Variant report

Variant	rs587661013
Chromosome Location	chr1:150669972-150669973
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	chr1:150669410-150670126	Hela-S3	cervix:	n/a	n/a
2	MAX	chr1:150669442-150670159	A549	lung:	n/a	n/a
3	POLR2A	chr1:150669465-150670125	GM12878	blood:	n/a	n/a
4	RFX5	chr1:150669447-150670088	GM12878	blood:	n/a	chr1:150669882-150669891 chr1:150669644-150669660 chr1:150669753-150669761
5	FOS	chr1:150669529-150670038	Hela-S3	cervix:	n/a	chr1:150669883-150669892 chr1:150669712-150669721 chr1:150669682-150669691
6	BRCA1	chr1:150669458-150670063	Hela-S3	cervix:	n/a	chr1:150669751-150669758
7	POLR2A	chr1:150669408-150670174	K562	blood:	n/a	n/a
8	CTCF	chr1:150669900-150670050	HA-sp	spinal cord:	n/a	n/a
9	MAFK	chr1:150669616-150670015	HepG2	liver:	n/a	chr1:150669890-150669910
10	ELF1	chr1:150669333-150669988	K562	blood:	n/a	n/a
11	POLR2A	chr1:150669350-150670200	SK-N-SH	brain:	n/a	n/a
12	USF2	chr1:150669399-150670085	Hela-S3	cervix:	n/a	n/a
13	FOS	chr1:150669528-150670073	K562	blood:	n/a	chr1:150669883-150669892 chr1:150669712-150669721 chr1:150669682-150669691
14	E2F4	chr1:150668646-150670023	MCF10A-Er-Src	breast:	n/a	chr1:150669881-150669890
15	POLR2A	chr1:150668529-150670192	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPZ	chr1:150669516-150670046	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:150669390-150670125	HCT-116	colon:	n/a	n/a
18	SP1	chr1:150669280-150670266	HCT-116	colon:	n/a	chr1:150669709-150669730 chr1:150669864-150669873 chr1:150669679-150669700 chr1:150669422-150669436 chr1:150669880-150669901
19	POLR2A	chr1:150669377-150670275	HepG2	liver:	n/a	n/a
20	TAF1	chr1:150669801-150670055	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:150669412-150670152	GM12878	blood:	n/a	n/a
22	SRF	chr1:150669337-150670374	MCF-7	breast:	n/a	n/a
23	CBX3	chr1:150669327-150670139	K562	blood:	n/a	n/a
24	YY1	chr1:150669405-150669982	GM12878	blood:	n/a	chr1:150669862-150669873
25	EP300	chr1:150669472-150669977	SK-N-SH_RA	brain:	n/a	n/a
26	FOXM1	chr1:150669285-150670067	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:150669423-150670235	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr1:150669431-150670153	NB4	blood:	n/a	n/a
29	TCF7L2	chr1:150669668-150669972	PANC-1	pancreas:	n/a	n/a
30	STAT3	chr1:150669759-150670125	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr1:150669420-150670356	PBDE	blood:	n/a	n/a
32	EP300	chr1:150669483-150670065	K562	blood:	n/a	n/a
33	MXI1	chr1:150669511-150670065	HepG2	liver:	n/a	n/a
34	FOXA2	chr1:150669653-150670052	HepG2	liver:	n/a	n/a
35	SRF	chr1:150669467-150670082	ECC-1	luminal epithelium:	n/a	n/a
36	ARID3A	chr1:150669458-150670246	K562	blood:	n/a	n/a
37	NFE2	chr1:150669972-150669976	GM12878	blood:	n/a	n/a
38	RFX5	chr1:150669427-150669998	HepG2	liver:	n/a	chr1:150669882-150669891 chr1:150669644-150669660 chr1:150669753-150669761
39	MAX	chr1:150669426-150670006	SK-N-SH	brain:	n/a	n/a
40	SP1	chr1:150669360-150670141	A549	lung:	n/a	chr1:150669709-150669730 chr1:150669864-150669873 chr1:150669679-150669700 chr1:150669422-150669436 chr1:150669880-150669901
41	MXI1	chr1:150669459-150670003	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP2	chr1:150669513-150669989	K562	blood:	n/a	chr1:150669801-150669824
43	POLR2A	chr1:150669966-150669981	HUVEC	blood vessel:	n/a	n/a
44	RFX5	chr1:150669337-150670302	Hela-S3	cervix:	n/a	chr1:150669882-150669891 chr1:150669644-150669660 chr1:150669753-150669761
45	CHD2	chr1:150669452-150670078	K562	blood:	n/a	n/a
46	POLR2A	chr1:150669261-150670160	Hela-S3	cervix:	n/a	n/a
47	IRF3	chr1:150669441-150670360	Hela-S3	cervix:	n/a	chr1:150669881-150669890
48	POLR2A	chr1:150669924-150669989	K562	blood:	n/a	n/a
49	SIN3A	chr1:150669418-150670090	GM12878	blood:	n/a	n/a
50	MTA3	chr1:150669319-150670373	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150551078..150552936-chr1:150667990..150671349,4	K562	blood:
2	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
3	chr1:150533613..150535919-chr1:150668275..150670992,2	MCF-7	breast:
4	chr1:150600620..150604710-chr1:150667156..150670884,6	K562	blood:
5	chr1:150668066..150670256-chr1:150778150..150780706,2	K562	blood:
6	chr1:150668066..150670376-chr1:150778150..150781017,2	K562	blood:
7	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
8	chr1:150600649..150603708-chr1:150666872..150671304,5	K562	blood:
9	chr1:150669609..150671897-chr1:150782631..150785278,2	K562	blood:
10	chr1:150600957..150603301-chr1:150669104..150670860,3	MCF-7	breast:

Variant related genes	Relation type
GOLPH3L	TF binding region
RNU6-1042P	TF binding region
ENSG00000203804	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143387	Chromatin interaction
ENSG00000200175	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	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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1014638	chr1:150647987-150679033	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv437158	chr1:150652202-150683512	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv520425	chr1:150669952-150673684	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150667600-150670200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:150667600-150670200	Active TSS	GM12878-XiMat	blood
3	chr1:150667800-150670400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:150668000-150670200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:150668000-150670200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:150668000-150670400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:150668000-150670400	Active TSS	Duodenum Mucosa	Duodenum
8	chr1:150668000-150670600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:150668000-150670600	Active TSS	K562	blood
10	chr1:150668200-150670000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:150668200-150670000	Active TSS	NHEK	skin
12	chr1:150668200-150670200	Active TSS	Colonic Mucosa	Colon
13	chr1:150668200-150670400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:150668200-150670600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:150668400-150670200	Active TSS	Fetal Intestine Large	intestine
16	chr1:150668400-150670200	Active TSS	Fetal Stomach	stomach
17	chr1:150668400-150670400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:150668400-150670600	Active TSS	Ovary	ovary
19	chr1:150668600-150670000	Active TSS	HSMMtube	muscle
20	chr1:150668600-150670200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:150668600-150670200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:150668600-150670200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr1:150668600-150670200	Active TSS	Stomach Mucosa	stomach
24	chr1:150668600-150670400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:150668600-150670400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:150668600-150670400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:150668600-150670400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:150668600-150670400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:150668600-150670400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:150668600-150670400	Active TSS	Brain Germinal Matrix	brain
31	chr1:150668600-150670400	Active TSS	Fetal Muscle Trunk	muscle
32	chr1:150668600-150670400	Active TSS	HSMM	muscle
33	chr1:150668600-150670600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:150668600-150670600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:150668600-150670600	Active TSS	Right Atrium	heart
36	chr1:150668800-150670000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:150668800-150670000	Active TSS	HMEC	breast
38	chr1:150668800-150670200	Active TSS	Fetal Intestine Small	intestine
39	chr1:150668800-150670200	Active TSS	Fetal Muscle Leg	muscle
40	chr1:150668800-150670200	Active TSS	Fetal Thymus	thymus
41	chr1:150668800-150670200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:150668800-150670200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr1:150668800-150670200	Active TSS	A549	lung
44	chr1:150668800-150670200	Active TSS	NH-A	brain
45	chr1:150668800-150670400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:150668800-150670400	Active TSS	Fetal Brain Female	brain
47	chr1:150668800-150670400	Active TSS	Fetal Lung	lung
48	chr1:150668800-150670400	Active TSS	Psoas Muscle	Psoas
49	chr1:150668800-150670400	Active TSS	HepG2	liver
50	chr1:150668800-150670600	Active TSS	Brain Angular Gyrus	brain

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