Variant report

Variant	rs587758552
Chromosome Location	chr1:150945984-150945985
allele	G/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	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
2	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
3	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
4	ZNF263	chr1:150944461-150946776	HEK293-T-REx	kidney:	n/a	chr1:150945506-150945515
5	POLR2A	chr1:150945910-150946502	K562	blood:	n/a	n/a
6	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
7	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
8	MAZ	chr1:150945954-150946124	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:150945815-150947589	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:150945610-150946721	MCF-7	breast:	n/a	n/a
11	MAX	chr1:150945809-150946904	A549	lung:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
12	POLR2A	chr1:150945876-150946955	Hela-S3	cervix:	n/a	n/a
13	MAZ	chr1:150945968-150947485	Hela-S3	cervix:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
14	MAX	chr1:150945835-150947595	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
15	MAX	chr1:150945926-150946165	K562	blood:	n/a	n/a
16	POLR2A	chr1:150945977-150946298	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:150945738-150946785	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:150945618-150947671	HL-60	blood:	n/a	n/a
19	POLR2A	chr1:150945561-150946474	K562	blood:	n/a	n/a
20	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
21	POLR2A	chr1:150943265-150946270	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:150945811-150946371	GM12878	blood:	n/a	n/a
23	HEY1	chr1:150945976-150946357	K562	blood:	n/a	n/a
24	YY1	chr1:150945982-150946385	K562	blood:	n/a	chr1:150946157-150946168
25	MAX	chr1:150945853-150946741	NB4	blood:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
26	POLR2A	chr1:150945962-150947605	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:150945601-150947608	GM12892	blood:	n/a	n/a
28	TEAD4	chr1:150945887-150946451	K562	blood:	n/a	n/a
29	CTCF	chr1:150945860-150946010	SAEC	small airway:	n/a	n/a
30	MYC	chr1:150945951-150947543	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
31	RUNX3	chr1:150945932-150946313	GM12878	blood:	n/a	n/a
32	RUNX3	chr1:150945913-150946860	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:150945575-150946168	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:150945915-150947613	GM12878	blood:	n/a	n/a
35	MAX	chr1:150945494-150946907	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
36	POLR2A	chr1:150945942-150946260	MCF-7	breast:	n/a	n/a
37	TBL1XR1	chr1:150945980-150946160	K562	blood:	n/a	n/a
38	MXI1	chr1:150945539-150947660	IMR90	lung:	n/a	n/a
39	POLR2A	chr1:150945829-150947411	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:150945760-150950424	K562	blood:	n/a	n/a
41	SPI1	chr1:150945859-150946011	K562	blood:	n/a	n/a
42	EBF1	chr1:150945831-150946087	GM12878	blood:	n/a	chr1:150945931-150945940 chr1:150945929-150945942 chr1:150945931-150945941 chr1:150945930-150945941
43	NR2F2	chr1:150945537-150946411	K562	blood:	n/a	n/a
44	MXI1	chr1:150945855-150946588	HepG2	liver:	n/a	n/a
45	ELF1	chr1:150945703-150947575	GM12878	blood:	n/a	chr1:150947097-150947106 chr1:150946829-150946838 chr1:150946902-150946914 chr1:150946523-150946536 chr1:150946901-150946913 chr1:150947110-150947122
46	MYC	chr1:150945856-150947451	NB4	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
47	MYC	chr1:150945952-150947208	A549	lung:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
48	RCOR1	chr1:150945760-150946135	K562	blood:	n/a	n/a
49	MAX	chr1:150945757-150947814	A549	lung:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
50	POLR2A	chr1:150945576-150946783	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150942867..150944822-chr1:150945093..150947347,2	K562	blood:
2	chr1:150897692..150900384-chr1:150944923..150947345,3	K562	blood:
3	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
4	chr1:150532877..150534407-chr1:150944654..150947502,2	MCF-7	breast:
5	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
6	chr1:150551378..150553300-chr1:150944488..150946159,2	MCF-7	breast:
7	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
8	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
9	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
10	chr1:150601091..150602624-chr1:150945367..150947119,2	MCF-7	breast:
11	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
12	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
13	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
14	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
15	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
16	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
17	chr1:150800839..150803595-chr1:150945444..150947443,2	K562	blood:
18	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000143420	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143418	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
6	esv3405761	chr1:150945953-150948501	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:150942800-150946000	Flanking Active TSS	Liver	Liver
2	chr1:150942800-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:150943000-150946000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:150943000-150946000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:150943200-150946000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:150943200-150946200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:150943200-150946400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr1:150943200-150946400	Flanking Active TSS	Osteobl	bone
9	chr1:150943400-150946000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:150943400-150946000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:150943400-150946000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr1:150943400-150946000	Flanking Active TSS	NHLF	lung
13	chr1:150943400-150946200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:150943400-150946200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:150943400-150946200	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr1:150943400-150946400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:150943400-150946400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr1:150943400-150946400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:150943400-150946400	Transcr. at gene 5' and 3'	K562	blood
20	chr1:150943400-150946400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:150943400-150946600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:150943600-150946000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:150943800-150946000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:150944000-150946000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:150944000-150946000	Enhancers	Small Intestine	intestine
26	chr1:150944000-150946400	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr1:150944200-150946000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:150944200-150946000	Flanking Active TSS	Hela-S3	cervix
29	chr1:150944200-150946200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr1:150944200-150946200	Flanking Active TSS	Fetal Lung	lung
31	chr1:150944200-150946200	Enhancers	Stomach Mucosa	stomach
32	chr1:150944200-150946400	Flanking Active TSS	Colonic Mucosa	Colon
33	chr1:150944200-150946600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:150944200-150946600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:150944400-150946200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:150944400-150946200	Flanking Active TSS	NH-A	brain
37	chr1:150944400-150946400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr1:150944400-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:150944400-150946400	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr1:150944400-150946400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:150944400-150946400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:150944400-150946600	Flanking Active TSS	Fetal Brain Female	brain
43	chr1:150944400-150946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:150944600-150946200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:150944600-150946400	Flanking Active TSS	GM12878-XiMat	blood
46	chr1:150944600-150946600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:150944800-150946000	Flanking Active TSS	Fetal Heart	heart
48	chr1:150944800-150946400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:150945000-150946000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:150945000-150946200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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