Variant report

Variant	rs6546041
Chromosome Location	chr2:64199731-64199732
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64198229..64200960-chr2:64202925..64205007,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10168446	0.95[ASN][1000 genomes]
rs10199273	0.93[ASN][1000 genomes]
rs11125987	0.93[ASN][1000 genomes]
rs11682249	0.98[ASN][1000 genomes]
rs11692514	0.92[ASN][1000 genomes]
rs12991346	0.90[ASN][1000 genomes]
rs13014371	0.95[ASN][1000 genomes]
rs13021953	0.96[ASN][1000 genomes]
rs13023231	0.95[ASN][1000 genomes]
rs13034625	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1421093	1.00[ASN][1000 genomes]
rs1440003	0.91[ASN][1000 genomes]
rs329479	0.84[ASN][1000 genomes]
rs329480	0.91[ASN][1000 genomes]
rs329489	0.90[ASN][1000 genomes]
rs34506208	0.96[ASN][1000 genomes]
rs34688719	0.99[ASN][1000 genomes]
rs4616468	0.91[ASN][1000 genomes]
rs6546031	0.87[ASN][1000 genomes]
rs6546036	0.83[ASN][1000 genomes]
rs67247064	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6758381	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6759483	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
3	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
4	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
7	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
8	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
9	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
11	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:64166800-64202600	Weak transcription	HMEC	breast
13	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
14	chr2:64168600-64202600	Weak transcription	K562	blood
15	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
16	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
17	chr2:64173600-64202800	Weak transcription	Fetal Brain Female	brain
18	chr2:64175200-64203000	Weak transcription	Thymus	Thymus
19	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:64175800-64202800	Weak transcription	Gastric	stomach
21	chr2:64176000-64202600	Weak transcription	Lung	lung
22	chr2:64176000-64204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:64176200-64205400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:64176400-64205000	Weak transcription	Brain Germinal Matrix	brain
26	chr2:64177600-64200800	Weak transcription	Fetal Kidney	kidney
27	chr2:64177600-64204600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:64177600-64212600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:64178200-64211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:64178800-64202200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:64178800-64202600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:64179200-64202600	Weak transcription	Ovary	ovary
33	chr2:64183800-64204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:64184000-64205200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:64185600-64203800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:64186800-64216200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:64187600-64201800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:64187600-64202800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:64187600-64203200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:64187600-64210200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:64187600-64211400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:64187800-64210200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:64187800-64211200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:64188000-64200000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:64188000-64210000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:64189000-64200000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:64189600-64199800	Weak transcription	Fetal Intestine Large	intestine
49	chr2:64189600-64204800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:64189800-64204800	Weak transcription	A549	lung

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