Variant report

Variant	rs61124994
Chromosome Location	chr1:76190331-76190332
allele	C/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	CHD2	chr1:76189638-76190788	HepG2	liver:	n/a	n/a
2	MAZ	chr1:76189639-76190853	GM12878	blood:	n/a	chr1:76190102-76190112
3	POLR2A	chr1:76189138-76190794	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:76189802-76190718	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:76188834-76190820	K562	blood:	n/a	n/a
6	RFX5	chr1:76190317-76190629	HepG2	liver:	n/a	n/a
7	BHLHE40	chr1:76189589-76190874	K562	blood:	n/a	n/a
8	ELK1	chr1:76190280-76190670	K562	blood:	n/a	n/a
9	TAF1	chr1:76190174-76190807	Hela-S3	cervix:	n/a	n/a
10	PML	chr1:76189517-76190978	GM12878	blood:	n/a	n/a
11	MAX	chr1:76189569-76190837	K562	blood:	n/a	chr1:76190102-76190112
12	POU2F2	chr1:76189845-76190741	GM12891	blood:	n/a	chr1:76190520-76190532 chr1:76190096-76190108
13	POLR2A	chr1:76189753-76190840	HepG2	liver:	n/a	n/a
14	EGR1	chr1:76189725-76190841	HCT-116	colon:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
15	CEBPB	chr1:76189564-76190590	Hela-S3	cervix:	n/a	n/a
16	RFX5	chr1:76189384-76190821	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:76189561-76190902	HepG2	liver:	n/a	n/a
18	YY1	chr1:76189745-76190776	SK-N-SH	brain:	n/a	chr1:76190084-76190093
19	BRCA1	chr1:76190213-76190351	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:76189605-76190991	GM18526	blood:	n/a	n/a
21	PML	chr1:76189595-76190718	K562	blood:	n/a	n/a
22	TCF12	chr1:76189444-76190761	A549	lung:	n/a	chr1:76190582-76190589
23	HDAC2	chr1:76189755-76190673	HepG2	liver:	n/a	n/a
24	CREB1	chr1:76189883-76190650	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr1:76190289-76190654	NT2-D1	testis:	n/a	n/a
26	REST	chr1:76190086-76190732	PFSK-1	brain:	n/a	chr1:76190284-76190297
27	TAF1	chr1:76189639-76190969	ECC-1	luminal epithelium:	n/a	n/a
28	CCNT2	chr1:76189838-76190765	K562	blood:	n/a	chr1:76190097-76190106
29	ELF1	chr1:76189910-76190737	GM12878	blood:	n/a	n/a
30	HDAC2	chr1:76190049-76190611	K562	blood:	n/a	n/a
31	TAF1	chr1:76189628-76190771	ECC-1	luminal epithelium:	n/a	n/a
32	RCOR1	chr1:76189573-76190883	Hela-S3	cervix:	n/a	n/a
33	EGR1	chr1:76189848-76190699	K562	blood:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
34	EP300	chr1:76189814-76190608	HepG2	liver:	n/a	chr1:76190409-76190422
35	HEY1	chr1:76190085-76190827	HepG2	liver:	n/a	n/a
36	MYC	chr1:76188822-76190918	K562	blood:	n/a	chr1:76190102-76190112
37	POLR2A	chr1:76189565-76190861	GM12892	blood:	n/a	n/a
38	RELA	chr1:76189855-76190683	GM19099	blood:	n/a	n/a
39	EGR1	chr1:76189887-76190528	GM12878	blood:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
40	RUNX3	chr1:76189638-76190865	GM12878	blood:	n/a	n/a
41	TBP	chr1:76189244-76190760	GM12878	blood:	n/a	n/a
42	MAX	chr1:76189578-76190813	SK-N-SH	brain:	n/a	chr1:76190102-76190112
43	RAD21	chr1:76190131-76190642	H1-hESC	embryonic stem cell:	n/a	chr1:76190559-76190569 chr1:76190377-76190390 chr1:76190510-76190523
44	CTCF	chr1:76190233-76190355	GM12891	blood:	n/a	n/a
45	ELF1	chr1:76189772-76190851	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:76189169-76190755	PANC-1	pancreas:	n/a	n/a
47	FOXM1	chr1:76189782-76190735	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:76189441-76190931	K562	blood:	n/a	n/a
49	E2F6	chr1:76189838-76190617	K562	blood:	n/a	chr1:76189985-76189996 chr1:76190281-76190291 chr1:76190084-76190093 chr1:76190280-76190290
50	TBP	chr1:76189666-76190734	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:76189501..76190437-chr1:76251743..76252335,2	NB4	blood:
2	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
3	chr1:76188658..76192178-chr1:76249968..76253902,5	MCF-7	breast:
4	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
5	chr1:76189902..76190712-chr1:144533703..144534665,2	Hela-S3	cervix:
6	chr1:76190185..76192141-chr1:76251658..76253401,2	MCF-7	breast:
7	chr1:76190052..76193339-chr1:76196508..76198872,3	K562	blood:
8	chr1:76189767..76190677-chr19:2475779..2476409,2	Hela-S3	cervix:
9	chr1:76189545..76190479-chr8:125486401..125487035,2	Hela-S3	cervix:
10	chr1:76189917..76190733-chr20:34329839..34330374,2	Hela-S3	cervix:
11	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
12	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:
13	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
14	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:

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

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10465725	0.84[EUR][1000 genomes]
rs1146594	0.93[EUR][1000 genomes]
rs12074938	0.84[EUR][1000 genomes]
rs12079065	0.84[EUR][1000 genomes]
rs12079211	0.84[EUR][1000 genomes]
rs12081631	0.84[EUR][1000 genomes]
rs13376397	0.84[EUR][1000 genomes]
rs17097567	0.84[EUR][1000 genomes]
rs17097710	0.84[EUR][1000 genomes]
rs55781251	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55977041	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56036152	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56069207	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56322662	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56364153	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57443433	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5745309	0.84[EUR][1000 genomes]
rs5745418	0.84[EUR][1000 genomes]
rs57798497	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58125729	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59723961	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59932454	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60219146	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60630670	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60871503	0.90[AMR][1000 genomes]
rs61612438	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74088936	0.90[AMR][1000 genomes]
rs74088996	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74088997	0.90[AMR][1000 genomes]
rs74088999	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74090705	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74090716	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090717	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090720	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090724	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090726	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090729	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090734	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090737	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74090744	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7512465	0.84[EUR][1000 genomes]
rs7544911	1.00[EUR][1000 genomes]
rs9970840	0.84[EUR][1000 genomes]

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	chr1:76189200-76191000	Active TSS	Fetal Brain Male	brain
6	chr1:76189200-76191400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:76189200-76191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:76189200-76191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:76189200-76191600	Active TSS	Brain Anterior Caudate	brain
10	chr1:76189200-76191800	Active TSS	Esophagus	oesophagus
11	chr1:76189200-76191800	Active TSS	HSMM	muscle
12	chr1:76189200-76192000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:76189200-76192400	Active TSS	HMEC	breast
14	chr1:76189200-76192400	Active TSS	NHDF-Ad	bronchial
15	chr1:76189400-76190800	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:76189400-76191200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:76189400-76191200	Active TSS	Fetal Heart	heart
18	chr1:76189400-76191200	Active TSS	Fetal Kidney	kidney
19	chr1:76189400-76191400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:76189400-76191400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr1:76189400-76191400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:76189400-76191400	Active TSS	Aorta	Aorta
23	chr1:76189400-76191400	Active TSS	Fetal Muscle Trunk	muscle
24	chr1:76189400-76191400	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:76189400-76191600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:76189400-76191600	Active TSS	Fetal Muscle Leg	muscle
27	chr1:76189400-76191600	Active TSS	Fetal Thymus	thymus
28	chr1:76189400-76191600	Active TSS	HSMMtube	muscle
29	chr1:76189400-76191600	Active TSS	Osteobl	bone
30	chr1:76189400-76191800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:76189400-76191800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:76189400-76191800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:76189400-76191800	Active TSS	Fetal Stomach	stomach
34	chr1:76189400-76191800	Active TSS	Psoas Muscle	Psoas
35	chr1:76189400-76191800	Active TSS	Right Ventricle	heart
36	chr1:76189400-76192000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:76189400-76192000	Active TSS	HepG2	liver
38	chr1:76189400-76192000	Active TSS	NHLF	lung
39	chr1:76189400-76192200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:76189400-76192200	Active TSS	Ovary	ovary
41	chr1:76189400-76192400	Active TSS	Colonic Mucosa	Colon
42	chr1:76189600-76190800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:76189600-76190800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:76189600-76190800	Active TSS	Gastric	stomach
45	chr1:76189600-76190800	Active TSS	Spleen	Spleen
46	chr1:76189600-76191000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:76189600-76191000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:76189600-76191000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:76189600-76191000	Active TSS	Lung	lung
50	chr1:76189600-76191200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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