Variant report

Variant	rs4149487
Chromosome Location	chr22:30958223-30958224
allele	C/T
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	GATA1	chr22:30957940-30958772	PBDE	blood:	n/a	chr22:30958588-30958596

Variant related genes	Relation type
GAL3ST1	TF binding region

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

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

rs_ID	r²[population]
rs12627772	0.82[ASN][1000 genomes]
rs4149488	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42932	0.82[ASN][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	chr22:30948400-30961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:30951600-30960200	Weak transcription	Brain Germinal Matrix	brain
6	chr22:30951800-30960200	Weak transcription	Brain Angular Gyrus	brain
7	chr22:30952200-30960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:30952400-30960200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:30952600-30961600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:30953200-30958600	Weak transcription	Pancreas	Pancrea
11	chr22:30953200-30960000	Weak transcription	Brain Anterior Caudate	brain
12	chr22:30953400-30960200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr22:30953400-30960200	Weak transcription	Brain Substantia Nigra	brain
14	chr22:30953800-30965200	Weak transcription	Gastric	stomach
15	chr22:30955600-30958600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30955600-30958800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr22:30955600-30958800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:30956200-30958800	Enhancers	A549	lung
19	chr22:30956600-30958400	Enhancers	Fetal Intestine Large	intestine
20	chr22:30957400-30958400	Enhancers	Duodenum Mucosa	Duodenum
21	chr22:30957400-30958800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:30957400-30958800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:30957400-30958800	Genic enhancers	Brain Inferior Temporal Lobe	brain
24	chr22:30957600-30958800	Enhancers	Hela-S3	cervix
25	chr22:30957800-30958800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:30958000-30960200	Weak transcription	Spleen	Spleen
27	chr22:30958000-30960200	Weak transcription	HepG2	liver
28	chr22:30958000-30960400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:30958000-30960400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:30958000-30960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:30958000-30960600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr22:30958000-30960600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:30958000-30960600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:30958000-30969600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:30958200-30958600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:30958200-30958800	Enhancers	NHEK	skin
37	chr22:30958200-30960200	Weak transcription	Brain Hippocampus Middle	brain
38	chr22:30958200-30960400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:30958200-30960600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:30958200-30960600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:30958200-30960600	Strong transcription	Fetal Intestine Small	intestine
42	chr22:30958200-30964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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