Variant report

Variant	rs73662860
Chromosome Location	chr8:10405434-10405435
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:10405300-10405450	HCM	heart:	n/a	n/a
2	CTCF	chr8:10405385-10405539	GM12892	blood:	n/a	n/a
3	ZNF143	chr8:10405416-10405954	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:10405385-10405932	GM12891	blood:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
5	CTCF	chr8:10405380-10405530	AG04449	skin:	n/a	n/a
6	POLR2A	chr8:10405404-10405466	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr8:10405424-10405944	K562	blood:	n/a	n/a
8	CTCF	chr8:10405320-10405470	GM12869	blood:	n/a	n/a
9	POLR2A	chr8:10405342-10405509	MCF-7	breast:	n/a	n/a
10	RAD21	chr8:10405333-10406088	HCT-116	colon:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
11	CTCF	chr8:10405223-10406155	A549	lung:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
12	CTCF	chr8:10405300-10405450	Caco-2	colon:	n/a	n/a
13	CTCF	chr8:10405403-10405508	NHEK	skin:	n/a	n/a
14	CTCF	chr8:10405400-10405550	HVMF	connective:	n/a	n/a
15	CTCF	chr8:10405413-10405441	GM13976	blood:	n/a	n/a
16	RAD21	chr8:10405432-10406039	HCT-116	colon:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
17	TCF7L2	chr8:10404997-10405930	HCT-116	colon:	n/a	n/a
18	CTCF	chr8:10405328-10406325	SK-N-SH	brain:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
19	CTCF	chr8:10405318-10406112	HCT-116	colon:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
20	CTCF	chr8:10405368-10405554	GM19238	blood:	n/a	n/a
21	CTCF	chr8:10405392-10405524	GM12878	blood:	n/a	n/a
22	RAD21	chr8:10405263-10406203	SK-N-SH	brain:	n/a	chr8:10406004-10406017 chr8:10405748-10405767 chr8:10405928-10405941 chr8:10405753-10405765
23	CTCF	chr8:10405300-10405450	GM12871	blood:	n/a	n/a
24	CTCF	chr8:10405401-10405537	Fibrobl	skin:	n/a	n/a
25	CTCF	chr8:10405413-10405529	GM19240	blood:	n/a	n/a
26	CTCF	chr8:10405400-10405550	A549	lung:	n/a	n/a
27	CTCF	chr8:10405404-10405478	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr8:10405422-10405512	Gliobla	brain:	n/a	n/a
29	CTCF	chr8:10405422-10405516	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:10405401-10405899	ProgFib	skin:	n/a	chr8:10405747-10405765 chr8:10405749-10405770
31	CTCF	chr8:10405407-10405546	GM10266	blood:	n/a	n/a
32	CTCF	chr8:10405402-10405532	GM19239	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10405415-10405465	Hepatocyte	liver:	n/a
2	chr8:10405415-10405465	NB4	blood:	n/a
3	chr8:10405415-10405465	ovcar-3	ovarian:	n/a
4	chr8:10405415-10405465	MCF-7	breast:	n/a
5	chr8:10405415-10405465	GM06990	blood:	n/a
6	chr8:10405415-10405465	HEK293	kidney:	embryo
7	chr8:10405415-10405465	HMEC	breast:	n/a
8	chr8:10405415-10405465	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:10405415-10405465	ProgFib	skin:	n/a
10	chr8:10405415-10405465	SKMC	muscle:	n/a
11	chr8:10405415-10405465	SK-N-SH	brain:	n/a
12	chr8:10405415-10405465	NH-A	brain:	n/a
13	chr8:10405415-10405465	K562	blood:	n/a
14	chr8:10405415-10405465	IMR90	lung:	fetal
15	chr8:10405415-10405465	SAEC	small airway:	n/a
16	chr8:10405415-10405465	AG09319	gingival:	n/a
17	chr8:10405415-10405465	AoSMC	blood vessel:	n/a
18	chr8:10405415-10405465	HUVEC	blood vessel:	n/a
19	chr8:10405415-10405465	SK-N-MC	brain:	n/a
20	chr8:10405415-10405465	HCT-116	colon:	n/a
21	chr8:10405415-10405465	GM12878	blood:	n/a
22	chr8:10405415-10405465	U87	brain:	n/a
23	chr8:10405415-10405465	MCF10A-Er-Src	breast:	n/a
24	chr8:10405415-10405465	BE2_C	brain:	n/a
25	chr8:10405415-10405465	HAEpiC	amniotic membrane:	n/a
26	chr8:10405415-10405465	T-47D	breast:	n/a
27	chr8:10405415-10405465	HNPCEpiC	eye:	n/a
28	chr8:10405415-10405465	AG10803	skin:	n/a
29	chr8:10405415-10405465	HCF	heart:	n/a
30	chr8:10405415-10405465	CMK	blood:	n/a
31	chr8:10405415-10405465	HEEpiC	esophagus:	n/a
32	chr8:10405415-10405465	LNCaP	prostate:	n/a
33	chr8:10405415-10405465	HCPEpiC	choroid plexus:	n/a
34	chr8:10405415-10405465	RPTEC	kidney:	n/a
35	chr8:10405415-10405465	SK-N-SH_RA	brain:	n/a
36	chr8:10405415-10405465	HIPEpiC	eye:	n/a
37	chr8:10405415-10405465	GM19239	blood:	n/a
38	chr8:10405415-10405465	PFSK-1	brain:	n/a
39	chr8:10405415-10405465	AG09309	skin:	n/a
40	chr8:10405415-10405465	PANC-1	pancreas:	n/a
41	chr8:10405415-10405465	AG04450	lung:	fetal
42	chr8:10405415-10405465	AG04449	skin:	fetal
43	chr8:10405415-10405465	HepG2	liver:	n/a
44	chr8:10405415-10405465	NHDF-neo	bronchial:	n/a
45	chr8:10405415-10405465	NT2-D1	testis:	n/a
46	chr8:10405415-10405465	ECC-1	luminal epithelium:	n/a
47	chr8:10405415-10405465	HRCEpiC	kidney:	n/a
48	chr8:10405415-10405465	A549	lung:	n/a
49	chr8:10405415-10405465	HCM	heart:	n/a
50	chr8:10405415-10405465	H1-hESC	embryonic stem cell:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10405123..10407146-chr8:10694080..10697115,3	MCF-7	breast:
2	chr8:10405164..10407665-chr8:10409193..10412013,2	K562	blood:
3	chr8:10405304..10405893-chr8:10696191..10696982,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS51	TF binding region
PRSS51	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10108562	0.87[EUR][1000 genomes]
rs11777184	0.89[EUR][1000 genomes]
rs11780436	0.85[EUR][1000 genomes]
rs11783577	0.85[EUR][1000 genomes]
rs28577240	0.87[EUR][1000 genomes]
rs34994999	0.89[EUR][1000 genomes]
rs4320513	0.91[EUR][1000 genomes]
rs4841364	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4841367	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56096665	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58842562	0.87[EUR][1000 genomes]
rs60930396	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61743179	0.89[EUR][1000 genomes]
rs6601486	0.91[EUR][1000 genomes]
rs73662849	0.87[EUR][1000 genomes]
rs73662851	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73662852	0.87[EUR][1000 genomes]
rs73662853	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73662854	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73662855	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73662857	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73662858	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10403000-10405600	Enhancers	Left Ventricle	heart
2	chr8:10403200-10406200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:10403200-10406200	Enhancers	Right Ventricle	heart
4	chr8:10403200-10407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:10403400-10405800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10403400-10406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:10403400-10407200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:10403400-10412000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:10403600-10405600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr8:10403600-10406000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:10403800-10408200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:10403800-10408200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:10404000-10405800	Enhancers	Placenta	Placenta
14	chr8:10404600-10405800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
15	chr8:10404600-10406200	Enhancers	Gastric	stomach
16	chr8:10404600-10406200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:10404800-10422000	Weak transcription	Right Atrium	heart
18	chr8:10405000-10405600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr8:10405000-10405600	Active TSS	NHDF-Ad	bronchial
20	chr8:10405200-10405600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:10405200-10405600	Weak transcription	Fetal Brain Male	brain
22	chr8:10405400-10405600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:10405400-10405600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr8:10405400-10405600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:10405400-10405600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr8:10405400-10405600	Enhancers	Colon Smooth Muscle	Colon
27	chr8:10405400-10405600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr8:10405400-10405600	Enhancers	Esophagus	oesophagus
29	chr8:10405400-10405600	Enhancers	Fetal Brain Female	brain
30	chr8:10405400-10405600	Bivalent Enhancer	Fetal Heart	heart
31	chr8:10405400-10405600	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr8:10405400-10405600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:10405400-10405600	Enhancers	K562	blood
34	chr8:10405400-10405800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:10405400-10405800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:10405400-10405800	Enhancers	Colonic Mucosa	Colon
37	chr8:10405400-10405800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr8:10405400-10406000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:10405400-10406000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:10405400-10406000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:10405400-10406000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr8:10405400-10406000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:10405400-10406000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr8:10405400-10406200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:10405400-10406200	Enhancers	Liver	Liver

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