Variant report

Variant	rs74134506
Chromosome Location	chr1:197871362-197871363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

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	POLR2A	chr1:197871358-197872435	HL-60	blood:	n/a	n/a
3	RCOR1	chr1:197871234-197872386	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:197871341-197872503	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:197871294-197872513	MCF-7	breast:	n/a	n/a
6	YY1	chr1:197871279-197872291	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr1:197871352-197872396	K562	blood:	n/a	n/a
8	CHD2	chr1:197871120-197872613	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr1:197871274-197872785	K562	blood:	n/a	n/a
10	POLR2A	chr1:197871320-197872512	U87	brain:	n/a	n/a
11	TCF7L2	chr1:197871293-197872378	HCT-116	colon:	n/a	n/a
12	POLR2A	chr1:197871278-197872555	GM18505	blood:	n/a	n/a
13	MAX	chr1:197871325-197872579	HCT-116	colon:	n/a	n/a
14	POLR2A	chr1:197871207-197872494	K562	blood:	n/a	n/a
15	TAF1	chr1:197871320-197872470	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr1:197871282-197872512	A549	lung:	n/a	n/a
17	POLR2A	chr1:197871309-197872577	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr1:197871353-197872714	K562	blood:	n/a	n/a
19	UBTF	chr1:197870987-197872712	K562	blood:	n/a	n/a
20	CHD2	chr1:197871349-197872416	HepG2	liver:	n/a	n/a
21	MAFK	chr1:197871288-197872691	K562	blood:	n/a	n/a
22	ZNF263	chr1:197871361-197872347	HEK293-T-REx	kidney:	n/a	n/a
23	JUND	chr1:197871140-197872544	K562	blood:	n/a	chr1:197872364-197872373
24	POLR2A	chr1:197870895-197872589	Raji	blood:	n/a	n/a
25	REST	chr1:197871055-197872665	H1-neurons	neurons:	n/a	chr1:197871181-197871199 chr1:197871180-197871194
26	TAF1	chr1:197871346-197872390	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr1:197871220-197872581	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr1:197870139-197873102	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr1:197870323-197871429	K562	blood:	n/a	n/a
30	POLR2A	chr1:197870888-197872376	Hela-S3	cervix:	n/a	n/a
31	MAX	chr1:197871098-197872660	NB4	blood:	n/a	n/a
32	POLR2A	chr1:197871301-197872514	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:197871097-197872605	HepG2	liver:	n/a	n/a
34	TBP	chr1:197871241-197872527	Hela-S3	cervix:	n/a	n/a
35	REST	chr1:197871355-197872461	HL-60	blood:	n/a	n/a
36	SMARCC1	chr1:197871294-197872505	Hela-S3	cervix:	n/a	n/a
37	MAX	chr1:197871338-197872574	ECC-1	luminal epithelium:	n/a	n/a
38	IRF1	chr1:197871314-197872698	K562	blood:	n/a	n/a
39	KAP1	chr1:197871328-197872574	HEK293	kidney:	n/a	n/a
40	ELF1	chr1:197871133-197872633	MCF-7	breast:	n/a	chr1:197871768-197871777
41	MAZ	chr1:197871314-197872457	Hela-S3	cervix:	n/a	n/a
42	TBP	chr1:197871355-197872764	K562	blood:	n/a	n/a
43	MAX	chr1:197871279-197872556	HepG2	liver:	n/a	n/a
44	YY1	chr1:197871217-197872412	SK-N-SH	brain:	n/a	n/a
45	MAFK	chr1:197871300-197872681	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:197871197-197872537	K562	blood:	n/a	n/a
47	MXI1	chr1:197871266-197872815	IMR90	lung:	n/a	n/a
48	ZKSCAN1	chr1:197871252-197872452	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:197870880-197872744	K562	blood:	n/a	n/a
50	CUX1	chr1:197870814-197871469	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197871305..197872284-chr19:13263884..13265085,3	Hela-S3	cervix:
2	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
3	chr1:11968033..11969002-chr1:197871180..197871993,2	Hela-S3	cervix:
4	chr1:197869855..197872200-chr1:198125548..198128117,2	MCF-7	breast:
5	chr1:197852642..197855916-chr1:197868509..197871754,4	K562	blood:
6	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:
7	chr1:197870101..197873220-chr1:197881150..197886265,4	MCF-7	breast:
8	chr1:197868383..197873929-chr1:197879774..197886951,11	K562	blood:
9	chr1:197871185..197872066-chr6:27114432..27115278,2	Hela-S3	cervix:
10	chr1:197589072..197591210-chr1:197869389..197871668,2	MCF-7	breast:
11	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:

No data

Variant related genes	Relation type
C1orf53	TF binding region
ENSG00000151414	Chromatin interaction
ENSG00000143355	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000213047	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197903	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16842138	0.90[AFR][1000 genomes]
rs59509398	0.90[AFR][1000 genomes]
rs60614695	0.91[AFR][1000 genomes]
rs74134514	0.90[AFR][1000 genomes]
rs74134515	0.90[AFR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197870800-197871400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:197870800-197871400	Flanking Active TSS	A549	lung
3	chr1:197870800-197871400	Flanking Active TSS	Dnd41	blood
4	chr1:197870800-197871400	Flanking Active TSS	Hela-S3	cervix
5	chr1:197870800-197872000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:197870800-197872800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:197871000-197871400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr1:197871000-197871400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:197871000-197871400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:197871000-197871400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:197871000-197871400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:197871000-197871400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:197871000-197871400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:197871000-197871400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:197871000-197871400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:197871000-197871400	Flanking Active TSS	Liver	Liver
17	chr1:197871000-197871400	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr1:197871000-197871400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr1:197871000-197871400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr1:197871000-197871400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr1:197871000-197871400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr1:197871000-197871400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:197871000-197871400	Flanking Active TSS	Fetal Brain Male	brain
24	chr1:197871000-197871400	Flanking Active TSS	Fetal Brain Female	brain
25	chr1:197871000-197871400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:197871000-197871400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:197871000-197871400	Enhancers	Small Intestine	intestine
28	chr1:197871000-197871400	Flanking Active TSS	NHEK	skin
29	chr1:197871000-197871400	Flanking Active TSS	Osteobl	bone
30	chr1:197871000-197871600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr1:197871000-197871600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr1:197871000-197871600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:197871000-197871600	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr1:197871000-197871600	Enhancers	Fetal Heart	heart
35	chr1:197871000-197871600	Flanking Active TSS	HMEC	breast
36	chr1:197871000-197871600	Flanking Active TSS	K562	blood
37	chr1:197871000-197872200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:197871000-197872200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:197871000-197872200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:197871000-197872200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:197871000-197872400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:197871000-197872400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:197871000-197872400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:197871000-197872400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr1:197871000-197872400	Active TSS	HSMMtube	muscle
46	chr1:197871000-197872600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:197871000-197872600	Active TSS	Psoas Muscle	Psoas
48	chr1:197871000-197872600	Active TSS	Right Atrium	heart
49	chr1:197871000-197872600	Active TSS	NHDF-Ad	bronchial
50	chr1:197871200-197871400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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