Variant report

Variant	rs587703779
Chromosome Location	chr1:150946273-150946274
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	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	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
5	MAX	chr1:150946041-150947532	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
6	ZNF263	chr1:150944461-150946776	HEK293-T-REx	kidney:	n/a	chr1:150945506-150945515
7	POLR2A	chr1:150945910-150946502	K562	blood:	n/a	n/a
8	POLR2A	chr1:150946087-150946777	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
10	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
11	POLR2A	chr1:150945815-150947589	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:150946108-150947925	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:150946152-150947574	GM18505	blood:	n/a	n/a
14	POLR2A	chr1:150945610-150946721	MCF-7	breast:	n/a	n/a
15	GTF2F1	chr1:150946236-150946581	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr1:150946187-150947970	K562	blood:	n/a	chr1:150947425-150947434 chr1:150947112-150947121
17	MAX	chr1:150945809-150946904	A549	lung:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
18	POLR2A	chr1:150945876-150946955	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr1:150946130-150946316	K562	blood:	n/a	n/a
20	MAZ	chr1:150945968-150947485	Hela-S3	cervix:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
21	MAX	chr1:150945835-150947595	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
22	POLR2A	chr1:150945977-150946298	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:150945738-150946785	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:150946138-150946808	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr1:150945618-150947671	HL-60	blood:	n/a	n/a
26	MAX	chr1:150946078-150947475	Hela-S3	cervix:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
27	POLR2A	chr1:150945561-150946474	K562	blood:	n/a	n/a
28	MAZ	chr1:150946128-150946342	K562	blood:	n/a	n/a
29	TAL1	chr1:150946109-150946303	K562	blood:	n/a	n/a
30	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
31	MAX	chr1:150946238-150946857	ECC-1	luminal epithelium:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
32	POLR2A	chr1:150945811-150946371	GM12878	blood:	n/a	n/a
33	HMGN3	chr1:150946052-150947918	K562	blood:	n/a	n/a
34	HEY1	chr1:150945976-150946357	K562	blood:	n/a	n/a
35	YY1	chr1:150945982-150946385	K562	blood:	n/a	chr1:150946157-150946168
36	MAX	chr1:150945853-150946741	NB4	blood:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
37	MYC	chr1:150946105-150947313	MCF10A-Er-Src	breast:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
38	MAX	chr1:150945995-150946913	ECC-1	luminal epithelium:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
39	POLR2A	chr1:150945962-150947605	GM12878	blood:	n/a	n/a
40	BHLHE40	chr1:150946091-150946321	K562	blood:	n/a	chr1:150946104-150946120
41	POLR2A	chr1:150945601-150947608	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:150946159-150946303	H1-hESC	embryonic stem cell:	n/a	n/a
43	TEAD4	chr1:150945887-150946451	K562	blood:	n/a	n/a
44	POLR2A	chr1:150946142-150947706	HUVEC	blood vessel:	n/a	n/a
45	MYC	chr1:150945951-150947543	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
46	HEY1	chr1:150946003-150946338	K562	blood:	n/a	n/a
47	RUNX3	chr1:150945932-150946313	GM12878	blood:	n/a	n/a
48	RUNX3	chr1:150945913-150946860	GM12878	blood:	n/a	n/a
49	STAT5A	chr1:150946081-150946639	GM12878	blood:	n/a	chr1:150946155-150946167
50	CTCF	chr1:150946260-150946410	GM12873	blood:	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	chr1:150946206..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:

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000143384	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000197622	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	chr1:150942800-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:150943200-150946400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr1:150943200-150946400	Flanking Active TSS	Osteobl	bone
4	chr1:150943400-150946400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:150943400-150946400	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr1:150943400-150946400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr1:150943400-150946400	Transcr. at gene 5' and 3'	K562	blood
8	chr1:150943400-150946400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:150943400-150946600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:150944000-150946400	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr1:150944200-150946400	Flanking Active TSS	Colonic Mucosa	Colon
12	chr1:150944200-150946600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:150944200-150946600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr1:150944400-150946400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:150944400-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:150944400-150946400	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr1:150944400-150946400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr1:150944400-150946400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:150944400-150946600	Flanking Active TSS	Fetal Brain Female	brain
20	chr1:150944400-150946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:150944600-150946400	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:150944600-150946600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:150944800-150946400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:150945000-150946400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:150945000-150946400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:150945000-150946400	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr1:150945000-150946400	Flanking Active TSS	Right Atrium	heart
28	chr1:150945000-150946400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:150945000-150946400	Flanking Active TSS	HMEC	breast
30	chr1:150945000-150946600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:150945000-150946600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr1:150945000-150946600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:150945200-150946400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:150945200-150946400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:150945200-150946400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:150945200-150946400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:150945200-150946400	Flanking Active TSS	Dnd41	blood
38	chr1:150945200-150946400	Flanking Active TSS	HUVEC	blood vessel
39	chr1:150945200-150946800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:150945200-150947000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr1:150945400-150946400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:150945400-150946400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr1:150945400-150946400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:150945400-150946400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:150945400-150946400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:150945400-150946400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr1:150945400-150946400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr1:150945400-150946400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:150945400-150946600	Bivalent/Poised TSS	HepG2	liver
50	chr1:150945600-150946400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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