Variant report

Variant	rs58421114
Chromosome Location	chr12:10368466-10368467
allele	C/G
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	POLR2A	chr12:10365925-10368484	K562	blood:	n/a	n/a
2	STAT1	chr12:10367268-10368793	Hela-S3	cervix:	n/a	chr12:10368140-10368151 chr12:10367475-10367482 chr12:10368218-10368230 chr12:10368358-10368366
3	RUNX3	chr12:10368071-10368472	GM12878	blood:	n/a	chr12:10368276-10368285 chr12:10368276-10368285
4	POLR2A	chr12:10364689-10371257	IMR90	lung:	n/a	n/a
5	CHD1	chr12:10363939-10368549	IMR90	lung:	n/a	chr12:10365036-10365046 chr12:10365423-10365433

No.	Distal block	Cell Line	Cell type
1	chr12:10367004..10369055-chr12:10765454..10767041,2	K562	blood:
2	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:
3	chr12:10364222..10366094-chr12:10367394..10369564,2	K562	blood:

Variant related genes	Relation type
ENSG00000255958	TF binding region
ENSG00000111196	Chromatin interaction
ENSG00000134539	Chromatin interaction
ENSG00000139112	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs5003527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264776	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264778	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264786	0.92[AFR][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10364600-10368800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:10365000-10368600	Active TSS	Left Ventricle	heart
3	chr12:10365200-10368600	Active TSS	Placenta	Placenta
4	chr12:10366600-10370600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:10366800-10369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:10366800-10371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:10366800-10372600	Weak transcription	Gastric	stomach
8	chr12:10366800-10373000	Weak transcription	Esophagus	oesophagus
9	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:10367000-10368600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:10367000-10368600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:10367000-10368800	Enhancers	Fetal Thymus	thymus
13	chr12:10367000-10369000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:10367000-10370600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:10367000-10371800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:10367000-10372400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:10367200-10368800	Flanking Active TSS	Liver	Liver
18	chr12:10367200-10369000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:10367200-10370200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:10367400-10369000	Enhancers	Fetal Brain Male	brain
21	chr12:10367400-10371200	Weak transcription	Thymus	Thymus
22	chr12:10367400-10371800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:10367800-10368800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:10367800-10369000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:10367800-10369000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:10367800-10370200	Weak transcription	Fetal Stomach	stomach
27	chr12:10367800-10374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:10367800-10374400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:10367800-10374400	Weak transcription	HepG2	liver
30	chr12:10368000-10368600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:10368000-10368600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:10368000-10369800	Weak transcription	NH-A	brain
33	chr12:10368000-10370400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:10368000-10370600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:10368000-10370600	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:10368000-10371600	Weak transcription	Lung	lung
37	chr12:10368000-10372200	Weak transcription	Pancreas	Pancrea
38	chr12:10368000-10372200	Weak transcription	Spleen	Spleen
39	chr12:10368000-10372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:10368000-10372400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:10368000-10372400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:10368000-10372400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:10368000-10372600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:10368000-10373000	Weak transcription	HSMM	muscle
45	chr12:10368000-10374200	Weak transcription	NHDF-Ad	bronchial
46	chr12:10368000-10374400	Weak transcription	Small Intestine	intestine
47	chr12:10368000-10375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr12:10368200-10368800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr12:10368200-10369000	Enhancers	Brain Hippocampus Middle	brain
50	chr12:10368200-10369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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