Variant report

Variant	rs587697626
Chromosome Location	chr1:150670266-150670267
allele	A/C
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	SP1	chr1:150669280-150670266	HCT-116	colon:	n/a	chr1:150669709-150669730 chr1:150669864-150669873 chr1:150669679-150669700 chr1:150669422-150669436 chr1:150669880-150669901
2	POLR2A	chr1:150669377-150670275	HepG2	liver:	n/a	n/a
3	SRF	chr1:150669337-150670374	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:150669420-150670356	PBDE	blood:	n/a	n/a
5	RFX5	chr1:150669337-150670302	Hela-S3	cervix:	n/a	chr1:150669882-150669891 chr1:150669644-150669660 chr1:150669753-150669761
6	IRF3	chr1:150669441-150670360	Hela-S3	cervix:	n/a	chr1:150669881-150669890
7	MTA3	chr1:150669319-150670373	GM12878	blood:	n/a	n/a
8	NFYA	chr1:150669169-150670299	K562	blood:	n/a	chr1:150669879-150669893 chr1:150669878-150669890 chr1:150669879-150669894 chr1:150669678-150669693 chr1:150669708-150669723 chr1:150669879-150669894 chr1:150669708-150669723 chr1:150669879-150669892 chr1:150669708-150669722
9	YY1	chr1:150669434-150670373	SK-N-SH_RA	brain:	n/a	chr1:150669862-150669873
10	KAP1	chr1:150669474-150670336	U2OS	brain:	n/a	n/a
11	RFX5	chr1:150668562-150670834	SK-N-SH	brain:	n/a	chr1:150669882-150669891 chr1:150669644-150669660 chr1:150669753-150669761
12	MYBL2	chr1:150669545-150670321	HepG2	liver:	n/a	n/a
13	CHD2	chr1:150669410-150670300	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr1:150669426-150670294	Hela-S3	cervix:	n/a	n/a
15	ELF1	chr1:150669261-150670339	MCF-7	breast:	n/a	n/a
16	REST	chr1:150669247-150670443	H1-neurons	neurons:	n/a	n/a
17	RFX5	chr1:150669328-150670428	IMR90	lung:	n/a	chr1:150669882-150669891 chr1:150669644-150669660 chr1:150669753-150669761
18	EP300	chr1:150669399-150670313	GM12878	blood:	n/a	n/a
19	NFYA	chr1:150669439-150670499	GM12878	blood:	n/a	chr1:150669879-150669893 chr1:150669878-150669890 chr1:150669879-150669894 chr1:150669678-150669693 chr1:150669708-150669723 chr1:150669879-150669894 chr1:150669708-150669723 chr1:150669879-150669892 chr1:150669708-150669722
20	MAX	chr1:150669348-150670299	MCF-7	breast:	n/a	n/a
21	SIN3AK20	chr1:150669345-150670495	MCF-7	breast:	n/a	n/a
22	MAFK	chr1:150669557-150670321	Hela-S3	cervix:	n/a	chr1:150669890-150669910
23	TEAD4	chr1:150669348-150670294	K562	blood:	n/a	n/a
24	RCOR1	chr1:150669408-150670307	K562	blood:	n/a	n/a
25	KAP1	chr1:150669468-150670485	HEK293	kidney:	n/a	n/a
26	NFYB	chr1:150669154-150670296	GM12878	blood:	n/a	chr1:150669879-150669893 chr1:150669878-150669890 chr1:150669879-150669894 chr1:150669678-150669693 chr1:150669708-150669723 chr1:150669879-150669894 chr1:150669708-150669723 chr1:150669879-150669892 chr1:150669708-150669722
27	NFYB	chr1:150669392-150670361	Hela-S3	cervix:	n/a	chr1:150669879-150669893 chr1:150669878-150669890 chr1:150669879-150669894 chr1:150669678-150669693 chr1:150669708-150669723 chr1:150669879-150669894 chr1:150669708-150669723 chr1:150669879-150669892 chr1:150669708-150669722
28	POLR2A	chr1:150669288-150670270	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr1:150669311-150670272	U87	brain:	n/a	n/a
30	MYC	chr1:150669436-150670277	K562	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..150670376-chr1:150778150..150781017,2	K562	blood:
6	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
7	chr1:150600649..150603708-chr1:150666872..150671304,5	K562	blood:
8	chr1:150669609..150671897-chr1:150782631..150785278,2	K562	blood:
9	chr1:150600957..150603301-chr1:150669104..150670860,3	MCF-7	breast:
10	chr1:150670046..150672281-chr1:150847927..150849937,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1042P	TF binding region
GOLPH3L	TF binding region
ENSG00000203804	Chromatin interaction
ENSG00000143387	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143437	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150667800-150670400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:150668000-150670400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:150668000-150670400	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:150668000-150670600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:150668000-150670600	Active TSS	K562	blood
6	chr1:150668200-150670400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:150668200-150670600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:150668400-150670400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:150668400-150670600	Active TSS	Ovary	ovary
10	chr1:150668600-150670400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:150668600-150670400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:150668600-150670400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:150668600-150670400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:150668600-150670400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:150668600-150670400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:150668600-150670400	Active TSS	Brain Germinal Matrix	brain
17	chr1:150668600-150670400	Active TSS	Fetal Muscle Trunk	muscle
18	chr1:150668600-150670400	Active TSS	HSMM	muscle
19	chr1:150668600-150670600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:150668600-150670600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:150668600-150670600	Active TSS	Right Atrium	heart
22	chr1:150668800-150670400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:150668800-150670400	Active TSS	Fetal Brain Female	brain
24	chr1:150668800-150670400	Active TSS	Fetal Lung	lung
25	chr1:150668800-150670400	Active TSS	Psoas Muscle	Psoas
26	chr1:150668800-150670400	Active TSS	HepG2	liver
27	chr1:150668800-150670600	Active TSS	Brain Angular Gyrus	brain
28	chr1:150668800-150670600	Active TSS	Right Ventricle	heart
29	chr1:150668800-150670600	Active TSS	Stomach Smooth Muscle	stomach
30	chr1:150668800-150670600	Active TSS	NHDF-Ad	bronchial
31	chr1:150669000-150670400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:150669000-150670400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:150669000-150670400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:150669000-150670400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:150669000-150670400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:150669000-150670400	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:150669000-150670400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:150669000-150670400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:150669000-150670400	Active TSS	Aorta	Aorta
40	chr1:150669000-150670400	Active TSS	Brain Anterior Caudate	brain
41	chr1:150669000-150670400	Active TSS	Fetal Brain Male	brain
42	chr1:150669000-150670400	Active TSS	NHLF	lung
43	chr1:150669000-150670600	Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:150669000-150670600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:150669000-150670600	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:150669000-150670600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:150669200-150670400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:150669200-150670400	Active TSS	Brain Hippocampus Middle	brain
49	chr1:150669200-150670400	Active TSS	Left Ventricle	heart
50	chr1:150669400-150670400	Active TSS	Pancreas	Pancrea

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