Variant report

Variant	rs61838105
Chromosome Location	chr1:222987742-222987743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:222987713-222988467	GM12878	blood:	n/a	n/a
2	FOSL2	chr1:222987730-222988465	A549	lung:	n/a	chr1:222988077-222988085 chr1:222988077-222988085 chr1:222988076-222988086 chr1:222988078-222988085 chr1:222988076-222988086 chr1:222988076-222988086 chr1:222988076-222988086
3	CTCF	chr1:222987640-222987790	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr1:222987660-222987810	AG04449	skin:	n/a	n/a
5	CTCF	chr1:222987660-222987810	HBMEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:222987533-222989011	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:222987410-222989141	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr1:222987620-222987770	HBMEC	blood vessel:	n/a	n/a
9	MXI1	chr1:222987238-222990528	SK-N-SH	brain:	n/a	n/a
10	GATA2	chr1:222987321-222988749	SH-SY5Y	brain:	n/a	chr1:222988075-222988084 chr1:222988211-222988219
11	CTCF	chr1:222987640-222987790	HCPEpiC	choroid plexus:	n/a	n/a
12	RAD21	chr1:222987721-222988179	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:222987660-222987810	HPF	lung:	n/a	n/a
14	CTCF	chr1:222987700-222987850	NHDF-neo	bronchial:	n/a	n/a
15	POLR2A	chr1:222987715-222987760	HepG2	liver:	n/a	n/a
16	CTCF	chr1:222987620-222987770	HPF	lung:	n/a	n/a
17	CTCF	chr1:222987680-222987830	HVMF	connective:	n/a	n/a
18	CTCF	chr1:222987620-222987770	HMF	breast:	n/a	n/a
19	KAP1	chr1:222987445-222989154	HEK293	kidney:	n/a	chr1:222988078-222988087
20	CTCF	chr1:222987700-222987850	AG10803	skin:	n/a	n/a
21	SMARCB1	chr1:222987621-222988898	Hela-S3	cervix:	n/a	chr1:222988077-222988086
22	KAP1	chr1:222987004-222989161	U2OS	brain:	n/a	chr1:222988078-222988087
23	CHD2	chr1:222987737-222989140	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:222987672-222988778	HEK293	kidney:	n/a	n/a
25	SMC3	chr1:222987722-222989069	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr1:222987700-222989068	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:222987734-222987857	ProgFib	skin:	n/a	n/a
28	CTCF	chr1:222987660-222987810	HCPEpiC	choroid plexus:	n/a	n/a
29	POLR2A	chr1:222987612-222988707	MCF10A-Er-Src	breast:	n/a	n/a
30	SMARCC1	chr1:222987375-222989026	Hela-S3	cervix:	n/a	chr1:222988077-222988086
31	POLR2A	chr1:222987574-222988814	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:222987721-222987771	AoSMC	blood vessel:	n/a
2	chr1:222987721-222987771	U87	brain:	n/a
3	chr1:222987721-222987771	HAEpiC	amniotic membrane:	n/a
4	chr1:222987721-222987771	NH-A	brain:	n/a
5	chr1:222987721-222987771	NB4	blood:	n/a
6	chr1:222987721-222987771	MCF-7	breast:	n/a
7	chr1:222987721-222987771	SKMC	muscle:	n/a
8	chr1:222987721-222987771	HMEC	breast:	n/a
9	chr1:222987721-222987771	AG09309	skin:	n/a
10	chr1:222987721-222987771	GM12891	blood:	n/a
11	chr1:222987721-222987771	PANC-1	pancreas:	n/a
12	chr1:222987721-222987771	HIPEpiC	eye:	n/a
13	chr1:222987721-222987771	SK-N-SH	brain:	n/a
14	chr1:222987721-222987771	HUVEC	blood vessel:	n/a
15	chr1:222987721-222987771	SK-N-MC	brain:	n/a
16	chr1:222987721-222987771	BE2_C	brain:	n/a
17	chr1:222987721-222987771	RPTEC	kidney:	n/a
18	chr1:222987721-222987771	PrEC	prostate:	n/a
19	chr1:222987721-222987771	SK-N-SH_RA	brain:	n/a
20	chr1:222987721-222987771	ECC-1	luminal epithelium:	n/a
21	chr1:222987721-222987771	AG10803	skin:	n/a
22	chr1:222987721-222987771	BJ	skin:	n/a
23	chr1:222987721-222987771	HCPEpiC	choroid plexus:	n/a
24	chr1:222987721-222987771	GM12892	blood:	n/a
25	chr1:222987721-222987771	AG04450	lung:	fetal
26	chr1:222987721-222987771	GM12878	blood:	n/a
27	chr1:222987721-222987771	GM19239	blood:	n/a
28	chr1:222987721-222987771	H1-hESC	embryonic stem cell:	embryo
29	chr1:222987721-222987771	AG09319	gingival:	n/a
30	chr1:222987721-222987771	HEEpiC	esophagus:	n/a
31	chr1:222987721-222987771	ovcar-3	ovarian:	n/a
32	chr1:222987721-222987771	NHDF-neo	bronchial:	n/a
33	chr1:222987721-222987771	AG04449	skin:	fetal
34	chr1:222987721-222987771	Hepatocyte	liver:	n/a
35	chr1:222987721-222987771	NHBE	bronchial:	n/a
36	chr1:222987721-222987771	NT2-D1	testis:	n/a
37	chr1:222987721-222987771	HCM	heart:	n/a
38	chr1:222987721-222987771	SAEC	small airway:	n/a
39	chr1:222987721-222987771	T-47D	breast:	n/a
40	chr1:222987721-222987771	Hela-S3	cervix:	n/a
41	chr1:222987721-222987771	CMK	blood:	n/a
42	chr1:222987721-222987771	ProgFib	skin:	n/a
43	chr1:222987721-222987771	HepG2	liver:	n/a
44	chr1:222987721-222987771	HRPEpiC	eye:	n/a
45	chr1:222987721-222987771	IMR90	lung:	fetal
46	chr1:222987721-222987771	K562	blood:	n/a
47	chr1:222987721-222987771	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:222987721-222987771	HL-60	blood:	n/a
49	chr1:222987721-222987771	A549	lung:	n/a
50	chr1:222987721-222987771	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222986729..222989819-chr1:223001002..223005734,5	MCF-7	breast:
2	chr1:222980666..222982501-chr1:222985818..222988302,2	K562	blood:

No data

Variant related genes	Relation type
DISP1	TF binding region
ENSG00000228106	TF binding region
DISP1	CpG island
ENSG00000228106	CpG island
ENSG00000228106	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10495202	0.94[EUR][1000 genomes]
rs1132369	0.94[EUR][1000 genomes]
rs1132371	0.94[EUR][1000 genomes]
rs17475431	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17475753	0.94[EUR][1000 genomes]
rs17475774	0.94[EUR][1000 genomes]
rs17534704	0.94[EUR][1000 genomes]
rs17534774	0.92[EUR][1000 genomes]
rs17535004	0.94[EUR][1000 genomes]
rs17535032	0.93[EUR][1000 genomes]
rs17535137	0.94[EUR][1000 genomes]
rs2378600	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28362013	0.91[ASN][1000 genomes]
rs34096996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34139393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34151467	0.94[EUR][1000 genomes]
rs34225287	0.94[EUR][1000 genomes]
rs34229647	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34277924	0.94[EUR][1000 genomes]
rs34282641	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34299243	0.94[EUR][1000 genomes]
rs34300028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34505570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34651530	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34690779	0.94[EUR][1000 genomes]
rs34713681	0.94[EUR][1000 genomes]
rs34755094	0.94[EUR][1000 genomes]
rs34761499	0.94[EUR][1000 genomes]
rs34791822	0.94[EUR][1000 genomes]
rs34804073	0.94[EUR][1000 genomes]
rs34830798	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34893395	0.94[EUR][1000 genomes]
rs34898792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34950986	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35131473	0.94[EUR][1000 genomes]
rs35197173	0.96[EUR][1000 genomes]
rs35270311	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35270996	0.87[EUR][1000 genomes]
rs35283922	0.94[EUR][1000 genomes]
rs35356885	0.94[EUR][1000 genomes]
rs35399857	0.94[EUR][1000 genomes]
rs35497286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35591569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35756512	0.94[EUR][1000 genomes]
rs35787799	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36032255	0.94[EUR][1000 genomes]
rs36066427	0.94[EUR][1000 genomes]
rs36083483	0.91[ASN][1000 genomes]
rs36090356	0.93[EUR][1000 genomes]
rs4609435	0.91[ASN][1000 genomes]
rs61838099	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61838107	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838112	0.91[ASN][1000 genomes]
rs61838113	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61838114	0.91[ASN][1000 genomes]
rs61838115	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61838118	0.94[EUR][1000 genomes]
rs61838119	0.94[EUR][1000 genomes]
rs61839587	0.94[EUR][1000 genomes]
rs61839588	0.94[EUR][1000 genomes]
rs61839600	0.94[EUR][1000 genomes]
rs61839601	0.93[EUR][1000 genomes]
rs61839602	0.93[EUR][1000 genomes]
rs71644708	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:222983600-222987800	Enhancers	HepG2	liver
3	chr1:222986400-222987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222986400-222987800	Enhancers	NHLF	lung
5	chr1:222986600-222988000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:222987200-222987800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:222987200-222987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:222987200-222987800	Enhancers	Fetal Muscle Leg	muscle
9	chr1:222987200-222987800	Enhancers	Psoas Muscle	Psoas
10	chr1:222987200-222987800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:222987200-222987800	Enhancers	HSMM	muscle
12	chr1:222987200-222987800	Enhancers	HSMMtube	muscle
13	chr1:222987200-222987800	Enhancers	HUVEC	blood vessel
14	chr1:222987200-222988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:222987200-222988000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:222987200-222988000	Enhancers	Small Intestine	intestine
17	chr1:222987200-222988200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:222987200-222988200	Flanking Active TSS	NH-A	brain
19	chr1:222987400-222987800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:222987400-222987800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:222987400-222987800	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:222987400-222987800	Enhancers	Primary T cells from cord blood	blood
23	chr1:222987400-222987800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:222987400-222987800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:222987400-222987800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:222987400-222987800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:222987400-222987800	Enhancers	Esophagus	oesophagus
28	chr1:222987400-222987800	Enhancers	Fetal Brain Male	brain
29	chr1:222987400-222987800	Enhancers	Fetal Brain Female	brain
30	chr1:222987400-222987800	Flanking Active TSS	Fetal Kidney	kidney
31	chr1:222987400-222987800	Enhancers	Lung	lung
32	chr1:222987400-222987800	Enhancers	Stomach Smooth Muscle	stomach
33	chr1:222987400-222987800	Enhancers	Dnd41	blood
34	chr1:222987400-222988000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:222987400-222988000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:222987400-222988000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:222987400-222988000	Enhancers	Pancreas	Pancrea
38	chr1:222987400-222988000	Enhancers	Spleen	Spleen
39	chr1:222987400-222988000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:222987400-222988200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:222987400-222988200	Flanking Active TSS	Osteobl	bone
42	chr1:222987400-222988600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:222987400-222988800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:222987400-222989000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:222987400-222989400	Active TSS	Brain Angular Gyrus	brain
46	chr1:222987400-222989400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:222987600-222987800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:222987600-222987800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:222987600-222987800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:222987600-222987800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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