Variant report

Variant	rs11692514
Chromosome Location	chr2:64227826-64227827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64226896..64229641-chr2:64246459..64249027,4	K562	blood:
2	chr2:64227637..64233066-chr2:64233431..64237218,6	K562	blood:
3	chr2:64225373..64227940-chr2:64228601..64231174,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10168446	0.90[ASN][1000 genomes]
rs10199273	0.87[ASN][1000 genomes]
rs11125987	0.87[ASN][1000 genomes]
rs11682249	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12464534	0.82[ASN][1000 genomes]
rs12988868	0.83[ASN][1000 genomes]
rs12991346	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13014371	0.94[ASN][1000 genomes]
rs13021953	0.93[ASN][1000 genomes]
rs13023231	0.92[ASN][1000 genomes]
rs13034625	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1421093	0.92[ASN][1000 genomes]
rs1440003	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329479	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs329480	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs329487	0.82[ASN][1000 genomes]
rs329489	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329490	0.81[ASN][1000 genomes]
rs34506208	0.93[ASN][1000 genomes]
rs34688719	0.91[ASN][1000 genomes]
rs4616468	0.83[ASN][1000 genomes]
rs6546031	0.82[ASN][1000 genomes]
rs6546041	0.92[ASN][1000 genomes]
rs67247064	0.91[ASN][1000 genomes]
rs6755041	0.82[ASN][1000 genomes]
rs6758381	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6759483	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:64194000-64243200	Weak transcription	NHLF	lung
5	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
6	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:64203400-64228000	Weak transcription	Ovary	ovary
9	chr2:64205600-64228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:64209400-64244800	Weak transcription	HSMM	muscle
12	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:64212800-64228400	Weak transcription	NHEK	skin
14	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
15	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
16	chr2:64219400-64238400	Weak transcription	Gastric	stomach
17	chr2:64221000-64228000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:64221400-64228600	Weak transcription	Thymus	Thymus
19	chr2:64222400-64228600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:64222400-64230800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:64222600-64228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:64223600-64235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:64224800-64232600	Weak transcription	A549	lung
26	chr2:64224800-64233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:64225400-64228000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:64225400-64242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:64225800-64228000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:64225800-64230400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:64225800-64237000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:64225800-64242600	Weak transcription	Fetal Kidney	kidney
33	chr2:64226000-64228800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:64226200-64231400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:64226400-64228000	Weak transcription	Spleen	Spleen
40	chr2:64226400-64228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:64226600-64228200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:64226600-64228400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:64226600-64242400	Weak transcription	Primary B cells from cord blood	blood
44	chr2:64226600-64242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:64226800-64228000	Weak transcription	Primary T cells from cord blood	blood
46	chr2:64226800-64242600	Weak transcription	Small Intestine	intestine
47	chr2:64227000-64229400	Enhancers	Pancreas	Pancrea
48	chr2:64227000-64229400	Enhancers	Right Atrium	heart
49	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
50	chr2:64227200-64228000	Weak transcription	Fetal Intestine Large	intestine

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