Variant report

Variant	rs16898849
Chromosome Location	chr8:124775727-124775728
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	chr8:124775421-124776564	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr8:124775712-124775957	Pancreas_OC	pancreas:	n/a	chr8:124775830-124775839
3	CTCF	chr8:124775612-124776024	K562	blood:	n/a	chr8:124775830-124775839
4	ZNF143	chr8:124775668-124775981	GM12878	blood:	n/a	n/a
5	CTCF	chr8:124775720-124775870	BJ	skin:	n/a	chr8:124775830-124775839
6	RAD21	chr8:124775577-124776003	SK-N-SH_RA	brain:	n/a	n/a
7	ARID3A	chr8:124775597-124775949	HepG2	liver:	n/a	n/a
8	CTCF	chr8:124775588-124776017	HepG2	liver:	n/a	chr8:124775830-124775839
9	CTCF	chr8:124775720-124775870	HEEpiC	esophagus:	n/a	chr8:124775830-124775839
10	CTCF	chr8:124775640-124775979	T-47D	breast:	n/a	chr8:124775830-124775839
11	RAD21	chr8:124775472-124776184	A549	lung:	n/a	n/a
12	RAD21	chr8:124775404-124776242	HCT-116	colon:	n/a	n/a
13	CTCF	chr8:124775528-124776130	MCF-7	breast:	n/a	chr8:124775830-124775839
14	CTCF	chr8:124775603-124775971	K562	blood:	n/a	chr8:124775830-124775839
15	CTCF	chr8:124775720-124775870	GM12869	blood:	n/a	chr8:124775830-124775839
16	CTCF	chr8:124775549-124776128	IMR90	lung:	n/a	chr8:124775830-124775839
17	CTCF	chr8:124775647-124775981	HepG2	liver:	n/a	chr8:124775830-124775839
18	CTCF	chr8:124775717-124775954	Kidney_OC	kidney:	n/a	chr8:124775830-124775839
19	CTCF	chr8:124775722-124775948	A549	lung:	n/a	chr8:124775830-124775839
20	CTCF	chr8:124775655-124775961	SK-N-SH_RA	brain:	n/a	chr8:124775830-124775839
21	RAD21	chr8:124775648-124775946	K562	blood:	n/a	n/a
22	RAD21	chr8:124775595-124776042	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:124775697-124775937	GM10266	blood:	n/a	chr8:124775830-124775839
24	RAD21	chr8:124775486-124776168	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:124775720-124775870	HepG2	liver:	n/a	chr8:124775830-124775839
26	RAD21	chr8:124775510-124776149	A549	lung:	n/a	n/a
27	CTCF	chr8:124775682-124775920	ECC-1	luminal epithelium:	n/a	chr8:124775830-124775839
28	CTCF	chr8:124775603-124776211	HCT-116	colon:	n/a	chr8:124775830-124775839
29	FOXA1	chr8:124775499-124775923	HepG2	liver:	n/a	n/a
30	CTCF	chr8:124775720-124775870	AG09309	skin:	n/a	chr8:124775830-124775839
31	CTCF	chr8:124775689-124775984	HUVEC	blood vessel:	n/a	chr8:124775830-124775839
32	RAD21	chr8:124775513-124776106	ECC-1	luminal epithelium:	n/a	n/a
33	SMC3	chr8:124775640-124776077	GM12878	blood:	n/a	chr8:124775832-124775840
34	RAD21	chr8:124775493-124776086	IMR90	lung:	n/a	n/a
35	RAD21	chr8:124775667-124776064	ECC-1	luminal epithelium:	n/a	n/a
36	RAD21	chr8:124775477-124776096	HepG2	liver:	n/a	n/a
37	RAD21	chr8:124775522-124776028	SK-N-SH_RA	brain:	n/a	n/a
38	RAD21	chr8:124775611-124776008	A549	lung:	n/a	n/a
39	FOXA1	chr8:124775552-124776000	T-47D	breast:	n/a	n/a
40	CTCF	chr8:124775579-124776021	T-47D	breast:	n/a	chr8:124775830-124775839
41	CTCF	chr8:124775701-124775908	SK-N-SH_RA	brain:	n/a	chr8:124775830-124775839
42	ZNF143	chr8:124775662-124775956	K562	blood:	n/a	n/a
43	CTCF	chr8:124775683-124775974	ECC-1	luminal epithelium:	n/a	chr8:124775830-124775839
44	ELK1	chr8:124775679-124775983	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr8:124775414-124776125	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:124775714-124775962	MCF-7	breast:	n/a	chr8:124775830-124775839
47	CTCF	chr8:124775720-124775870	HCPEpiC	choroid plexus:	n/a	chr8:124775830-124775839
48	STAT3	chr8:124775630-124775938	MCF10A-Er-Src	breast:	n/a	n/a
49	RAD21	chr8:124775629-124776020	GM12878	blood:	n/a	n/a
50	CTCF	chr8:124775689-124775972	Hela-S3	cervix:	n/a	chr8:124775830-124775839

No.	Distal block	Cell Line	Cell type
1	chr8:124774793..124777343-chr8:124779675..124781406,2	K562	blood:
2	chr8:124474717..124475814-chr8:124774858..124776308,10	MCF-7	breast:
3	chr8:124496553..124497165-chr8:124775348..124776076,2	MCF-7	breast:
4	chr8:124774301..124776211-chr8:124822631..124825115,2	MCF-7	breast:
5	chr8:124498382..124499732-chr8:124775337..124776622,15	MCF-7	breast:
6	chr8:124498453..124499441-chr8:124775359..124776313,8	K562	blood:
7	chr8:124474635..124475859-chr8:124774943..124776273,8	MCF-7	breast:
8	chr8:124251972..124253606-chr8:124774217..124776133,2	MCF-7	breast:
9	chr8:124498395..124499379-chr8:124775101..124777135,29	MCF-7	breast:
10	chr8:124494348..124496562-chr8:124775687..124777483,2	MCF-7	breast:
11	chr8:124475174..124476679-chr8:124774603..124776298,2	MCF-7	breast:

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000189376	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505441	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11996113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	1.00[EUR][1000 genomes]
rs1975114	1.00[EUR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs4513954	1.00[EUR][1000 genomes]
rs57418226	1.00[EUR][1000 genomes]
rs58056715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58826471	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58870794	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981655	1.00[EUR][1000 genomes]
rs6986577	1.00[EUR][1000 genomes]
rs6986749	1.00[EUR][1000 genomes]
rs6986773	1.00[EUR][1000 genomes]
rs7004529	1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	1.00[EUR][1000 genomes]
rs73324246	1.00[EUR][1000 genomes]
rs7813635	1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	1.00[EUR][1000 genomes]
rs7833197	1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124767800-124778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:124770200-124775800	Enhancers	Fetal Intestine Large	intestine
3	chr8:124770200-124776200	Enhancers	Fetal Intestine Small	intestine
4	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
5	chr8:124773200-124776000	Enhancers	HepG2	liver
6	chr8:124773600-124778200	Weak transcription	K562	blood
7	chr8:124774200-124776200	Enhancers	Colon Smooth Muscle	Colon
8	chr8:124774800-124776000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:124775200-124775800	Enhancers	Small Intestine	intestine
10	chr8:124775400-124776000	Enhancers	Liver	Liver
11	chr8:124775600-124775800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:124775600-124775800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:124775600-124775800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:124775600-124775800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:124775600-124775800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:124775600-124775800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:124775600-124775800	Enhancers	Brain Anterior Caudate	brain
18	chr8:124775600-124775800	Bivalent Enhancer	Fetal Kidney	kidney
19	chr8:124775600-124775800	Enhancers	Fetal Muscle Leg	muscle
20	chr8:124775600-124775800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr8:124775600-124775800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:124775600-124775800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:124775600-124775800	Enhancers	Thymus	Thymus
24	chr8:124775600-124775800	Bivalent Enhancer	Dnd41	blood
25	chr8:124775600-124775800	Enhancers	HUVEC	blood vessel
26	chr8:124775600-124775800	Enhancers	NHEK	skin
27	chr8:124775600-124775800	Enhancers	Osteobl	bone
28	chr8:124775600-124776000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:124775600-124776000	Active TSS	Brain Hippocampus Middle	brain
30	chr8:124775600-124776200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:124775600-124776200	Enhancers	Fetal Heart	heart
32	chr8:124775600-124776200	Enhancers	HMEC	breast
33	chr8:124775600-124776400	Enhancers	Pancreatic Islets	Pancreatic Islet

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