Variant report

Variant	rs11883962
Chromosome Location	chr2:54937095-54937096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54936799..54938418-chr2:54939824..54941892,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10169439	0.89[EUR][1000 genomes]
rs10175967	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10188185	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10194108	0.86[EUR][1000 genomes]
rs11888644	0.87[EUR][1000 genomes]
rs11892703	0.82[AMR][1000 genomes]
rs12713276	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13419761	0.81[EUR][1000 genomes]
rs13428703	0.91[EUR][1000 genomes]
rs17046149	0.82[EUR][1000 genomes]
rs17046257	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33946849	0.82[EUR][1000 genomes]
rs34272251	0.82[EUR][1000 genomes]
rs34456795	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354232	0.88[ASN][1000 genomes]
rs58878579	0.82[EUR][1000 genomes]
rs6545440	0.87[EUR][1000 genomes]
rs6708082	0.89[EUR][1000 genomes]
rs6732751	0.82[EUR][1000 genomes]
rs6740110	0.89[EUR][1000 genomes]
rs6744586	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752720	0.91[EUR][1000 genomes]
rs6753004	0.91[EUR][1000 genomes]
rs67909358	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582640	0.92[EUR][1000 genomes]
rs9917248	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11883962	EML6	cis	Thyroid	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54935600-54937600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:54936200-54937200	Active TSS	Fetal Intestine Large	intestine
3	chr2:54936200-54937400	Active TSS	Pancreas	Pancrea
4	chr2:54936600-54937600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54936800-54937200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr2:54936800-54937200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:54936800-54937200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr2:54936800-54937200	Active TSS	Duodenum Mucosa	Duodenum
9	chr2:54936800-54937200	Enhancers	Lung	lung
10	chr2:54936800-54937400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:54936800-54937600	Enhancers	Gastric	stomach
12	chr2:54937000-54937200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:54937000-54937200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr2:54937000-54937200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:54937000-54937200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:54937000-54937200	Enhancers	Liver	Liver
17	chr2:54937000-54937200	Weak transcription	Esophagus	oesophagus
18	chr2:54937000-54937200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr2:54937000-54937200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:54937000-54937200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
21	chr2:54937000-54937200	Active TSS	NHEK	skin
22	chr2:54937000-54937600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:54937000-54937600	Active TSS	Fetal Intestine Small	intestine
24	chr2:54937000-54937600	Weak transcription	Spleen	Spleen
25	chr2:54937000-54938000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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