Variant report

Variant	rs61914725
Chromosome Location	chr11:48080658-48080659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48072810..48075370-chr11:48080373..48082997,2	K562	blood:
2	chr11:48072741..48074310-chr11:48080242..48082997,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10501322	0.90[EUR][1000 genomes]
rs10838796	1.00[EUR][1000 genomes]
rs11039509	1.00[EUR][1000 genomes]
rs11819788	0.90[EUR][1000 genomes]
rs12289488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289583	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1566735	0.90[EUR][1000 genomes]
rs1569171	1.00[EUR][1000 genomes]
rs17727563	0.90[EUR][1000 genomes]
rs17727629	0.90[EUR][1000 genomes]
rs17727725	0.90[EUR][1000 genomes]
rs17789481	0.90[EUR][1000 genomes]
rs17789547	0.90[EUR][1000 genomes]
rs17789571	0.90[EUR][1000 genomes]
rs17789583	0.90[EUR][1000 genomes]
rs55670897	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55709369	0.87[EUR][1000 genomes]
rs56143324	0.90[EUR][1000 genomes]
rs56817081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57066976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914720	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914721	1.00[EUR][1000 genomes]
rs61914722	0.93[EUR][1000 genomes]
rs61914723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914726	1.00[EUR][1000 genomes]
rs61914727	0.93[EUR][1000 genomes]
rs61914729	1.00[EUR][1000 genomes]
rs61914730	1.00[EUR][1000 genomes]
rs61914731	1.00[EUR][1000 genomes]
rs61914732	1.00[EUR][1000 genomes]
rs61914733	1.00[EUR][1000 genomes]
rs61914736	0.93[EUR][1000 genomes]
rs61914739	0.90[EUR][1000 genomes]
rs61914740	0.90[EUR][1000 genomes]
rs61915869	0.90[EUR][1000 genomes]
rs61915871	0.90[EUR][1000 genomes]
rs61915872	0.90[EUR][1000 genomes]
rs61915873	0.90[EUR][1000 genomes]
rs61915874	0.93[EUR][1000 genomes]
rs61915875	0.90[EUR][1000 genomes]
rs61915876	0.90[EUR][1000 genomes]
rs61915877	0.90[EUR][1000 genomes]
rs61915878	0.90[EUR][1000 genomes]
rs61915879	0.90[EUR][1000 genomes]
rs61915880	0.90[EUR][1000 genomes]
rs61915881	0.90[EUR][1000 genomes]
rs61915882	0.90[EUR][1000 genomes]
rs61915883	0.90[EUR][1000 genomes]
rs61915913	0.90[EUR][1000 genomes]
rs61915914	0.90[EUR][1000 genomes]
rs61915915	0.90[EUR][1000 genomes]
rs61915918	0.90[EUR][1000 genomes]
rs7106202	0.90[EUR][1000 genomes]
rs7111553	1.00[EUR][1000 genomes]
rs73464876	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
13	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
14	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
15	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
16	nsv897328	chr11:48043053-48901553	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv897329	chr11:48052676-48319974	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1048554	chr11:48062861-48388686	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv1038210	chr11:48068862-48388686	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
20	nsv1052076	chr11:48077864-48702549	ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription 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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48074400-48081200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:48074600-48081800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:48074600-48082400	Weak transcription	Hela-S3	cervix
5	chr11:48074600-48084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:48074600-48085000	Weak transcription	Left Ventricle	heart
7	chr11:48077200-48081000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:48077400-48082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:48077400-48083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:48077400-48085000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:48077400-48085200	Weak transcription	Adipose Nuclei	Adipose
12	chr11:48077400-48088600	Weak transcription	Right Atrium	heart
13	chr11:48077600-48081000	Weak transcription	Pancreas	Pancrea
14	chr11:48077600-48081200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:48077600-48082400	Weak transcription	Placenta	Placenta
16	chr11:48077600-48082800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:48077600-48082800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:48077600-48083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:48077600-48084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:48077800-48081000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:48077800-48081200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:48077800-48082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:48077800-48082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:48077800-48082800	Genic enhancers	A549	lung
25	chr11:48077800-48082800	Weak transcription	NHLF	lung
26	chr11:48077800-48083800	Weak transcription	HSMM	muscle
27	chr11:48077800-48085600	Weak transcription	Fetal Intestine Large	intestine
28	chr11:48077800-48088800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:48078000-48081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:48078000-48081200	Enhancers	GM12878-XiMat	blood
31	chr11:48078000-48081400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr11:48078000-48081600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:48078000-48081800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:48078000-48082400	Weak transcription	Brain Substantia Nigra	brain
35	chr11:48078000-48082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:48078000-48082800	Weak transcription	Osteobl	bone
37	chr11:48078000-48083000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:48078000-48083000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:48078000-48084200	Weak transcription	NHEK	skin
40	chr11:48078000-48086000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:48078200-48081000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:48078200-48081400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:48078200-48082200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:48078200-48083600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:48078200-48084200	Weak transcription	Fetal Kidney	kidney
46	chr11:48078200-48084200	Weak transcription	NH-A	brain
47	chr11:48078200-48085000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:48078200-48085000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:48078200-48090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:48078400-48082000	Weak transcription	Monocytes-CD14+_RO01746	blood

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