Variant report

Variant	rs948359
Chromosome Location	chr11:66107950-66107951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66056885..66058669-chr11:66106452..66107991,2	K562	blood:
2	chr11:66048984..66050928-chr11:66106089..66108288,2	MCF-7	breast:
3	chr11:66092468..66094191-chr11:66107437..66109172,2	K562	blood:
4	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

Variant related genes	Relation type
ENSG00000174871	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1344410	0.95[AFR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1785624	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs2292123	0.95[AFR][1000 genomes]
rs3016763	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3867130	1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4930359	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs7104297	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7111197	0.91[AFR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv3328878	chr11:66107076-66111474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66098400-66108800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:66104200-66109000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:66104400-66110400	Strong transcription	Dnd41	blood
4	chr11:66104600-66108200	Weak transcription	Stomach Mucosa	stomach
5	chr11:66104600-66109000	Weak transcription	Fetal Kidney	kidney
6	chr11:66104600-66109800	Strong transcription	Colonic Mucosa	Colon
7	chr11:66104600-66109800	Strong transcription	Lung	lung
8	chr11:66104600-66110000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:66104600-66110400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:66104600-66110400	Strong transcription	Fetal Intestine Large	intestine
11	chr11:66104600-66110400	Strong transcription	Right Ventricle	heart
12	chr11:66104600-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:66104600-66111600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:66104800-66108800	Strong transcription	Gastric	stomach
15	chr11:66104800-66109600	Strong transcription	Brain Substantia Nigra	brain
16	chr11:66104800-66109600	Strong transcription	Rectal Smooth Muscle	rectum
17	chr11:66104800-66109800	Strong transcription	Left Ventricle	heart
18	chr11:66104800-66110000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:66104800-66110000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:66104800-66110000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:66104800-66110400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:66104800-66110800	Strong transcription	Adipose Nuclei	Adipose
23	chr11:66104800-66110800	Strong transcription	Brain Cingulate Gyrus	brain
24	chr11:66104800-66110800	Weak transcription	Psoas Muscle	Psoas
25	chr11:66104800-66111000	Strong transcription	Primary T cells from cord blood	blood
26	chr11:66104800-66111200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:66104800-66111200	Strong transcription	Placenta	Placenta
28	chr11:66105000-66109000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:66105000-66109600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:66105000-66109800	Strong transcription	Liver	Liver
31	chr11:66105000-66110000	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr11:66105000-66110000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:66105000-66110400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:66105000-66110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:66105000-66111000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:66105000-66111000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:66105000-66111200	Strong transcription	Fetal Intestine Small	intestine
38	chr11:66105200-66109800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:66105200-66110000	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:66105200-66110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:66105200-66110400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:66105200-66110600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:66105200-66110800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr11:66105200-66110800	Strong transcription	Brain Germinal Matrix	brain
45	chr11:66105200-66110800	Strong transcription	Fetal Stomach	stomach
46	chr11:66105200-66111000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:66105200-66111000	Strong transcription	Fetal Thymus	thymus
48	chr11:66105200-66111000	Strong transcription	Thymus	Thymus
49	chr11:66105200-66111200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:66105400-66108000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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