Variant report

Variant	rs537794866
Chromosome Location	chr1:76189937-76189938
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	REST	chr1:76189652-76190073	K562	blood:	n/a	n/a
2	CHD2	chr1:76189638-76190788	HepG2	liver:	n/a	n/a
3	MAZ	chr1:76189639-76190853	GM12878	blood:	n/a	chr1:76190102-76190112
4	POLR2A	chr1:76189138-76190794	PANC-1	pancreas:	n/a	n/a
5	USF2	chr1:76189879-76190006	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:76189802-76190718	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:76188834-76190820	K562	blood:	n/a	n/a
8	BHLHE40	chr1:76189589-76190874	K562	blood:	n/a	n/a
9	PML	chr1:76189517-76190978	GM12878	blood:	n/a	n/a
10	MAX	chr1:76189569-76190837	K562	blood:	n/a	chr1:76190102-76190112
11	POU2F2	chr1:76189845-76190741	GM12891	blood:	n/a	chr1:76190520-76190532 chr1:76190096-76190108
12	POLR2A	chr1:76189753-76190840	HepG2	liver:	n/a	n/a
13	EGR1	chr1:76189725-76190841	HCT-116	colon:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
14	CEBPB	chr1:76189564-76190590	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr1:76189384-76190821	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:76189561-76190902	HepG2	liver:	n/a	n/a
17	YY1	chr1:76189745-76190776	SK-N-SH	brain:	n/a	chr1:76190084-76190093
18	POLR2A	chr1:76189605-76190991	GM18526	blood:	n/a	n/a
19	TAF1	chr1:76189804-76190041	Hela-S3	cervix:	n/a	n/a
20	PML	chr1:76189595-76190718	K562	blood:	n/a	n/a
21	TCF12	chr1:76189444-76190761	A549	lung:	n/a	chr1:76190582-76190589
22	HDAC2	chr1:76189755-76190673	HepG2	liver:	n/a	n/a
23	CREB1	chr1:76189883-76190650	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr1:76189639-76190969	ECC-1	luminal epithelium:	n/a	n/a
25	CCNT2	chr1:76189838-76190765	K562	blood:	n/a	chr1:76190097-76190106
26	ELF1	chr1:76189910-76190737	GM12878	blood:	n/a	n/a
27	TAF1	chr1:76189628-76190771	ECC-1	luminal epithelium:	n/a	n/a
28	RCOR1	chr1:76189573-76190883	Hela-S3	cervix:	n/a	n/a
29	NFIC	chr1:76189591-76189939	HepG2	liver:	n/a	n/a
30	EGR1	chr1:76189848-76190699	K562	blood:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
31	EP300	chr1:76189814-76190608	HepG2	liver:	n/a	chr1:76190409-76190422
32	MYC	chr1:76188822-76190918	K562	blood:	n/a	chr1:76190102-76190112
33	POLR2A	chr1:76189565-76190861	GM12892	blood:	n/a	n/a
34	RELA	chr1:76189855-76190683	GM19099	blood:	n/a	n/a
35	EGR1	chr1:76189887-76190528	GM12878	blood:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
36	RUNX3	chr1:76189638-76190865	GM12878	blood:	n/a	n/a
37	CEBPD	chr1:76189856-76190047	HepG2	liver:	n/a	n/a
38	TBP	chr1:76189244-76190760	GM12878	blood:	n/a	n/a
39	MAX	chr1:76189578-76190813	SK-N-SH	brain:	n/a	chr1:76190102-76190112
40	ELF1	chr1:76189772-76190851	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:76189169-76190755	PANC-1	pancreas:	n/a	n/a
42	FOXM1	chr1:76189782-76190735	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:76189441-76190931	K562	blood:	n/a	n/a
44	E2F6	chr1:76189838-76190617	K562	blood:	n/a	chr1:76189985-76189996 chr1:76190281-76190291 chr1:76190084-76190093 chr1:76190280-76190290
45	TBP	chr1:76189666-76190734	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:76189515-76190831	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:76189730-76190895	GM12891	blood:	n/a	n/a
48	POLR2A	chr1:76189592-76190841	PBDE	blood:	n/a	n/a
49	POLR2A	chr1:76189485-76191195	GM18505	blood:	n/a	n/a
50	POLR2A	chr1:76189751-76190736	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:76189501..76190437-chr1:76251743..76252335,2	NB4	blood:
2	chr1:76189532..76190105-chr1:76251441..76252104,2	MCF-7	breast:
3	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
4	chr1:76188658..76192178-chr1:76249968..76253902,5	MCF-7	breast:
5	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
6	chr1:76189902..76190712-chr1:144533703..144534665,2	Hela-S3	cervix:
7	chr1:76189767..76190677-chr19:2475779..2476409,2	Hela-S3	cervix:
8	chr1:76189545..76190479-chr8:125486401..125487035,2	Hela-S3	cervix:
9	chr1:76189917..76190733-chr20:34329839..34330374,2	Hela-S3	cervix:
10	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
11	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:
12	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
13	chr1:76189700..76190212-chr9:130565796..130566746,2	Hela-S3	cervix:
14	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:

Variant related genes	Relation type
ENSG00000178193	TF binding region
ACADM	TF binding region
ENSG00000057468	Chromatin interaction
ENSG00000131051	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000136877	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000181227	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv932955	chr1:76189923-76190791	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76189000-76191200	Active TSS	Brain Hippocampus Middle	brain
2	chr1:76189000-76191400	Active TSS	A549	lung
3	chr1:76189000-76191600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76189000-76191600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr1:76189200-76190000	Flanking Active TSS	HUVEC	blood vessel
6	chr1:76189200-76191000	Active TSS	Fetal Brain Male	brain
7	chr1:76189200-76191400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:76189200-76191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:76189200-76191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:76189200-76191600	Active TSS	Brain Anterior Caudate	brain
11	chr1:76189200-76191800	Active TSS	Esophagus	oesophagus
12	chr1:76189200-76191800	Active TSS	HSMM	muscle
13	chr1:76189200-76192000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr1:76189200-76192400	Active TSS	HMEC	breast
15	chr1:76189200-76192400	Active TSS	NHDF-Ad	bronchial
16	chr1:76189400-76190000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:76189400-76190000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:76189400-76190000	Active TSS	Brain Germinal Matrix	brain
19	chr1:76189400-76190000	Active TSS	Right Atrium	heart
20	chr1:76189400-76190000	Flanking Active TSS	NH-A	brain
21	chr1:76189400-76190800	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:76189400-76191200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:76189400-76191200	Active TSS	Fetal Heart	heart
24	chr1:76189400-76191200	Active TSS	Fetal Kidney	kidney
25	chr1:76189400-76191400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr1:76189400-76191400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:76189400-76191400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:76189400-76191400	Active TSS	Aorta	Aorta
29	chr1:76189400-76191400	Active TSS	Fetal Muscle Trunk	muscle
30	chr1:76189400-76191400	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:76189400-76191600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:76189400-76191600	Active TSS	Fetal Muscle Leg	muscle
33	chr1:76189400-76191600	Active TSS	Fetal Thymus	thymus
34	chr1:76189400-76191600	Active TSS	HSMMtube	muscle
35	chr1:76189400-76191600	Active TSS	Osteobl	bone
36	chr1:76189400-76191800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:76189400-76191800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:76189400-76191800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:76189400-76191800	Active TSS	Fetal Stomach	stomach
40	chr1:76189400-76191800	Active TSS	Psoas Muscle	Psoas
41	chr1:76189400-76191800	Active TSS	Right Ventricle	heart
42	chr1:76189400-76192000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:76189400-76192000	Active TSS	HepG2	liver
44	chr1:76189400-76192000	Active TSS	NHLF	lung
45	chr1:76189400-76192200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:76189400-76192200	Active TSS	Ovary	ovary
47	chr1:76189400-76192400	Active TSS	Colonic Mucosa	Colon
48	chr1:76189600-76190000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:76189600-76190000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr1:76189600-76190000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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