Variant report

Variant	rs185371868
Chromosome Location	chr1:150946498-150946499
allele	C/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	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
2	MAFK	chr1:150946230-150946590	Hela-S3	cervix:	n/a	n/a
3	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
4	TAF1	chr1:150946385-150947194	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
6	POLR2A	chr1:150946352-150946534	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:150946041-150947532	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
8	HEY1	chr1:150946424-150947638	K562	blood:	n/a	chr1:150947361-150947376 chr1:150947432-150947447 chr1:150947110-150947125 chr1:150947376-150947391
9	ZNF263	chr1:150944461-150946776	HEK293-T-REx	kidney:	n/a	chr1:150945506-150945515
10	POLR2A	chr1:150946355-150947626	HUVEC	blood vessel:	n/a	n/a
11	STAT3	chr1:150946404-150946563	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:150945910-150946502	K562	blood:	n/a	n/a
13	JUND	chr1:150946434-150947094	A549	lung:	n/a	n/a
14	POLR2A	chr1:150946475-150947305	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:150946087-150946777	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
17	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
18	MAX	chr1:150946473-150946661	HepG2	liver:	n/a	chr1:150946541-150946551
19	POLR2A	chr1:150945815-150947589	Hela-S3	cervix:	n/a	n/a
20	ELF1	chr1:150946297-150946688	K562	blood:	n/a	chr1:150946523-150946536
21	MYC	chr1:150946465-150946726	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
22	POLR2A	chr1:150946108-150947925	GM12892	blood:	n/a	n/a
23	CHD1	chr1:150946424-150946670	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:150946152-150947574	GM18505	blood:	n/a	n/a
25	POLR2A	chr1:150946453-150947518	GM19099	blood:	n/a	n/a
26	POLR2A	chr1:150945610-150946721	MCF-7	breast:	n/a	n/a
27	GTF2F1	chr1:150946236-150946581	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr1:150946317-150946616	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:150946404-150947605	A549	lung:	n/a	n/a
30	CCNT2	chr1:150946187-150947970	K562	blood:	n/a	chr1:150947425-150947434 chr1:150947112-150947121
31	MAX	chr1:150945809-150946904	A549	lung:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
32	POLR2A	chr1:150945876-150946955	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr1:150946493-150946528	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr1:150946471-150946658	H1-hESC	embryonic stem cell:	n/a	chr1:150946541-150946551
35	TAF1	chr1:150946317-150947173	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAZ	chr1:150945968-150947485	Hela-S3	cervix:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
37	MAX	chr1:150945835-150947595	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
38	CTCF	chr1:150946460-150946610	BJ	skin:	n/a	n/a
39	POLR2A	chr1:150945738-150946785	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr1:150946405-150946605	K562	blood:	n/a	n/a
41	MXI1	chr1:150946394-150946652	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:150946138-150946808	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr1:150945618-150947671	HL-60	blood:	n/a	n/a
44	MAX	chr1:150946078-150947475	Hela-S3	cervix:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
45	STAT3	chr1:150946437-150946621	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr1:150946453-150946570	K562	blood:	n/a	chr1:150946541-150946551
47	POLR2A	chr1:150946394-150947578	GM18951	blood:	n/a	n/a
48	HEY1	chr1:150946451-150946640	K562	blood:	n/a	n/a
49	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
50	YY1	chr1:150946404-150947201	GM12892	blood:	n/a	chr1:150946900-150946911 chr1:150946901-150946915 chr1:150946826-150946837 chr1:150946759-150946770 chr1:150946991-150947002 chr1:150947114-150947128 chr1:150946906-150946915

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	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
4	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
5	chr1:150532877..150534407-chr1:150944654..150947502,2	MCF-7	breast:
6	chr1:150946136..150947648-chr1:151031480..151034167,2	MCF-7	breast:
7	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
8	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
9	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
10	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
11	chr1:150601091..150602624-chr1:150945367..150947119,2	MCF-7	breast:
12	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
13	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
14	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
15	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
16	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
17	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
18	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
19	chr1:150800839..150803595-chr1:150945444..150947443,2	K562	blood:
20	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
21	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:
22	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000143401	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143379	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	chr1:150943400-150946600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:150944200-150946600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:150944200-150946600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:150944400-150946600	Flanking Active TSS	Fetal Brain Female	brain
5	chr1:150944400-150946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:150944600-150946600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:150945000-150946600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:150945000-150946600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr1:150945000-150946600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:150945200-150946800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:150945200-150947000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:150945400-150946600	Bivalent/Poised TSS	HepG2	liver
13	chr1:150945600-150946600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr1:150945600-150946600	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr1:150945600-150946600	Flanking Active TSS	Placenta	Placenta
16	chr1:150945600-150946600	Flanking Active TSS	Fetal Thymus	thymus
17	chr1:150945600-150946800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:150945600-150947800	Active TSS	HSMMtube	muscle
19	chr1:150945600-150947800	Active TSS	NHDF-Ad	bronchial
20	chr1:150945600-150948000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:150945600-150948000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:150945800-150946600	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr1:150945800-150946600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:150945800-150946600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:150945800-150946600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:150945800-150946600	Flanking Active TSS	Esophagus	oesophagus
27	chr1:150945800-150946800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:150945800-150947000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:150945800-150947800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:150945800-150947800	Active TSS	A549	lung
31	chr1:150945800-150948000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:150945800-150948000	Active TSS	Fetal Kidney	kidney
33	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:150946000-150946600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:150946000-150946600	Active TSS	Fetal Heart	heart
37	chr1:150946000-150946800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:150946000-150947600	Active TSS	Lung	lung
39	chr1:150946000-150947800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:150946000-150947800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:150946000-150947800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:150946000-150947800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:150946000-150947800	Active TSS	Liver	Liver
44	chr1:150946000-150947800	Active TSS	Pancreas	Pancrea
45	chr1:150946000-150947800	Active TSS	Hela-S3	cervix
46	chr1:150946000-150947800	Active TSS	NHLF	lung
47	chr1:150946000-150948000	Active TSS	Aorta	Aorta
48	chr1:150946000-150948000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr1:150946000-150948000	Active TSS	Ovary	ovary
50	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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