Variant report

Variant	rs331449
Chromosome Location	chr11:36532570-36532571
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	JUN	chr11:36530721-36532607	K562	blood:	n/a	n/a
2	CTCF	chr11:36532440-36532590	AoAF	blood vessel:	n/a	n/a
3	MYC	chr11:36532508-36532666	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:36531465-36532651	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:36532524-36532718	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr11:36532420-36532570	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr11:36531214-36532650	SK-N-SH	brain:	n/a	chr11:36531563-36531581 chr11:36531886-36531904 chr11:36531888-36531901 chr11:36531881-36531902 chr11:36531566-36531579 chr11:36531569-36531582 chr11:36531566-36531584 chr11:36531892-36531901 chr11:36531887-36531903 chr11:36531567-36531583

No.	Distal block	Cell Line	Cell type
1	chr11:36530329..36533204-chr11:36533479..36537074,4	K562	blood:
2	chr11:36530300..36533244-chr11:36535692..36537195,2	MCF-7	breast:
3	chr11:36530765..36533204-chr11:36534006..36537074,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAG1-1	chr11:36532259-36532588	NONHSAT018831

Variant related genes	Relation type
TRAF6	TF binding region
RAG1	TF binding region
ENSG00000166349	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12295535	1.00[MEX][hapmap]
rs1515062	1.00[AMR][1000 genomes]
rs230485	1.00[AMR][1000 genomes]
rs2458930	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs2673018	1.00[AMR][1000 genomes]
rs331431	1.00[AMR][1000 genomes]
rs331438	1.00[AMR][1000 genomes]
rs331451	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs331452	1.00[AMR][1000 genomes]
rs331456	1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs331458	1.00[AMR][1000 genomes]
rs331461	1.00[AMR][1000 genomes]
rs331473	1.00[AMR][1000 genomes]
rs331475	1.00[AMR][1000 genomes]
rs35691292	1.00[GIH][hapmap]
rs4756327	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs496289	0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs505296	0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs510479	1.00[AMR][1000 genomes]
rs520074	0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs6484862	0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs692743	1.00[AMR][1000 genomes]
rs693068	1.00[AMR][1000 genomes]
rs7125448	1.00[AMR][1000 genomes]
rs962353	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

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	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36529600-36532600	Active TSS	Right Ventricle	heart
2	chr11:36529800-36532600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:36529800-36532600	Active TSS	Fetal Intestine Large	intestine
4	chr11:36529800-36532600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr11:36530000-36532600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:36530000-36532600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:36530000-36532800	Active TSS	K562	blood
8	chr11:36530200-36532600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:36530200-36532600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:36530200-36532600	Active TSS	Fetal Muscle Trunk	muscle
11	chr11:36530200-36532800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:36530400-36532600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:36530400-36532600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:36530400-36532600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:36530400-36532600	Active TSS	Brain Angular Gyrus	brain
16	chr11:36530400-36532600	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:36530400-36532600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:36530400-36532600	Active TSS	Colon Smooth Muscle	Colon
19	chr11:36530400-36532600	Active TSS	A549	lung
20	chr11:36530600-36532600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:36530600-36532600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:36530600-36532600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:36530600-36532600	Active TSS	Brain Hippocampus Middle	brain
24	chr11:36530600-36532600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:36530600-36532600	Active TSS	Colonic Mucosa	Colon
26	chr11:36530600-36532600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:36530600-36532600	Active TSS	Fetal Kidney	kidney
28	chr11:36530600-36532600	Active TSS	Pancreas	Pancrea
29	chr11:36530600-36532600	Active TSS	Stomach Mucosa	stomach
30	chr11:36530600-36532800	Active TSS	NHEK	skin
31	chr11:36530800-36532600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:36530800-36532600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:36530800-36532600	Active TSS	Fetal Lung	lung
34	chr11:36531000-36532600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr11:36531000-36532600	Active TSS	Fetal Muscle Leg	muscle
36	chr11:36531000-36532600	Active TSS	Thymus	Thymus
37	chr11:36531800-36532600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr11:36532000-36532600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:36532000-36532600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr11:36532000-36532600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr11:36532000-36532600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:36532000-36532600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr11:36532000-36532600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:36532000-36532600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:36532000-36532600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr11:36532000-36532600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:36532000-36532600	Flanking Active TSS	Liver	Liver
48	chr11:36532000-36532600	Active TSS	Right Atrium	heart
49	chr11:36532000-36532600	Flanking Active TSS	Dnd41	blood
50	chr11:36532000-36532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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