Variant report

Variant	rs72978977
Chromosome Location	chr11:104836837-104836838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1801319	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45504692	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45530635	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45569135	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55634858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55651735	0.94[EUR][1000 genomes]
rs55721600	0.94[EUR][1000 genomes]
rs55725142	0.94[EUR][1000 genomes]
rs55781362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932228	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011093	0.94[EUR][1000 genomes]
rs56043157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349036	0.94[EUR][1000 genomes]
rs57760571	0.94[EUR][1000 genomes]
rs59367529	0.94[EUR][1000 genomes]
rs59580775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59769457	0.94[EUR][1000 genomes]
rs7104993	0.94[EUR][1000 genomes]
rs7116603	0.94[EUR][1000 genomes]
rs7131099	0.94[EUR][1000 genomes]
rs72978960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978981	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978997	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978998	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7941702	0.86[AMR][1000 genomes];0.94[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	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv898356	chr11:104779195-104838471	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104813800-104837200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:104814000-104838200	Weak transcription	Fetal Kidney	kidney
3	chr11:104817800-104837000	Weak transcription	Right Ventricle	heart
4	chr11:104821800-104837400	Weak transcription	HSMMtube	muscle
5	chr11:104825400-104837400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:104825400-104838200	Weak transcription	HSMM	muscle
7	chr11:104829400-104837200	Weak transcription	GM12878-XiMat	blood
8	chr11:104831600-104837000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr11:104832000-104837200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:104832200-104837400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:104832600-104837200	Weak transcription	Ovary	ovary
12	chr11:104832800-104837200	Weak transcription	Osteobl	bone
13	chr11:104833400-104838400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:104833400-104838400	Weak transcription	Fetal Stomach	stomach
15	chr11:104834000-104837200	ZNF genes & repeats	Dnd41	blood
16	chr11:104834600-104837000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:104834600-104838200	Weak transcription	Fetal Thymus	thymus
18	chr11:104834600-104839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:104834800-104838200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:104835400-104837200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:104835600-104837200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:104835800-104837400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:104835800-104837800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:104836000-104837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:104836000-104837200	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr11:104836000-104837200	Enhancers	Liver	Liver
27	chr11:104836000-104837400	Enhancers	NHDF-Ad	bronchial
28	chr11:104836000-104837600	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr11:104836000-104837600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:104836000-104837600	Enhancers	Gastric	stomach
31	chr11:104836000-104837600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:104836000-104837600	Enhancers	Small Intestine	intestine
33	chr11:104836000-104837600	Enhancers	Spleen	Spleen
34	chr11:104836000-104837600	Flanking Active TSS	NHEK	skin
35	chr11:104836000-104838800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:104836200-104837200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:104836200-104837600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:104836200-104837600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:104836200-104837800	Flanking Active TSS	HMEC	breast
40	chr11:104836400-104837200	Enhancers	Adipose Nuclei	Adipose
41	chr11:104836400-104837200	Active TSS	Placenta	Placenta
42	chr11:104836400-104837200	Enhancers	Pancreas	Pancrea
43	chr11:104836400-104837600	Enhancers	Stomach Mucosa	stomach
44	chr11:104836400-104837600	Flanking Active TSS	Hela-S3	cervix
45	chr11:104836400-104839600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:104836600-104837000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:104836600-104837000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:104836600-104837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:104836600-104837000	Active TSS	NHLF	lung
50	chr11:104836600-104837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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