Variant report

Variant	rs73319188
Chromosome Location	chr8:110651902-110651903
allele	A/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	chr8:110651869-110652176	HepG2	liver:	n/a	chr8:110651999-110652018
2	RAD21	chr8:110651589-110652329	MCF-7	breast:	n/a	chr8:110651999-110652018
3	RAD21	chr8:110651878-110652092	K562	blood:	n/a	chr8:110651999-110652018
4	RAD21	chr8:110651711-110652266	A549	lung:	n/a	chr8:110651999-110652018
5	CTCF	chr8:110651884-110652153	MCF-7	breast:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
6	CTCF	chr8:110651900-110652050	HMEC	breast:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
7	CTCF	chr8:110651900-110652050	HEEpiC	esophagus:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
8	RCOR1	chr8:110651865-110652134	HepG2	liver:	n/a	n/a
9	CTCF	chr8:110651838-110652212	K562	blood:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
10	CTCF	chr8:110651880-110652030	HCPEpiC	choroid plexus:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
11	CTCF	chr8:110651900-110652050	GM12871	blood:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
12	CTCF	chr8:110651872-110652172	T-47D	breast:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
13	CTCF	chr8:110651900-110652050	AG09319	gingival:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
14	CTCF	chr8:110651841-110652178	HepG2	liver:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
15	RAD21	chr8:110651623-110652448	HCT-116	colon:	n/a	chr8:110651999-110652018
16	CTCF	chr8:110651880-110652030	A549	lung:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
17	CTCF	chr8:110651816-110652195	A549	lung:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
18	YY1	chr8:110651854-110652081	HCT-116	colon:	n/a	n/a
19	RAD21	chr8:110651670-110652376	HCT-116	colon:	n/a	chr8:110651999-110652018
20	CTCF	chr8:110651897-110652136	MCF-7	breast:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
21	CTCF	chr8:110651780-110651930	HAc	cerebellar:	n/a	n/a
22	CTCF	chr8:110651887-110652149	NHEK	skin:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
23	CTCF	chr8:110651901-110652216	K562	blood:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
24	CTCF	chr8:110651900-110652050	HPAF	blood vessel:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
25	CTCF	chr8:110651900-110652050	SK-N-SH_RA	brain:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
26	RAD21	chr8:110651805-110652155	SK-N-SH_RA	brain:	n/a	chr8:110651999-110652018
27	CTCF	chr8:110651751-110652320	MCF-7	breast:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
28	RAD21	chr8:110651806-110652201	H1-hESC	embryonic stem cell:	n/a	chr8:110651999-110652018
29	CTCF	chr8:110651860-110652123	K562	blood:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
30	CTCF	chr8:110651820-110651970	WI-38	lung:	n/a	n/a
31	RAD21	chr8:110651761-110652258	A549	lung:	n/a	chr8:110651999-110652018
32	CTCF	chr8:110651902-110652139	A549	lung:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
33	RAD21	chr8:110651785-110652299	MCF-7	breast:	n/a	chr8:110651999-110652018
34	CTCF	chr8:110651880-110652030	BJ	skin:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
35	SMC3	chr8:110651856-110652221	HepG2	liver:	n/a	chr8:110652009-110652017 chr8:110652003-110652017
36	CTCF	chr8:110651880-110652030	HUVEC	blood vessel:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
37	CTCF	chr8:110651900-110652050	HBMEC	blood vessel:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
38	CTCF	chr8:110651698-110652259	MCF-7	breast:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
39	CTCF	chr8:110651805-110652177	A549	lung:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
40	CTCF	chr8:110651900-110652050	GM12865	blood:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
41	FOXA2	chr8:110651573-110653660	HepG2	liver:	n/a	chr8:110652522-110652534
42	CTCF	chr8:110651840-110651990	GM12875	blood:	n/a	n/a
43	CTCF	chr8:110651860-110652010	RPTEC	kidney:	n/a	n/a
44	RAD21	chr8:110651901-110652150	SK-N-SH_RA	brain:	n/a	chr8:110651999-110652018
45	MYBL2	chr8:110651829-110653046	HepG2	liver:	n/a	n/a
46	RAD21	chr8:110651856-110652181	H1-hESC	embryonic stem cell:	n/a	chr8:110651999-110652018
47	CTCF	chr8:110651897-110652125	Medullo	brain:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019
48	POLR2A	chr8:110651861-110652221	HCT-116	colon:	n/a	n/a
49	RAD21	chr8:110651842-110652188	HepG2	liver:	n/a	chr8:110651999-110652018
50	CTCF	chr8:110651843-110652115	H1-hESC	embryonic stem cell:	n/a	chr8:110651996-110652017 chr8:110652007-110652016 chr8:110652001-110652019

No.	Distal block	Cell Line	Cell type
1	chr8:110573084..110574695-chr8:110651484..110652533,12	MCF-7	breast:
2	chr8:110579382..110581964-chr8:110650395..110652048,2	MCF-7	breast:
3	chr8:110649169..110652040-chr8:110653790..110655530,2	K562	blood:
4	chr8:110573673..110575507-chr8:110649898..110652477,2	MCF-7	breast:
5	chr8:110344019..110346826-chr8:110650680..110652185,2	K562	blood:
6	chr8:110643544..110645348-chr8:110650716..110653682,2	MCF-7	breast:
7	chr8:110550837..110554716-chr8:110650281..110652829,3	MCF-7	breast:
8	chr8:110649788..110653968-chr8:110654410..110658481,7	K562	blood:
9	chr8:110564777..110566734-chr8:110651673..110653484,2	MCF-7	breast:
10	chr8:110645891..110648090-chr8:110649445..110652296,2	K562	blood:
11	chr8:110573577..110574441-chr8:110651735..110652540,3	MCF-7	breast:
12	chr8:110553979..110556820-chr8:110650989..110652969,2	MCF-7	breast:
13	chr8:110650444..110652185-chr8:110656417..110658481,2	K562	blood:

Variant related genes	Relation type
ENSG00000248050	TF binding region
ENSG00000147654	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10086058	1.00[EUR][1000 genomes]
rs10091536	1.00[EUR][1000 genomes]
rs10097751	1.00[EUR][1000 genomes]
rs10101288	1.00[EUR][1000 genomes]
rs16879889	1.00[EUR][1000 genomes]
rs16879906	1.00[EUR][1000 genomes]
rs28423669	1.00[EUR][1000 genomes]
rs28571606	1.00[EUR][1000 genomes]
rs28583803	1.00[EUR][1000 genomes]
rs28593097	1.00[EUR][1000 genomes]
rs28610171	1.00[EUR][1000 genomes]
rs28623195	1.00[EUR][1000 genomes]
rs4313130	1.00[EUR][1000 genomes]
rs57167766	1.00[EUR][1000 genomes]
rs57285880	1.00[EUR][1000 genomes]
rs57962861	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57964282	1.00[ASN][1000 genomes]
rs58404081	1.00[EUR][1000 genomes]
rs58910462	1.00[EUR][1000 genomes]
rs59161508	1.00[EUR][1000 genomes]
rs59981669	1.00[EUR][1000 genomes]
rs60387056	1.00[EUR][1000 genomes]
rs60841208	1.00[EUR][1000 genomes]
rs73319190	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817773	1.00[EUR][1000 genomes]
rs7825511	1.00[EUR][1000 genomes]
rs7825600	1.00[EUR][1000 genomes]
rs7825601	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
3	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
4	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
6	chr8:110631600-110652000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:110633200-110656000	Weak transcription	Gastric	stomach
8	chr8:110640200-110652000	Weak transcription	Adipose Nuclei	Adipose
9	chr8:110640200-110655200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:110643800-110655400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:110646800-110652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:110648200-110652000	Enhancers	HepG2	liver
13	chr8:110648200-110655600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:110648800-110652000	Weak transcription	Left Ventricle	heart
15	chr8:110649200-110652400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:110650400-110652400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:110650400-110654800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:110650600-110652000	Weak transcription	Pancreas	Pancrea
19	chr8:110650600-110652200	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:110650600-110653800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:110650600-110655600	Weak transcription	Right Atrium	heart
22	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:110651000-110652400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:110651200-110655600	Weak transcription	Fetal Intestine Small	intestine
25	chr8:110651400-110652400	Enhancers	HMEC	breast
26	chr8:110651600-110652000	Enhancers	A549	lung
27	chr8:110651600-110652600	Flanking Active TSS	Liver	Liver
28	chr8:110651600-110652800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr8:110651800-110652000	Enhancers	Fetal Brain Male	brain
30	chr8:110651800-110652200	Enhancers	Fetal Intestine Large	intestine
31	chr8:110651800-110652200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:110651800-110652200	Flanking Active TSS	NHEK	skin
33	chr8:110651800-110652600	Enhancers	Stomach Mucosa	stomach
34	chr8:110651800-110652600	Enhancers	Stomach Smooth Muscle	stomach
35	chr8:110651800-110652800	Enhancers	Rectal Mucosa Donor 31	rectum

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