Variant report

Variant	rs61629963
Chromosome Location	chr11:48037259-48037260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73462886	0.86[AFR][1000 genomes]
rs73464827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464857	0.83[AMR][1000 genomes]
rs73464865	0.83[AMR][1000 genomes]
rs73464884	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv528641	chr11:48004369-48043053	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48018800-48042000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48025000-48045200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:48026000-48039200	Weak transcription	Fetal Kidney	kidney
4	chr11:48026400-48039200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:48027400-48037600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:48027400-48044000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:48027800-48037600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:48027800-48037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:48027800-48039000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:48028000-48038800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:48028400-48038800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:48028400-48039200	Weak transcription	Fetal Stomach	stomach
13	chr11:48031800-48041000	Weak transcription	K562	blood
14	chr11:48032400-48038400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:48032400-48042600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:48032400-48045200	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:48032600-48041200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:48032600-48042800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:48032800-48042400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr11:48034000-48040200	Weak transcription	Fetal Heart	heart
21	chr11:48034200-48038400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:48034600-48038400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:48034600-48040800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:48034800-48037600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:48034800-48039800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:48035000-48037600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:48035000-48039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:48035200-48037400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:48035200-48037600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:48035200-48037600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:48035200-48038600	Weak transcription	Hela-S3	cervix
32	chr11:48035200-48039000	Weak transcription	Fetal Lung	lung
33	chr11:48035200-48039000	Enhancers	GM12878-XiMat	blood
34	chr11:48035200-48039200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:48035200-48040600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:48035400-48037600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:48035400-48037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:48035400-48037600	Weak transcription	Placenta	Placenta
39	chr11:48035400-48039000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:48035400-48039200	Weak transcription	NHDF-Ad	bronchial
41	chr11:48035400-48039400	Weak transcription	HUVEC	blood vessel
42	chr11:48035400-48039600	Weak transcription	NH-A	brain
43	chr11:48035400-48039800	Weak transcription	Colonic Mucosa	Colon
44	chr11:48035400-48046200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:48035600-48037400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:48035600-48037400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:48035600-48037600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:48035600-48037600	Weak transcription	Brain Anterior Caudate	brain
49	chr11:48035600-48037600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:48035600-48037600	Weak transcription	Brain Substantia Nigra	brain

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