Variant report

Variant	rs61935768
Chromosome Location	chr12:58291919-58291920
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58291280-58292512	Raji	blood:	n/a	n/a
2	WRNIP1	chr12:58291906-58292449	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58290453..58292772-chr12:58301540..58304170,2	K562	blood:
2	chr12:58143079..58147361-chr12:58290608..58293518,3	K562	blood:
3	chr12:58239407..58241409-chr12:58290576..58292665,3	MCF-7	breast:
4	chr12:58265896..58267925-chr12:58291113..58293138,2	K562	blood:
5	chr12:58236711..58242486-chr12:58286970..58293951,15	MCF-7	breast:
6	chr12:58257328..58259688-chr12:58290813..58293614,3	MCF-7	breast:
7	chr12:58289871..58291670-chr12:58291918..58293741,2	K562	blood:
8	chr12:58166094..58167924-chr12:58290124..58292095,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245651	TF binding region
ENSG00000123427	Chromatin interaction
ENSG00000245651	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000135446	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11172376	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172377	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834260	1.00[ASN][1000 genomes]
rs12296922	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12309291	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322495	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12322586	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119981	1.00[ASN][1000 genomes]
rs17119991	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34241380	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34372362	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35441007	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35985500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58288200-58293200	Enhancers	Spleen	Spleen
2	chr12:58288400-58292000	Weak transcription	Hela-S3	cervix
3	chr12:58289200-58293400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr12:58290200-58292400	Enhancers	Fetal Brain Male	brain
5	chr12:58290200-58293800	Flanking Active TSS	GM12878-XiMat	blood
6	chr12:58290600-58293000	Weak transcription	Gastric	stomach
7	chr12:58290600-58293800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:58290600-58293800	Enhancers	HMEC	breast
9	chr12:58290800-58292200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:58290800-58292400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:58290800-58292400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr12:58290800-58293400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:58290800-58293800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:58290800-58294200	Enhancers	Primary B cells from cord blood	blood
15	chr12:58290800-58294200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:58290800-58294200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:58291000-58292400	Enhancers	Pancreas	Pancrea
18	chr12:58291000-58292400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:58291000-58292600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:58291000-58293000	Enhancers	HSMMtube	muscle
21	chr12:58291000-58293200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:58291000-58293200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:58291000-58293200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:58291000-58293200	Enhancers	Fetal Muscle Trunk	muscle
25	chr12:58291000-58293200	Enhancers	Lung	lung
26	chr12:58291000-58293200	Enhancers	Psoas Muscle	Psoas
27	chr12:58291000-58293200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:58291000-58293200	Enhancers	HSMM	muscle
29	chr12:58291000-58293400	Enhancers	Aorta	Aorta
30	chr12:58291000-58293400	Enhancers	Esophagus	oesophagus
31	chr12:58291000-58293400	Enhancers	Left Ventricle	heart
32	chr12:58291000-58293400	Enhancers	K562	blood
33	chr12:58291000-58294000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:58291000-58294000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:58291000-58294000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:58291000-58294200	Enhancers	Fetal Thymus	thymus
37	chr12:58291000-58294400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:58291000-58294400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:58291200-58292000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:58291200-58292000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:58291200-58292400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:58291200-58292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:58291200-58292800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr12:58291200-58292800	Enhancers	NHEK	skin
45	chr12:58291200-58293000	Enhancers	Fetal Intestine Small	intestine
46	chr12:58291200-58293000	Enhancers	Stomach Mucosa	stomach
47	chr12:58291200-58293200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:58291200-58293200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:58291200-58293200	Enhancers	Fetal Muscle Leg	muscle
50	chr12:58291200-58293200	Enhancers	Placenta	Placenta

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