Variant report

Variant	rs683497
Chromosome Location	chr11:77120486-77120487
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	chr11:77120352..77122369-chr11:77122949..77125194,2	K562	blood:
2	chr11:77109982..77113558-chr11:77117392..77121055,3	K562	blood:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10793248	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899379	0.84[ASN][1000 genomes]
rs11607378	0.84[EUR][1000 genomes]
rs1225479	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2007466	0.82[EUR][1000 genomes]
rs2602458	0.85[ASN][1000 genomes]
rs2725812	0.92[EUR][1000 genomes]
rs2725830	0.85[ASN][1000 genomes]
rs2853097	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3015984	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015989	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3015991	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3015993	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019240	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3019243	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019258	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34420077	0.84[EUR][1000 genomes]
rs4433591	0.85[EUR][1000 genomes]
rs473012	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs476925	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs478134	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs478475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs482243	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487322	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs489038	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs491781	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492527	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4944153	0.81[EUR][1000 genomes]
rs4944155	0.84[EUR][1000 genomes]
rs4944158	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4945162	0.83[EUR][1000 genomes]
rs4945166	0.84[EUR][1000 genomes]
rs4945169	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs495889	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs497172	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs497946	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs499880	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs500731	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs514191	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs517511	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs538670	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs539906	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs556696	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs561153	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs562939	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs568309	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57129983	0.84[EUR][1000 genomes]
rs575662	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs576079	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs576997	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584909	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs599437	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs605910	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs614775	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618012	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61901769	0.83[EUR][1000 genomes]
rs61901771	0.81[EUR][1000 genomes]
rs61901802	0.90[EUR][1000 genomes]
rs628325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs635291	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs639857	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6592714	0.81[EUR][1000 genomes]
rs6592715	0.86[EUR][1000 genomes]
rs667331	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs688212	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7118869	0.90[EUR][1000 genomes]
rs7119033	0.85[ASN][1000 genomes]
rs721382	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73496890	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7928731	0.84[EUR][1000 genomes]
rs98703	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats 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 target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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 target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking 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	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
3	chr11:77095400-77121000	Weak transcription	Fetal Thymus	thymus
4	chr11:77098000-77121200	Weak transcription	Placenta	Placenta
5	chr11:77103000-77121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:77103800-77121000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:77103800-77122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:77110400-77121600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:77112200-77121600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:77112800-77121200	Weak transcription	Esophagus	oesophagus
11	chr11:77113800-77122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:77114000-77120600	Weak transcription	Primary B cells from cord blood	blood
13	chr11:77117200-77121400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:77117200-77121600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:77117200-77121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:77117200-77122000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:77117400-77121200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:77117400-77121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:77117400-77122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:77117600-77121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:77117600-77121200	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:77117800-77121000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:77117800-77121200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:77117800-77122200	Weak transcription	Lung	lung
25	chr11:77118600-77121200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:77118800-77121200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:77118800-77121600	Enhancers	NHEK	skin
28	chr11:77118800-77122200	Weak transcription	Psoas Muscle	Psoas
29	chr11:77118800-77122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:77118800-77123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr11:77119000-77120800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:77119000-77121200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:77119000-77121200	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:77119000-77121200	Weak transcription	Fetal Stomach	stomach
35	chr11:77119000-77121200	Weak transcription	Small Intestine	intestine
36	chr11:77119000-77121200	Weak transcription	NHLF	lung
37	chr11:77119000-77122200	Weak transcription	Pancreas	Pancrea
38	chr11:77119200-77120600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:77119200-77121000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:77119200-77121000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:77119200-77121000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:77119200-77121000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:77119200-77121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:77119200-77121000	Weak transcription	Brain Angular Gyrus	brain
45	chr11:77119200-77121000	Weak transcription	Gastric	stomach
46	chr11:77119200-77121200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:77119200-77121200	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:77119200-77121200	Weak transcription	Osteobl	bone
49	chr11:77119200-77121400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:77119200-77121600	Weak transcription	Fetal Brain Female	brain

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