Variant report

Variant	rs73083807
Chromosome Location	chr1:197872001-197872002
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	MYC	chr1:197871184-197872603	K562	blood:	n/a	n/a
2	ELF1	chr1:197871543-197872309	GM12878	blood:	n/a	chr1:197871768-197871777
3	POLR2A	chr1:197871358-197872435	HL-60	blood:	n/a	n/a
4	RCOR1	chr1:197871234-197872386	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:197871493-197872343	GM18951	blood:	n/a	n/a
6	POLR2A	chr1:197871341-197872503	MCF-7	breast:	n/a	n/a
7	HDAC2	chr1:197871501-197872424	HepG2	liver:	n/a	n/a
8	ELF1	chr1:197871898-197872488	K562	blood:	n/a	n/a
9	POLR2A	chr1:197871294-197872513	MCF-7	breast:	n/a	n/a
10	BHLHE40	chr1:197871570-197872270	HepG2	liver:	n/a	chr1:197871740-197871756 chr1:197871588-197871604
11	NFIC	chr1:197871526-197872360	HepG2	liver:	n/a	n/a
12	MAX	chr1:197871535-197872332	K562	blood:	n/a	n/a
13	YY1	chr1:197871279-197872291	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr1:197871352-197872396	K562	blood:	n/a	n/a
15	RAD21	chr1:197871555-197872297	H1-hESC	embryonic stem cell:	n/a	chr1:197871632-197871646 chr1:197871628-197871647 chr1:197871631-197871645
16	CTCF	chr1:197871940-197872090	HEEpiC	esophagus:	n/a	n/a
17	REST	chr1:197871640-197872231	ECC-1	luminal epithelium:	n/a	n/a
18	ELF1	chr1:197871534-197872343	K562	blood:	n/a	chr1:197871768-197871777
19	POLR2A	chr1:197871398-197872403	ECC-1	luminal epithelium:	n/a	n/a
20	TBP	chr1:197871494-197872263	HepG2	liver:	n/a	n/a
21	TAF1	chr1:197871632-197872214	PFSK-1	brain:	n/a	n/a
22	CHD2	chr1:197871120-197872613	Hela-S3	cervix:	n/a	n/a
23	SMARCB1	chr1:197871382-197872541	Hela-S3	cervix:	n/a	n/a
24	YY1	chr1:197871440-197872110	ECC-1	luminal epithelium:	n/a	n/a
25	E2F6	chr1:197871822-197872404	A549	lung:	n/a	chr1:197872222-197872233 chr1:197872226-197872233 chr1:197872226-197872233 chr1:197872221-197872232 chr1:197872222-197872230 chr1:197872222-197872230 chr1:197872223-197872237 chr1:197872221-197872231 chr1:197872218-197872232 chr1:197872226-197872233
26	TAF1	chr1:197871404-197872493	A549	lung:	n/a	n/a
27	ZMIZ1	chr1:197871514-197872384	K562	blood:	n/a	n/a
28	MYC	chr1:197871490-197872349	MCF-7	breast:	n/a	n/a
29	SP1	chr1:197871516-197872280	A549	lung:	n/a	n/a
30	RCOR1	chr1:197871274-197872785	K562	blood:	n/a	n/a
31	BCL3	chr1:197871696-197872451	A549	lung:	n/a	n/a
32	POLR2A	chr1:197871320-197872512	U87	brain:	n/a	n/a
33	TCF7L2	chr1:197871293-197872378	HCT-116	colon:	n/a	n/a
34	MTA3	chr1:197871629-197872053	GM12878	blood:	n/a	n/a
35	TCF12	chr1:197871567-197872114	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:197871460-197872431	GM12892	blood:	n/a	n/a
37	POLR2A	chr1:197871442-197872344	HCT-116	colon:	n/a	n/a
38	RAD21	chr1:197871385-197872463	IMR90	lung:	n/a	chr1:197871632-197871646 chr1:197871628-197871647 chr1:197871631-197871645
39	POLR2A	chr1:197871278-197872555	GM18505	blood:	n/a	n/a
40	TBL1XR1	chr1:197871826-197872449	GM12878	blood:	n/a	n/a
41	REST	chr1:197871442-197872055	SK-N-SH	brain:	n/a	n/a
42	YY1	chr1:197871387-197872357	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr1:197871325-197872579	HCT-116	colon:	n/a	n/a
44	POLR2A	chr1:197871207-197872494	K562	blood:	n/a	n/a
45	CTCF	chr1:197871893-197872122	Spleen_OC	spleen:	n/a	n/a
46	YY1	chr1:197871500-197872236	HCT-116	colon:	n/a	n/a
47	POLR2A	chr1:197871524-197872163	GM12891	blood:	n/a	n/a
48	TCF12	chr1:197871544-197872503	ECC-1	luminal epithelium:	n/a	n/a
49	MBD4	chr1:197871451-197872423	HepG2	liver:	n/a	n/a
50	TAF1	chr1:197871320-197872470	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:197871380..197872115-chr21:30396777..30397397,2	Hela-S3	cervix:
2	chr1:197871305..197872284-chr19:13263884..13265085,3	Hela-S3	cervix:
3	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
4	chr1:197869855..197872200-chr1:198125548..198128117,2	MCF-7	breast:
5	chr1:197871644..197872381-chr12:52445098..52445658,2	Hela-S3	cervix:
6	chr1:197871528..197872350-chr3:107243706..107244283,2	Hela-S3	cervix:
7	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:
8	chr1:197870101..197873220-chr1:197881150..197886265,4	MCF-7	breast:
9	chr1:197868383..197873929-chr1:197879774..197886951,11	K562	blood:
10	chr1:197871185..197872066-chr6:27114432..27115278,2	Hela-S3	cervix:
11	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:

Variant related genes	Relation type
C1orf53	TF binding region
ENSG00000143355	Chromatin interaction
ENSG00000156256	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000151414	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000213047	Chromatin interaction
ENSG00000273254	Chromatin interaction
ENSG00000114439	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58497973	0.83[AMR][1000 genomes]
rs6692087	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv1004130	chr1:197822757-197879728	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197870800-197872800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:197871000-197872200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:197871000-197872200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:197871000-197872200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:197871000-197872200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:197871000-197872400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:197871000-197872400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:197871000-197872400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:197871000-197872400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:197871000-197872400	Active TSS	HSMMtube	muscle
11	chr1:197871000-197872600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:197871000-197872600	Active TSS	Psoas Muscle	Psoas
13	chr1:197871000-197872600	Active TSS	Right Atrium	heart
14	chr1:197871000-197872600	Active TSS	NHDF-Ad	bronchial
15	chr1:197871200-197872200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr1:197871200-197872200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:197871200-197872200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:197871200-197872200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:197871200-197872200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:197871200-197872200	Active TSS	HSMM	muscle
21	chr1:197871200-197872400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:197871200-197872400	Active TSS	Aorta	Aorta
23	chr1:197871200-197872400	Active TSS	Esophagus	oesophagus
24	chr1:197871200-197872400	Active TSS	Pancreas	Pancrea
25	chr1:197871200-197872600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:197871200-197872600	Active TSS	Colonic Mucosa	Colon
27	chr1:197871200-197872600	Active TSS	Left Ventricle	heart
28	chr1:197871200-197872600	Active TSS	Ovary	ovary
29	chr1:197871200-197872600	Active TSS	Right Ventricle	heart
30	chr1:197871200-197872600	Active TSS	GM12878-XiMat	blood
31	chr1:197871200-197872800	Active TSS	Brain Substantia Nigra	brain
32	chr1:197871200-197872800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:197871400-197872200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:197871400-197872200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:197871400-197872200	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:197871400-197872200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:197871400-197872200	Active TSS	Liver	Liver
38	chr1:197871400-197872200	Active TSS	Fetal Brain Male	brain
39	chr1:197871400-197872200	Active TSS	Fetal Kidney	kidney
40	chr1:197871400-197872200	Active TSS	Fetal Muscle Leg	muscle
41	chr1:197871400-197872200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:197871400-197872200	Active TSS	Stomach Mucosa	stomach
43	chr1:197871400-197872200	Active TSS	Dnd41	blood
44	chr1:197871400-197872200	Active TSS	Hela-S3	cervix
45	chr1:197871400-197872200	Active TSS	NHEK	skin
46	chr1:197871400-197872200	Active TSS	Osteobl	bone
47	chr1:197871400-197872400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:197871400-197872400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:197871400-197872400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:197871400-197872400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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