Variant report

Variant	rs56137923
Chromosome Location	chr8:99054796-99054797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:99054791-99055362	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:99054706-99055256	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:99054646-99059519	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr8:99054066-99055341	U87	brain:	n/a	n/a
5	POLR2A	chr8:99054198-99058553	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr8:99054501-99055042	K562	blood:	n/a	n/a
7	POLR2A	chr8:99054010-99056007	K562	blood:	n/a	n/a
8	POLR2A	chr8:99054530-99058884	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:99054790-99055269	GM12891	blood:	n/a	n/a
10	POLR2A	chr8:99050206-99056102	K562	blood:	n/a	n/a
11	POLR2A	chr8:99054736-99055060	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:99054785-99055657	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:99051437-99058581	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr8:99054609-99055142	U87	brain:	n/a	n/a
15	POLR2A	chr8:99054736-99058558	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr8:99050185-99058947	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:99054635-99055529	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr8:99050842-99055413	Hela-S3	cervix:	n/a	n/a
19	SP1	chr8:99054790-99055064	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:99054066-99055328	U87	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99054385..99060040-chr8:99125093..99131908,20	MCF-7	breast:
2	chr8:98961024..98963389-chr8:99054505..99057436,2	MCF-7	breast:
3	chr8:99054555..99060747-chr8:99127722..99132697,23	MCF-7	breast:
4	chr8:99039036..99041305-chr8:99052525..99056666,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MATN2-1	chr8:99053954-99055555	ENSG00000245970.2

No data

Variant related genes	Relation type
SNORA72	TF binding region
ENSG00000132541	Chromatin interaction
ENSG00000132561	Chromatin interaction
ENSG00000104356	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10098159	1.00[ASN][1000 genomes]
rs10955141	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955142	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955145	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955146	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955147	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11559201	1.00[ASN][1000 genomes]
rs11559202	1.00[ASN][1000 genomes]
rs11776602	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784449	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785807	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990341	0.83[ASN][1000 genomes]
rs11991161	1.00[ASN][1000 genomes]
rs11996042	1.00[ASN][1000 genomes]
rs11997426	1.00[ASN][1000 genomes]
rs12544193	1.00[ASN][1000 genomes]
rs12549802	1.00[ASN][1000 genomes]
rs12549967	1.00[ASN][1000 genomes]
rs12550104	1.00[ASN][1000 genomes]
rs13248865	1.00[ASN][1000 genomes]
rs13254615	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254737	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265127	1.00[ASN][1000 genomes]
rs13268951	1.00[ASN][1000 genomes]
rs13269757	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13274382	1.00[ASN][1000 genomes]
rs13279197	1.00[ASN][1000 genomes]
rs13439743	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896517	1.00[ASN][1000 genomes]
rs2279120	1.00[ASN][1000 genomes]
rs2290467	1.00[ASN][1000 genomes]
rs2290468	1.00[ASN][1000 genomes]
rs2290469	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877453	0.91[AFR][1000 genomes]
rs3088121	1.00[ASN][1000 genomes]
rs34139241	1.00[ASN][1000 genomes]
rs34276726	1.00[ASN][1000 genomes]
rs34899856	1.00[ASN][1000 genomes]
rs35417638	1.00[ASN][1000 genomes]
rs3758031	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55698139	0.92[AFR][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs57866232	1.00[ASN][1000 genomes]
rs60324498	1.00[ASN][1000 genomes]
rs68116021	0.83[ASN][1000 genomes]
rs68131553	1.00[ASN][1000 genomes]
rs6985709	1.00[ASN][1000 genomes]
rs6986891	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987112	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004993	1.00[ASN][1000 genomes]
rs7012838	1.00[ASN][1000 genomes]
rs7016999	1.00[ASN][1000 genomes]
rs71514975	1.00[ASN][1000 genomes]
rs72678742	1.00[ASN][1000 genomes]
rs9918865	0.85[AMR][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
3	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
4	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
5	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
6	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:99033800-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:99033800-99055200	Weak transcription	Small Intestine	intestine
9	chr8:99033800-99055600	Weak transcription	Left Ventricle	heart
10	chr8:99034200-99054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:99037600-99054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:99037600-99056400	Weak transcription	Lung	lung
13	chr8:99043600-99055400	Weak transcription	Esophagus	oesophagus
14	chr8:99044800-99057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:99045400-99054800	Weak transcription	Stomach Mucosa	stomach
16	chr8:99045600-99056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:99046000-99055200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:99046200-99054800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:99046200-99054800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:99046200-99056400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:99046400-99055600	Weak transcription	HSMMtube	muscle
22	chr8:99047000-99055800	Weak transcription	Ovary	ovary
23	chr8:99047000-99056400	Weak transcription	Colonic Mucosa	Colon
24	chr8:99047200-99054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:99047200-99054800	Weak transcription	Fetal Kidney	kidney
26	chr8:99047200-99055200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:99047400-99055000	Weak transcription	Fetal Stomach	stomach
28	chr8:99049600-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:99050000-99055400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:99050400-99055000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:99050800-99055000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:99051000-99055400	Strong transcription	Fetal Thymus	thymus
33	chr8:99051000-99055800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:99051800-99055800	Strong transcription	Fetal Intestine Large	intestine
35	chr8:99052000-99054800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:99052000-99054800	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:99052000-99054800	Weak transcription	Fetal Heart	heart
38	chr8:99052000-99055400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:99052200-99054800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr8:99052200-99055000	Strong transcription	Adipose Nuclei	Adipose
41	chr8:99052200-99055200	Strong transcription	HSMM	muscle
42	chr8:99052400-99054800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:99052400-99054800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:99052400-99054800	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:99052400-99054800	Strong transcription	Osteobl	bone
46	chr8:99052400-99055000	Strong transcription	Liver	Liver
47	chr8:99052400-99055000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr8:99052400-99055200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:99052400-99055400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:99052400-99055800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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