Variant report

Variant	rs61807814
Chromosome Location	chr1:169763125-169763126
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:169763021-169765340	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr1:169763111-169765549	IMR90	lung:	n/a	n/a
3	HCFC1	chr1:169763085-169765566	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr1:169762891-169763264	HepG2	liver:	n/a	n/a
5	MAFK	chr1:169762919-169764387	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:169763114-169764613	GM12878	blood:	n/a	n/a
7	MAFK	chr1:169762895-169763235	HepG2	liver:	n/a	n/a
8	MAFF	chr1:169762906-169763257	K562	blood:	n/a	chr1:169763065-169763083
9	MAFK	chr1:169762906-169763221	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:169763043-169764894	SK-N-MC	brain:	n/a	n/a
11	MAFK	chr1:169762926-169763187	K562	blood:	n/a	n/a
12	MAFF	chr1:169762912-169763213	HepG2	liver:	n/a	chr1:169763065-169763083

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169737043..169739732-chr1:169761259..169763805,3	MCF-7	breast:
2	chr1:169679878..169683283-chr1:169762041..169765464,5	MCF-7	breast:
3	chr1:169738855..169740454-chr1:169761742..169763292,2	K562	blood:
4	chr1:169680417..169682445-chr1:169762164..169765185,3	MCF-7	breast:
5	chr1:169454326..169457851-chr1:169761976..169765744,3	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf112	TF binding region
ENSG00000213062	Chromatin interaction
ENSG00000188404	Chromatin interaction
ENSG00000117479	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10489175	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11577641	0.85[EUR][1000 genomes]
rs11578817	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11579102	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11579709	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11581959	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11582552	0.82[EUR][1000 genomes]
rs11585093	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11589659	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11589671	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11590604	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1572551	0.81[AFR][1000 genomes]
rs16828209	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16862683	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862705	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2420510	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2420511	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34657513	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35196850	0.81[AMR][1000 genomes]
rs3753312	0.83[EUR][1000 genomes]
rs3766138	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766139	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766145	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766146	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3766150	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3817859	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656198	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4656201	0.88[EUR][1000 genomes]
rs4656720	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656722	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656723	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4656726	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55806711	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57805301	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58111285	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60191157	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60315765	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61806076	0.81[AFR][1000 genomes]
rs61807812	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807813	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61807817	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61807818	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61807835	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61807840	0.81[AMR][1000 genomes]
rs6685211	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73026253	0.81[AMR][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	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169757400-169763200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:169758200-169763200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:169758200-169763200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:169758600-169763200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:169758600-169763200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:169758600-169763400	Weak transcription	Gastric	stomach
7	chr1:169758800-169763200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:169758800-169763200	Weak transcription	HSMM	muscle
9	chr1:169758800-169763600	Weak transcription	Spleen	Spleen
10	chr1:169759200-169763200	Weak transcription	Ovary	ovary
11	chr1:169759200-169763200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:169759600-169763200	Weak transcription	Pancreas	Pancrea
13	chr1:169759800-169763200	Weak transcription	Fetal Intestine Large	intestine
14	chr1:169759800-169763200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:169760400-169763200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:169760400-169763200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:169760400-169763200	Weak transcription	Lung	lung
18	chr1:169760400-169763200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:169760400-169763200	Weak transcription	Psoas Muscle	Psoas
20	chr1:169760400-169763200	Weak transcription	NH-A	brain
21	chr1:169760400-169763200	Weak transcription	NHDF-Ad	bronchial
22	chr1:169760400-169763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:169760800-169763200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:169760800-169763200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:169761000-169763200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:169761000-169763200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:169761400-169763200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:169761600-169763200	Enhancers	HepG2	liver
29	chr1:169762200-169763200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:169762200-169763400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:169762400-169763200	Weak transcription	Aorta	Aorta
32	chr1:169762400-169763200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:169762400-169763200	Enhancers	Fetal Brain Male	brain
34	chr1:169762400-169763200	Enhancers	Fetal Thymus	thymus
35	chr1:169762400-169763200	Active TSS	Hela-S3	cervix
36	chr1:169762600-169763200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:169762600-169763200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:169762600-169763200	Enhancers	Brain Anterior Caudate	brain
39	chr1:169762600-169763200	Enhancers	Fetal Heart	heart
40	chr1:169762600-169763200	Weak transcription	Left Ventricle	heart
41	chr1:169762600-169763800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:169762600-169765400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:169762800-169763200	Enhancers	Primary B cells from cord blood	blood
44	chr1:169762800-169763200	Enhancers	Primary hematopoietic stem cells	blood
45	chr1:169762800-169763200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:169762800-169763200	Enhancers	Brain Germinal Matrix	brain
47	chr1:169762800-169763200	Weak transcription	Fetal Kidney	kidney
48	chr1:169762800-169763200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:169762800-169763400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:169762800-169763400	Flanking Active TSS	Dnd41	blood

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