Variant report

Variant	rs683338
Chromosome Location	chr11:65141885-65141886
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	chr11:65139965..65142607-chr11:65283194..65285787,3	K562	blood:
2	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:

Variant related genes	Relation type
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1194336	0.83[AMR][1000 genomes]
rs12795699	0.83[AMR][1000 genomes]
rs1784102	0.83[AMR][1000 genomes]
rs2957264	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472852	0.83[AMR][1000 genomes]
rs557777	1.00[AMR][1000 genomes]
rs590601	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs624307	1.00[MKK][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65123400-65143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:65123600-65143800	Weak transcription	Thymus	Thymus
3	chr11:65127200-65143800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:65130400-65142600	Weak transcription	Primary T cells from cord blood	blood
5	chr11:65134200-65144400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:65134200-65144600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:65134200-65144800	Weak transcription	Spleen	Spleen
8	chr11:65134200-65145400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65134200-65146400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:65134200-65147200	Weak transcription	Fetal Thymus	thymus
11	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:65134400-65142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:65134400-65144800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:65134400-65145400	Weak transcription	Placenta	Placenta
16	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:65134600-65142600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:65134600-65145200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:65135600-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:65136800-65142000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:65138200-65146200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:65138600-65143200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:65138600-65143800	Weak transcription	Gastric	stomach
24	chr11:65138800-65144200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:65138800-65147200	Weak transcription	Lung	lung
26	chr11:65138800-65147600	Weak transcription	Right Ventricle	heart
27	chr11:65138800-65149400	Weak transcription	Aorta	Aorta
28	chr11:65139000-65142600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:65139000-65145000	Weak transcription	GM12878-XiMat	blood
30	chr11:65139200-65142400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:65139200-65142400	Weak transcription	HMEC	breast
32	chr11:65139200-65142400	Weak transcription	NHEK	skin
33	chr11:65139200-65142800	Weak transcription	A549	lung
34	chr11:65139200-65145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:65139200-65145600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr11:65139200-65146600	Weak transcription	HSMMtube	muscle
37	chr11:65139200-65148200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:65139400-65142400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:65139400-65144800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:65139400-65147800	Weak transcription	Psoas Muscle	Psoas
41	chr11:65139400-65148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:65139800-65142600	Weak transcription	Fetal Intestine Large	intestine
43	chr11:65139800-65143800	Enhancers	Pancreas	Pancrea
44	chr11:65140000-65142400	Strong transcription	Fetal Intestine Small	intestine
45	chr11:65140000-65146000	Weak transcription	Liver	Liver
46	chr11:65140000-65148400	Weak transcription	K562	blood
47	chr11:65140000-65149200	Weak transcription	HSMM	muscle
48	chr11:65140400-65145600	Weak transcription	Hela-S3	cervix
49	chr11:65140400-65149200	Weak transcription	Right Atrium	heart
50	chr11:65141000-65149200	Weak transcription	Brain Cingulate Gyrus	brain

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