Variant report

Variant	rs61773101
Chromosome Location	chr1:95582202-95582203
allele	C/T
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	RAD21	chr1:95582166-95582636	SK-N-SH_RA	brain:	n/a	n/a
2	REST	chr1:95581938-95583315	H1-neurons	neurons:	n/a	chr1:95583217-95583230 chr1:95582375-95582395 chr1:95583161-95583174 chr1:95582615-95582635 chr1:95582615-95582635
3	RFX5	chr1:95582182-95583171	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:95582105-95583015	HCT-116	colon:	n/a	n/a
5	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
6	TAF1	chr1:95582160-95583351	ECC-1	luminal epithelium:	n/a	n/a
7	MYC	chr1:95582180-95583565	K562	blood:	n/a	chr1:95582839-95582849
8	TEAD4	chr1:95582150-95582885	K562	blood:	n/a	n/a
9	MAX	chr1:95582179-95583242	Hela-S3	cervix:	n/a	chr1:95582839-95582849
10	USF2	chr1:95582194-95582754	Hela-S3	cervix:	n/a	chr1:95582635-95582651
11	MYBL2	chr1:95582154-95582862	HepG2	liver:	n/a	n/a
12	CTCF	chr1:95582196-95582623	HepG2	liver:	n/a	n/a
13	TBL1XR1	chr1:95582195-95583199	K562	blood:	n/a	n/a
14	RAD21	chr1:95582156-95583515	H1-hESC	embryonic stem cell:	n/a	chr1:95583050-95583063 chr1:95583109-95583121 chr1:95583107-95583126
15	RCOR1	chr1:95582190-95583315	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr1:95582151-95582693	A549	lung:	n/a	n/a
17	MAX	chr1:95582105-95583117	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
18	MAX	chr1:95582194-95582712	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:95582162-95582636	T-47D	breast:	n/a	n/a
20	CTCF	chr1:95581805-95583042	A549	lung:	n/a	n/a
21	BACH1	chr1:95582140-95583091	H1-hESC	embryonic stem cell:	n/a	n/a
22	KAP1	chr1:95582130-95582932	U2OS	brain:	n/a	n/a
23	TEAD4	chr1:95582176-95582737	ECC-1	luminal epithelium:	n/a	n/a
24	ZKSCAN1	chr1:95582181-95583192	Hela-S3	cervix:	n/a	chr1:95582613-95582626
25	CTCF	chr1:95582093-95582748	HCT-116	colon:	n/a	n/a
26	ELF1	chr1:95582142-95582542	K562	blood:	n/a	n/a
27	IRF1	chr1:95581994-95582906	K562	blood:	n/a	chr1:95582836-95582850
28	MAX	chr1:95582176-95582614	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr1:95582036-95584093	SK-N-SH	brain:	n/a	chr1:95583750-95583757 chr1:95583050-95583063 chr1:95583664-95583676 chr1:95583662-95583681 chr1:95583109-95583121 chr1:95583107-95583126
30	CTCF	chr1:95582172-95582625	MCF-7	breast:	n/a	n/a
31	MAX	chr1:95582131-95583198	A549	lung:	n/a	chr1:95582839-95582849
32	IRF1	chr1:95581984-95583100	K562	blood:	n/a	chr1:95582836-95582850
33	SMC3	chr1:95582190-95582852	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:95582165-95582593	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr1:95582189-95582501	A549	lung:	n/a	n/a
36	SMC3	chr1:95582167-95583754	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr1:95582103-95583749	SK-N-SH	brain:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
38	TEAD4	chr1:95582079-95582688	K562	blood:	n/a	n/a
39	MAX	chr1:95582132-95583522	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
40	CTCF	chr1:95582200-95582537	A549	lung:	n/a	n/a
41	TBP	chr1:95582190-95582880	Hela-S3	cervix:	n/a	n/a
42	TEAD4	chr1:95582128-95582741	HCT-116	colon:	n/a	n/a
43	CTCF	chr1:95582080-95582230	BE2_C	brain:	n/a	n/a
44	TCF12	chr1:95582142-95583485	ECC-1	luminal epithelium:	n/a	chr1:95582442-95582452
45	E2F4	chr1:95581135-95583029	MCF10A-Er-Src	breast:	n/a	chr1:95582289-95582298 chr1:95582642-95582651
46	ARID3A	chr1:95581929-95582635	HepG2	liver:	n/a	n/a
47	EGR1	chr1:95581997-95583256	HCT-116	colon:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95583132-95583154 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582949-95582959 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649
48	TRIM28	chr1:95582183-95582772	K562	blood:	n/a	n/a
49	TCF12	chr1:95582136-95582848	A549	lung:	n/a	chr1:95582442-95582452
50	ELK1	chr1:95582196-95582503	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
3	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
4	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
5	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
6	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
7	chr1:95537896..95540428-chr1:95580653..95582591,2	MCF-7	breast:

Variant related genes	Relation type
TMEM56	TF binding region
ENSG00000231992	TF binding region
TMEM56-RWDD3	TF binding region
ENSG00000172339	Chromatin interaction
ENSG00000206679	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000122481	Chromatin interaction
ENSG00000117528	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12067935	0.95[EUR][1000 genomes]
rs12084387	0.95[EUR][1000 genomes]
rs12407571	0.95[AFR][1000 genomes]
rs61771761	1.00[AMR][1000 genomes]
rs61772226	1.00[ASN][1000 genomes]
rs61772228	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61772229	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61772230	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61772231	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61772232	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61772245	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61772246	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61772640	1.00[AMR][1000 genomes]
rs61772642	1.00[AMR][1000 genomes]
rs61772659	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61773088	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61774264	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61774265	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61774266	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61774267	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61774271	1.00[ASN][1000 genomes]
rs61774273	1.00[AMR][1000 genomes];1.00[ASN][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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
3	esv3407777	chr1:95581989-95584537	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95581000-95582400	Flanking Active TSS	K562	blood
2	chr1:95581600-95582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:95581600-95582400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
4	chr1:95581600-95582400	Weak transcription	Esophagus	oesophagus
5	chr1:95581600-95582400	Flanking Active TSS	HepG2	liver
6	chr1:95581600-95582800	Flanking Active TSS	Liver	Liver
7	chr1:95582000-95582400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:95582000-95582400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:95582000-95582400	Flanking Active TSS	Fetal Heart	heart
10	chr1:95582000-95582400	Flanking Active TSS	Hela-S3	cervix
11	chr1:95582000-95582400	Enhancers	HMEC	breast
12	chr1:95582000-95583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
14	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:95582200-95582400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:95582200-95582400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:95582200-95582400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:95582200-95582400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:95582200-95582400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr1:95582200-95582400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:95582200-95582400	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
23	chr1:95582200-95582400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr1:95582200-95582400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
25	chr1:95582200-95582400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr1:95582200-95582400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr1:95582200-95582400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:95582200-95582400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:95582200-95582400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
30	chr1:95582200-95582400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr1:95582200-95582400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:95582200-95582400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:95582200-95582400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:95582200-95582400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:95582200-95582400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr1:95582200-95582400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr1:95582200-95582400	Active TSS	Brain Germinal Matrix	brain
38	chr1:95582200-95582400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr1:95582200-95582400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr1:95582200-95582400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
41	chr1:95582200-95582400	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr1:95582200-95582400	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr1:95582200-95582400	Bivalent Enhancer	Fetal Lung	lung
44	chr1:95582200-95582400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
45	chr1:95582200-95582400	Bivalent Enhancer	Placenta	Placenta
46	chr1:95582200-95582400	Active TSS	Fetal Stomach	stomach
47	chr1:95582200-95582400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:95582200-95582400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr1:95582200-95582400	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr1:95582200-95582400	Flanking Active TSS	Stomach Mucosa	stomach

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