Variant report

Variant	rs60795438
Chromosome Location	chr11:58886184-58886185
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	chr11:58884380..58886693-chr11:58887312..58889287,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1048374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229802	0.96[ASN][1000 genomes]
rs11229810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229832	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229835	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229836	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229838	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229841	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229842	1.00[EUR][1000 genomes]
rs11229843	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229844	1.00[EUR][1000 genomes]
rs11229845	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229847	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12221768	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12222675	1.00[EUR][1000 genomes]
rs12223085	0.82[AFR][1000 genomes]
rs12223473	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225532	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12225972	0.82[AFR][1000 genomes]
rs17153381	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2154627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35732637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57969871	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58277547	0.82[AFR][1000 genomes]
rs60519524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60883299	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv469559	chr11:58730785-58887639	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv482906	chr11:58730785-58887639	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv471671	chr11:58730786-58887639	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2757447	chr11:58746238-58906018	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv975329	chr11:58767290-58907813	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv468578	chr11:58790628-58901763	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv555147	chr11:58790628-58901763	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58875200-58909600	Weak transcription	Stomach Mucosa	stomach
2	chr11:58875400-58909600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:58876000-58886400	Weak transcription	HSMM	muscle
4	chr11:58876000-58888000	Weak transcription	Fetal Kidney	kidney
5	chr11:58876200-58891800	Weak transcription	Fetal Heart	heart
6	chr11:58876200-58892000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:58880400-58887000	ZNF genes & repeats	GM12878-XiMat	blood
8	chr11:58880800-58894800	ZNF genes & repeats	Dnd41	blood
9	chr11:58881600-58903600	Weak transcription	Hela-S3	cervix
10	chr11:58883400-58886800	ZNF genes & repeats	Fetal Stomach	stomach
11	chr11:58883400-58887000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr11:58883400-58887000	ZNF genes & repeats	Thymus	Thymus
13	chr11:58883800-58886600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:58884000-58886400	ZNF genes & repeats	Fetal Thymus	thymus
15	chr11:58884000-58887000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:58884000-58887000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:58884000-58887000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr11:58884000-58887000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr11:58884000-58887200	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr11:58884000-58888400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:58884000-58888400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr11:58884000-58889000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr11:58884000-58890800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:58884000-58894800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:58884200-58886200	Weak transcription	NH-A	brain
26	chr11:58884200-58887000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:58884200-58887000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:58884200-58887000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
29	chr11:58884400-58886200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr11:58884400-58886800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:58884400-58887000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr11:58884400-58887200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr11:58884400-58887200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr11:58884600-58887000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr11:58884600-58887000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:58884600-58887000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:58884600-58887000	ZNF genes & repeats	Fetal Lung	lung
38	chr11:58884600-58887200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:58884600-58888800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr11:58884800-58886800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:58884800-58887000	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr11:58885000-58886800	ZNF genes & repeats	NHDF-Ad	bronchial
43	chr11:58885000-58887000	ZNF genes & repeats	HMEC	breast
44	chr11:58885200-58891600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:58885400-58887000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr11:58885600-58886400	Weak transcription	A549	lung
47	chr11:58885800-58886200	Weak transcription	HUVEC	blood vessel
48	chr11:58885800-58886600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:58885800-58887000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:58886000-58886600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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