Variant report

Variant	rs678917
Chromosome Location	chr11:68255995-68255996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10736668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10750828	1.00[AMR][1000 genomes]
rs2509524	1.00[AMR][1000 genomes]
rs2510369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2510409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2513301	1.00[AFR][1000 genomes]
rs2513302	1.00[AFR][1000 genomes]
rs34895243	1.00[AFR][1000 genomes]
rs4930231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930232	1.00[AFR][1000 genomes]
rs542995	1.00[AMR][1000 genomes]
rs569430	1.00[AMR][1000 genomes]
rs588578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs630456	1.00[AMR][1000 genomes]
rs640678	1.00[AFR][1000 genomes]
rs662856	1.00[AMR][1000 genomes]
rs693747	1.00[AMR][1000 genomes]
rs7107592	1.00[AMR][1000 genomes]
rs7948045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948864	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking 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	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238200-68264800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:68240000-68269800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:68240400-68262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:68240400-68262200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:68240800-68262200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:68241200-68259400	Weak transcription	Thymus	Thymus
8	chr11:68241200-68264800	Weak transcription	K562	blood
9	chr11:68242000-68266000	Weak transcription	Hela-S3	cervix
10	chr11:68245000-68256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:68245000-68264800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:68246800-68266600	Weak transcription	Fetal Thymus	thymus
13	chr11:68247000-68270800	Weak transcription	Dnd41	blood
14	chr11:68247400-68256000	Weak transcription	Aorta	Aorta
15	chr11:68247400-68257200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:68247400-68264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:68248800-68266000	Weak transcription	HSMM	muscle
18	chr11:68249000-68256600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:68249000-68258200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:68249000-68265400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:68249000-68270000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:68249200-68256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:68249200-68258000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:68249200-68262400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:68249400-68256000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:68249400-68256000	Weak transcription	Colonic Mucosa	Colon
27	chr11:68249400-68256000	Weak transcription	Spleen	Spleen
28	chr11:68249400-68258600	Weak transcription	Small Intestine	intestine
29	chr11:68249400-68263400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:68249400-68270800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:68249600-68256000	Weak transcription	Gastric	stomach
32	chr11:68249600-68256000	Weak transcription	HMEC	breast
33	chr11:68249600-68257600	Weak transcription	Stomach Mucosa	stomach
34	chr11:68249600-68259800	Weak transcription	Right Ventricle	heart
35	chr11:68249600-68262000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:68249600-68262800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:68249600-68265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:68249600-68265800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:68250200-68256200	Weak transcription	Adipose Nuclei	Adipose
40	chr11:68251000-68262400	Weak transcription	HepG2	liver
41	chr11:68252000-68256000	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:68252000-68262600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:68252200-68256600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:68252600-68260800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:68252800-68258400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:68252800-68260600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:68252800-68260800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:68252800-68261000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:68253000-68261200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:68253200-68256400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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