Variant report

Variant	rs41320947
Chromosome Location	chr2:46987544-46987545
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	chr2:46924903..46927573-chr2:46987073..46989521,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10495938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889273	0.91[AFR][1000 genomes]
rs11892177	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11892710	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11893159	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11893443	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893955	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11901688	1.00[ASN][1000 genomes]
rs17771005	0.81[AFR][1000 genomes]
rs17771237	0.84[AFR][1000 genomes]
rs17771255	0.84[AFR][1000 genomes]
rs17771357	0.82[AFR][1000 genomes]
rs17772309	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17821941	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17822668	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17822704	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41349351	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41363351	0.87[AMR][1000 genomes]
rs41370847	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41375646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41379147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41432848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41478946	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4575769	0.89[AFR][1000 genomes]
rs62134765	0.93[AFR][1000 genomes]
rs6721999	0.88[ASN][1000 genomes]
rs6731970	0.81[AFR][1000 genomes]
rs6749450	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72802460	0.87[AFR][1000 genomes]
rs7591613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606134	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9677272	0.87[AFR][1000 genomes]
rs9677705	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv961404	chr2:46985967-46989160	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
4	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
9	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
12	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
14	chr2:46981600-46988200	Weak transcription	HMEC	breast
15	chr2:46981600-46988400	Weak transcription	NHEK	skin
16	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
17	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:46983200-46990400	Strong transcription	Osteobl	bone
19	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
22	chr2:46984800-46987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:46985200-46987600	Strong transcription	Primary T cells from cord blood	blood
25	chr2:46985200-46988200	Strong transcription	HepG2	liver
26	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:46985400-46987600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:46985400-46987600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:46985400-46987600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:46985400-46987600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:46985400-46987600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:46985400-46987600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:46985400-46987600	Strong transcription	Fetal Intestine Large	intestine
34	chr2:46985400-46987800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:46985400-46987800	Strong transcription	NH-A	brain
36	chr2:46985400-46988000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:46985400-46988200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:46985400-46988200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:46985400-46988200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:46985600-46987600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:46985600-46987600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:46985600-46988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:46985800-46987600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:46985800-46987600	Strong transcription	Primary B cells from cord blood	blood
47	chr2:46986000-46987600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:46986000-46987600	Strong transcription	HSMM	muscle
49	chr2:46986200-46987600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:46986600-46988200	Strong transcription	Brain Inferior Temporal Lobe	brain

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