519-151763690	A549	lung:	n/a	n/a
6	MAX	chr1:151762329-151763658	HCT-116	colon:	n/a	n/a
7	EGR1	chr1:151762486-151763462	HCT-116	colon:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
8	YY1	chr1:151762525-151763190	HepG2	liver:	n/a	chr1:151763006-151763020 chr1:151763005-151763014 chr1:151762730-151762741
9	MAX	chr1:151762441-151763762	K562	blood:	n/a	n/a
10	POLR2A	chr1:151762481-151764180	H1-neurons	neurons:	n/a	n/a
11	SIN3AK20	chr1:151762437-151763692	PANC-1	pancreas:	n/a	n/a
12	EGR1	chr1:151762200-151763654	MCF-7	breast:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
13	CTCF	chr1:151762500-151762650	BE2_C	brain:	n/a	n/a
14	CTCF	chr1:151762480-151762630	GM12864	blood:	n/a	n/a
15	MAX	chr1:151762440-151763681	HCT-116	colon:	n/a	n/a
16	ARID3A	chr1:151762511-151762540	K562	blood:	n/a	n/a
17	MTA3	chr1:151762412-151763058	GM12878	blood:	n/a	n/a
18	MAZ	chr1:151762516-151763510	K562	blood:	n/a	n/a
19	ELF1	chr1:151762380-151764190	MCF-7	breast:	n/a	chr1:151763877-151763886
20	JUND	chr1:151762368-151762995	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr1:151762087-151764336	IMR90	lung:	n/a	n/a
22	STAT5A	chr1:151762524-151762996	GM12878	blood:	n/a	chr1:151762775-151762787
23	MAX	chr1:151762511-151764019	HepG2	liver:	n/a	chr1:151763829-151763839
24	SIN3AK20	chr1:151762238-151764160	MCF-7	breast:	n/a	n/a
25	GATA1	chr1:151762465-151763605	PBDE	blood:	n/a	n/a
26	ELF1	chr1:151762525-151764085	MCF-7	breast:	n/a	chr1:151763877-151763886
27	MAX	chr1:151762096-151764240	MCF-7	breast:	n/a	chr1:151763829-151763839
28	ELF1	chr1:151762511-151763361	GM12878	blood:	n/a	n/a
29	REST	chr1:151762364-151764219	H1-neurons	neurons:	n/a	chr1:151763910-151763917
30	HCFC1	chr1:151762293-151763862	Hela-S3	cervix:	n/a	n/a
31	EGR1	chr1:151762432-151764195	MCF-7	breast:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763828-151763838 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763847-151763857 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763816-151763831 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
32	HA-E2F1	chr1:151762517-151763605	MCF-7	breast:	n/a	chr1:151763005-151763014 chr1:151763053-151763062 chr1:151763002-151763014
33	EGR1	chr1:151762478-151763240	K562	blood:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
34	RFX5	chr1:151760827-151765002	SK-N-SH	brain:	n/a	chr1:151761465-151761474
35	GABPA	chr1:151762315-151764142	MCF-7	breast:	n/a	chr1:151763005-151763014
36	SP1	chr1:151762503-151763697	HCT-116	colon:	n/a	chr1:151763004-151763013 chr1:151763169-151763190 chr1:151763004-151763013 chr1:151763003-151763015 chr1:151763005-151763014
37	SIN3A	chr1:151762371-151764107	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr1:151762400-151762550	HEEpiC	esophagus:	n/a	n/a
39	E2F6	chr1:151762415-151763602	H1-hESC	embryonic stem cell:	n/a	chr1:151763005-151763014 chr1:151763053-151763062 chr1:151763002-151763014
40	MAX	chr1:151762507-151763782	ECC-1	luminal epithelium:	n/a	n/a
41	MXI1	chr1:151761776-151764760	SK-N-SH	brain:	n/a	n/a
42	RAD21	chr1:151762471-151763077	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr1:151762460-151762610	HPAF	blood vessel:	n/a	n/a
44	RAD21	chr1:151762477-151763757	MCF-7	breast:	n/a	n/a
45	E2F6	chr1:151762505-151763541	A549	lung:	n/a	chr1:151763005-151763014 chr1:151763053-151763062 chr1:151763002-151763014
46	EGR1	chr1:151762375-151763535	HCT-116	colon:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
47	MAX	chr1:151762518-151764162	HepG2	liver:	n/a	chr1:151763829-151763839
48	TAF1	chr1:151762426-151763541	H1-neurons	neurons:	n/a	n/a
49	MAX	chr1:151762435-151763819	MCF-7	breast:	n/a	n/a
50	E2F6	chr1:151762489-151764058	K562	blood:	n/a	chr1:151763005-151763014 chr1:151763053-151763062 chr1:151763743-151763753 chr1:151763729-151763738 chr1:151763002-151763014

No.	Distal block	Cell Line	Cell type
1	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
2	chr1:151760700..151764856-chr1:151797170..151799946,4	MCF-7	breast:
3	chr1:151511022..151513078-chr1:151762186..151764520,2	MCF-7	breast:
4	chr1:151736194..151739106-chr1:151761711..151764631,3	K562	blood:
5	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
6	chr1:151727449..151729119-chr1:151762483..151764442,2	K562	blood:
7	chr1:151740105..151741815-chr1:151762387..151764682,2	MCF-7	breast:
8	chr1:151042193..151044467-chr1:151761804..151763901,2	MCF-7	breast:
9	chr1:151761172..151762786-chr1:151788164..151789988,2	MCF-7	breast:
10	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
11	chr1:151739515..151742335-chr1:151761325..151763693,2	MCF-7	breast:
12	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
13	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
14	chr1:151759662..151762835-chr1:151769243..151771568,4	K562	blood:
15	chr1:151762360..151764432-chr1:151777142..151778868,2	MCF-7	breast:
16	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203288	TF binding region
ENSG00000250734	Chromatin interaction
ENSG00000249602	Chromatin interaction
ENSG00000269621	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000269489	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000213171	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143376	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr1:151736800-151762600	Weak transcription	Gastric	stomach
2	chr1:151737000-151762600	Weak transcription	Small Intestine	intestine
3	chr1:151741000-151762600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:151742800-151762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:151749200-151762600	Weak transcription	Spleen	Spleen
6	chr1:151749600-151762600	Weak transcription	Lung	lung
7	chr1:151755400-151762600	Weak transcription	Aorta	Aorta
8	chr1:151761600-151763000	Flanking Active TSS	Dnd41	blood
9	chr1:151761800-151764600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:151762000-151762600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:151762000-151762600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:151762000-151762600	Flanking Active TSS	K562	blood
13	chr1:151762000-151763000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:151762000-151764200	Active TSS	Fetal Kidney	kidney
15	chr1:151762000-151764400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:151762000-151764400	Active TSS	Brain Germinal Matrix	brain
17	chr1:151762000-151764400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:151762000-151764600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr1:151762000-151764600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:151762200-151762600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr1:151762200-151762600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr1:151762200-151762600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr1:151762200-151762600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:151762200-151762600	Flanking Active TSS	Fetal Brain Male	brain
25	chr1:151762200-151762800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr1:151762200-151762800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:151762200-151762800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:151762200-151762800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:151762200-151762800	Flanking Active TSS	NHEK	skin
30	chr1:151762200-151763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:151762200-151763000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr1:151762200-151763000	Flanking Active TSS	HUVEC	blood vessel
33	chr1:151762200-151763200	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:151762200-151763800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:151762200-151764000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:151762200-151764000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:151762200-151764000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:151762200-151764000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:151762200-151764000	Active TSS	Fetal Brain Female	brain
40	chr1:151762200-151764200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr1:151762200-151764200	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:151762200-151764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:151762200-151764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:151762200-151764400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:151762200-151764400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:151762200-151764400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:151762200-151764400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:151762200-151764400	Active TSS	Brain Angular Gyrus	brain
49	chr1:151762200-151764400	Active TSS	Brain Anterior Caudate	brain
50	chr1:151762200-151764400	Active TSS	A549	lung

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