Variant report

Variant	rs12628608
Chromosome Location	chr22:30955907-30955908
allele	A/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	MYBL2	chr22:30955786-30956182	HepG2	liver:	n/a	n/a
2	USF1	chr22:30955823-30956028	HepG2	liver:	n/a	chr22:30955916-30955927
3	SP1	chr22:30955739-30956284	HepG2	liver:	n/a	n/a
4	HEY1	chr22:30955657-30956111	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:30955665-30956059	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:30955615-30956082	HepG2	liver:	n/a	n/a
7	POLR2A	chr22:30955660-30955943	HepG2	liver:	n/a	n/a
8	RXRA	chr22:30955826-30956239	HepG2	liver:	n/a	chr22:30955860-30955869
9	FOXA1	chr22:30955876-30956377	HepG2	liver:	n/a	n/a
10	HNF4A	chr22:30955905-30956161	HepG2	liver:	n/a	n/a
11	HEY1	chr22:30955615-30956027	HepG2	liver:	n/a	n/a
12	POLR2A	chr22:30955615-30955974	HepG2	liver:	n/a	n/a
13	MYC	chr22:30955852-30956036	HepG2	liver:	n/a	chr22:30955919-30955930

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30954691..30956709-chr22:31029037..31031961,2	K562	blood:
2	chr22:30949274..30954211-chr22:30954380..30957698,6	K562	blood:

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000100036	Chromatin interaction
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12628099	1.00[EUR][1000 genomes]
rs16988790	1.00[EUR][1000 genomes]
rs2301954	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30939000-30962000	Weak transcription	Liver	Liver
2	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30945800-30957400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:30946200-30957600	Weak transcription	Spleen	Spleen
5	chr22:30947800-30957600	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:30948400-30961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:30949600-30956800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:30950000-30957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:30950200-30957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:30950600-30956200	Weak transcription	A549	lung
11	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:30951600-30960200	Weak transcription	Brain Germinal Matrix	brain
13	chr22:30951800-30960200	Weak transcription	Brain Angular Gyrus	brain
14	chr22:30952000-30956400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:30952200-30960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:30952400-30960200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:30952600-30961600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:30953200-30957400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:30953200-30957400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:30953200-30958600	Weak transcription	Pancreas	Pancrea
21	chr22:30953200-30960000	Weak transcription	Brain Anterior Caudate	brain
22	chr22:30953400-30960200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:30953400-30960200	Weak transcription	Brain Substantia Nigra	brain
24	chr22:30953800-30965200	Weak transcription	Gastric	stomach
25	chr22:30954600-30957600	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:30955600-30956000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:30955600-30956000	Enhancers	Fetal Intestine Large	intestine
28	chr22:30955600-30956200	Genic enhancers	Fetal Intestine Small	intestine
29	chr22:30955600-30956600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:30955600-30956600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:30955600-30958600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:30955600-30958800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr22:30955600-30958800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:30955800-30956000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr22:30955800-30956200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:30955800-30956400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:30955800-30956600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr22:30955800-30956600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr22:30955800-30956600	Flanking Active TSS	HepG2	liver
40	chr22:30955800-30956800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:30955800-30956800	Enhancers	K562	blood
42	chr22:30955800-30958000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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