Variant report

Variant	rs11033703
Chromosome Location	chr11:36616778-36616779
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	REST	chr11:36615560-36616813	H1-neurons	neurons:	n/a	chr11:36615928-36615936

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36611242..36613521-chr11:36616651..36619477,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAG2-1	chr11:36616413-36616817	NONHSAT018836

Variant related genes	Relation type
RAG2	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11033695	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11033696	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11033698	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11033699	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11033715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12221669	0.82[EUR][1000 genomes]
rs12224777	0.81[EUR][1000 genomes]
rs12225867	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1515060	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2133164	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332439	0.83[EUR][1000 genomes]
rs4151002	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5030414	0.85[EUR][1000 genomes]
rs5030416	0.85[EUR][1000 genomes]
rs56345614	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61877432	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61880060	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61880061	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105311	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7479143	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7944264	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr11:36611400-36616800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
2	chr11:36614200-36617200	Transcr. at gene 5' and 3'	Thymus	Thymus
3	chr11:36614200-36619600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr11:36615600-36616800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:36615600-36616800	Active TSS	Brain Angular Gyrus	brain
6	chr11:36615600-36616800	Active TSS	Fetal Lung	lung
7	chr11:36615600-36617000	Active TSS	K562	blood
8	chr11:36615800-36616800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:36615800-36616800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:36615800-36616800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:36615800-36616800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:36615800-36616800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr11:36615800-36616800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:36615800-36616800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:36615800-36616800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:36615800-36616800	Active TSS	Brain Substantia Nigra	brain
17	chr11:36615800-36616800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:36615800-36616800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr11:36615800-36616800	Active TSS	Fetal Muscle Trunk	muscle
20	chr11:36615800-36616800	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:36615800-36616800	Active TSS	NHEK	skin
22	chr11:36615800-36617000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:36615800-36617000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:36615800-36617000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:36615800-36617000	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr11:36615800-36617000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:36615800-36617000	Active TSS	A549	lung
28	chr11:36615800-36617000	Active TSS	HMEC	breast
29	chr11:36615800-36617000	Active TSS	NH-A	brain
30	chr11:36615800-36617000	Active TSS	NHDF-Ad	bronchial
31	chr11:36615800-36617200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr11:36615800-36617200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:36616000-36616800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:36616000-36616800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:36616000-36616800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:36616000-36616800	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:36616000-36616800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:36616000-36616800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:36616000-36616800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:36616000-36616800	Active TSS	Aorta	Aorta
41	chr11:36616000-36616800	Active TSS	Colonic Mucosa	Colon
42	chr11:36616000-36616800	Active TSS	Colon Smooth Muscle	Colon
43	chr11:36616000-36616800	Active TSS	Fetal Heart	heart
44	chr11:36616000-36616800	Active TSS	Fetal Intestine Large	intestine
45	chr11:36616000-36616800	Active TSS	Fetal Intestine Small	intestine
46	chr11:36616000-36616800	Active TSS	Placenta	Placenta
47	chr11:36616000-36616800	Active TSS	Ovary	ovary
48	chr11:36616000-36616800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr11:36616000-36616800	Active TSS	Rectal Smooth Muscle	rectum
50	chr11:36616000-36616800	Active TSS	GM12878-XiMat	blood

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