Variant report

Variant	rs57458798
Chromosome Location	chr11:66269050-66269051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11821143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822113	0.85[AFR][1000 genomes]
rs11826683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828370	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12099209	1.00[AMR][1000 genomes]
rs28441671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637515	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28640072	1.00[AMR][1000 genomes]
rs28672995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687888	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56039471	1.00[AMR][1000 genomes]
rs57814854	1.00[AMR][1000 genomes]
rs57925533	1.00[AMR][1000 genomes]
rs58024886	1.00[AMR][1000 genomes]
rs58149913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61303821	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61610137	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
3	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
4	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
5	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:66248800-66277600	Weak transcription	K562	blood
7	chr11:66249800-66273200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:66251200-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:66251800-66274600	Strong transcription	Fetal Stomach	stomach
10	chr11:66254400-66272600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:66255800-66277800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:66259000-66269200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66259600-66270600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:66259600-66277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:66261000-66271800	Weak transcription	Left Ventricle	heart
16	chr11:66261000-66272000	Weak transcription	HUVEC	blood vessel
17	chr11:66261000-66272600	Weak transcription	HSMM	muscle
18	chr11:66261000-66277800	Weak transcription	Psoas Muscle	Psoas
19	chr11:66261200-66271800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:66261200-66272400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:66261200-66277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:66261200-66278000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:66261600-66277600	Weak transcription	Stomach Mucosa	stomach
24	chr11:66261800-66272400	Weak transcription	HepG2	liver
25	chr11:66261800-66277800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:66262400-66277600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:66263400-66271800	Weak transcription	Right Ventricle	heart
28	chr11:66263400-66272200	Weak transcription	A549	lung
29	chr11:66263600-66272200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:66263600-66272800	Weak transcription	GM12878-XiMat	blood
31	chr11:66263600-66277800	Weak transcription	NH-A	brain
32	chr11:66263800-66271200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:66264600-66278000	Weak transcription	HMEC	breast
34	chr11:66264800-66270800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:66264800-66277600	Weak transcription	Hela-S3	cervix
36	chr11:66264800-66277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:66264800-66277800	Weak transcription	Osteobl	bone
38	chr11:66265000-66272000	Weak transcription	Ovary	ovary
39	chr11:66265000-66272000	Weak transcription	NHLF	lung
40	chr11:66265000-66272200	Weak transcription	Aorta	Aorta
41	chr11:66265000-66272400	Weak transcription	Brain Angular Gyrus	brain
42	chr11:66265000-66277800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:66265200-66270800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:66265200-66271400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:66265200-66272000	Weak transcription	Colonic Mucosa	Colon
46	chr11:66265200-66272000	Weak transcription	Gastric	stomach
47	chr11:66265200-66272000	Weak transcription	Pancreas	Pancrea
48	chr11:66265200-66272200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:66265200-66272200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:66265200-66272400	Weak transcription	Brain Substantia Nigra	brain

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