Variant report

Variant	rs61914729
Chromosome Location	chr11:48085848-48085849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10501322	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];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[EUR][1000 genomes]
rs12289583	1.00[EUR][1000 genomes]
rs1566735	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1569171	1.00[EUR][1000 genomes]
rs17727563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17727629	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17727725	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17789481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17789547	0.90[EUR][1000 genomes]
rs17789571	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17789583	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55670897	1.00[EUR][1000 genomes]
rs55708971	1.00[AFR][1000 genomes]
rs55709369	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56143324	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56817081	1.00[EUR][1000 genomes]
rs57066976	1.00[EUR][1000 genomes]
rs61914720	1.00[EUR][1000 genomes]
rs61914721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914722	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61914723	1.00[EUR][1000 genomes]
rs61914725	1.00[EUR][1000 genomes]
rs61914726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914727	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61914730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914736	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61914739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914740	0.90[EUR][1000 genomes]
rs61915869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61915875	0.90[EUR][1000 genomes]
rs61915876	0.90[EUR][1000 genomes]
rs61915877	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915878	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915879	0.90[EUR][1000 genomes]
rs61915880	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915881	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915882	0.90[EUR][1000 genomes]
rs61915883	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915913	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915914	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915915	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61915918	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7106202	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7111553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48077400-48088600	Weak transcription	Right Atrium	heart
2	chr11:48077800-48088800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:48078000-48086000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr11:48078200-48090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:48078600-48086400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:48078600-48088600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:48078800-48093000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:48079200-48088800	Weak transcription	Esophagus	oesophagus
9	chr11:48079200-48102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:48080000-48086000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:48080600-48100800	Weak transcription	Spleen	Spleen
12	chr11:48081200-48094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:48081600-48097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:48081800-48101600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:48082000-48096000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:48082200-48086000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:48082200-48087600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:48082200-48088600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:48082400-48086000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:48082400-48086600	Enhancers	Placenta	Placenta
21	chr11:48083200-48088200	Weak transcription	Gastric	stomach
22	chr11:48083200-48088600	Weak transcription	Lung	lung
23	chr11:48083400-48086000	Enhancers	K562	blood
24	chr11:48083400-48087600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:48083400-48088200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:48083400-48088400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:48083600-48086600	Enhancers	Fetal Muscle Leg	muscle
28	chr11:48084000-48086200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:48084000-48089200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:48084000-48090200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:48084200-48086000	Enhancers	Primary B cells from cord blood	blood
32	chr11:48084200-48086000	Enhancers	Fetal Heart	heart
33	chr11:48084200-48086000	Enhancers	Fetal Kidney	kidney
34	chr11:48084200-48086400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:48084200-48086400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:48084200-48089800	Enhancers	Brain Hippocampus Middle	brain
37	chr11:48084400-48086200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:48084400-48086200	Enhancers	Liver	Liver
39	chr11:48084400-48087000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:48084800-48086000	Enhancers	Brain Angular Gyrus	brain
41	chr11:48084800-48086200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:48084800-48089200	Enhancers	Fetal Stomach	stomach
43	chr11:48085000-48086000	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:48085000-48086000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:48085000-48086000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:48085000-48086000	Flanking Active TSS	A549	lung
47	chr11:48085000-48086200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:48085000-48086200	Enhancers	Brain Anterior Caudate	brain
49	chr11:48085000-48086200	Enhancers	Brain Substantia Nigra	brain
50	chr11:48085000-48086200	Enhancers	Fetal Lung	lung

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