Variant report

Variant	rs375250678
Chromosome Location	chr1:150552803-150552804
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	chr1:150546850-150552818	GM12878	blood:	n/a	n/a
2	MAX	chr1:150551063-150552871	H1-hESC	embryonic stem cell:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
3	POLR2A	chr1:150551528-150552844	SK-N-SH	brain:	n/a	n/a
4	MYC	chr1:150551800-150552814	H1-hESC	embryonic stem cell:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
5	SRF	chr1:150550634-150552910	MCF-7	breast:	n/a	chr1:150551994-150552009 chr1:150552167-150552185 chr1:150552169-150552187 chr1:150552172-150552189 chr1:150552170-150552185
6	POLR2A	chr1:150546864-150552806	GM18505	blood:	n/a	n/a
7	SIN3AK20	chr1:150550672-150552836	HCT-116	colon:	n/a	n/a
8	REST	chr1:150549530-150553038	H1-neurons	neurons:	n/a	chr1:150552093-150552101
9	POLR2A	chr1:150550660-150553289	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:150550505-150553020	K562	blood:	n/a	n/a
11	POLR2A	chr1:150546598-150553153	U87	brain:	n/a	n/a
12	POLR2A	chr1:150546807-150552855	SK-N-SH	brain:	n/a	n/a
13	MTA3	chr1:150552264-150552848	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:150550143-150552808	H1-neurons	neurons:	n/a	n/a
15	CHD1	chr1:150546653-150553181	IMR90	lung:	n/a	n/a
16	POLR2A	chr1:150552715-150553204	K562	blood:	n/a	n/a
17	POLR2A	chr1:150530622-150553130	IMR90	lung:	n/a	n/a
18	POLR2A	chr1:150538654-150552953	Hela-S3	cervix:	n/a	n/a
19	HCFC1	chr1:150548026-150553103	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:150530539-150552850	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:150538736-150552926	GM12878	blood:	n/a	n/a
22	ATF2	chr1:150552283-150552807	H1-hESC	embryonic stem cell:	n/a	chr1:150552331-150552338
23	POLR2A	chr1:150538866-150553173	U87	brain:	n/a	n/a
24	MYC	chr1:150550859-150552817	K562	blood:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
25	MAX	chr1:150550665-150552904	MCF-7	breast:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
26	POLR2A	chr1:150550402-150552882	PFSK-1	brain:	n/a	n/a
27	SMARCB1	chr1:150550838-150552949	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:150538877-150553278	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:150538822-150553196	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr1:150550698-150552981	HepG2	liver:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
31	MAX	chr1:150550772-150553047	K562	blood:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
32	RUNX3	chr1:150552271-150552809	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:150546764-150553012	HUVEC	blood vessel:	n/a	n/a
34	MYC	chr1:150550925-150552803	K562	blood:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
35	TAF1	chr1:150550580-150552841	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:150546720-150552840	U87	brain:	n/a	n/a
37	POLR2A	chr1:150549151-150552871	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:150549148-150553226	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:150550118-150552940	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr1:150538740-150553070	K562	blood:	n/a	n/a
41	ELF1	chr1:150550622-150552888	MCF-7	breast:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
42	POLR2A	chr1:150550621-150552840	K562	blood:	n/a	n/a
43	POLR2A	chr1:150550218-150552925	H1-neurons	neurons:	n/a	n/a
44	STAT5A	chr1:150552291-150552851	GM12878	blood:	n/a	chr1:150552733-150552741
45	MAX	chr1:150550837-150552827	NB4	blood:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
46	GABPA	chr1:150550529-150552979	MCF-7	breast:	n/a	chr1:150552070-150552077
47	ESRRA	chr1:150551549-150552856	GM12878	blood:	n/a	n/a
48	MAX	chr1:150551903-150552817	GM12878	blood:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
49	POLR2A	chr1:150551815-150552804	HCT-116	colon:	n/a	n/a
50	POLR2A	chr1:150549299-150553187	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150549047..150553046-chr1:150599453..150603954,9	MCF-7	breast:
2	chr1:150547986..150553838-chr1:150598744..150606232,19	K562	blood:
3	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
4	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
5	chr1:150336951..150339274-chr1:150551327..150552882,2	K562	blood:
6	chr1:150547577..150553391-chr1:150562900..150573800,12	MCF-7	breast:
7	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
8	chr1:150550567..150552845-chr1:151042071..151045056,2	MCF-7	breast:
9	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
10	chr1:150550706..150553008-chr1:150788888..150791389,2	K562	blood:
11	chr1:150550605..150553329-chr1:151136705..151138908,2	K562	blood:
12	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
13	chr1:150551078..150552936-chr1:150667990..150671349,4	K562	blood:
14	chr1:150549744..150554023-chr1:150847608..150851573,5	K562	blood:
15	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
16	chr1:150550535..150554049-chr1:150976755..150981799,6	K562	blood:
17	chr1:150552057..150552895-chr7:139025854..139026496,2	Hela-S3	cervix:
18	chr1:150548124..150553459-chr1:150571951..150579395,15	MCF-7	breast:
19	chr1:150551378..150553300-chr1:150944488..150946159,2	MCF-7	breast:
20	chr1:150549378..150552816-chr1:151028901..151032004,3	K562	blood:

Variant related genes	Relation type
MCL1	TF binding region
ENSG00000269955	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000253047	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000164898	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143374	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv535157	chr1:150552692-150575941	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150548600-150553000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:150549000-150553000	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr1:150549200-150553000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:150550000-150553000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:150550800-150553000	Active TSS	GM12878-XiMat	blood
6	chr1:150551000-150553000	Active TSS	Colonic Mucosa	Colon
7	chr1:150551000-150553000	Active TSS	HSMM	muscle
8	chr1:150551200-150553000	Active TSS	Thymus	Thymus
9	chr1:150551400-150553000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:150551400-150553200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:150551400-150553200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:150551800-150553000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:150552000-150553800	Weak transcription	Gastric	stomach
14	chr1:150552400-150553000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:150552400-150553000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:150552400-150553000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:150552400-150553000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:150552400-150553000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr1:150552400-150553000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr1:150552400-150553000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr1:150552400-150553000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr1:150552400-150553000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:150552400-150553000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:150552400-150553000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:150552400-150553000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:150552400-150553000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr1:150552400-150553000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:150552400-150553000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:150552400-150553000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:150552400-150553000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:150552400-150553000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr1:150552400-150553000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:150552400-150553000	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr1:150552400-150553000	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr1:150552400-150553000	Flanking Active TSS	Fetal Kidney	kidney
36	chr1:150552400-150553000	Flanking Active TSS	Fetal Lung	lung
37	chr1:150552400-150553000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr1:150552400-150553000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr1:150552400-150553000	Flanking Active TSS	Dnd41	blood
40	chr1:150552400-150553000	Flanking Active TSS	HepG2	liver
41	chr1:150552400-150553000	Flanking Active TSS	HMEC	breast
42	chr1:150552400-150553000	Flanking Active TSS	HSMMtube	muscle
43	chr1:150552400-150553000	Flanking Active TSS	HUVEC	blood vessel
44	chr1:150552400-150553000	Flanking Active TSS	NH-A	brain
45	chr1:150552400-150553000	Flanking Active TSS	NHEK	skin
46	chr1:150552400-150553000	Flanking Active TSS	NHLF	lung
47	chr1:150552400-150553000	Flanking Active TSS	Osteobl	bone
48	chr1:150552400-150553200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:150552400-150553200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:150552400-150553200	Flanking Active TSS	Primary B cells from cord blood	blood

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