Variant report

Variant	rs61125348
Chromosome Location	chr6:37871453-37871454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37862675..37865303-chr6:37870950..37872525,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11544071	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11753390	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11753809	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11755262	0.85[ASN][1000 genomes]
rs11755592	0.84[EUR][1000 genomes]
rs11757086	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757622	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11757695	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759754	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16890175	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17512095	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641690	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648097	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648426	0.82[EUR][1000 genomes]
rs17648634	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648699	0.85[ASN][1000 genomes]
rs2036124	0.84[EUR][1000 genomes]
rs55753048	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093219	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56100831	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56136126	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57416513	1.00[ASN][1000 genomes]
rs59810748	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60672298	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60943435	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60977329	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61521259	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61705055	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67979687	0.93[ASN][1000 genomes]
rs68148876	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6909008	0.93[ASN][1000 genomes]
rs6910601	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925259	0.85[ASN][1000 genomes]
rs6930340	0.85[ASN][1000 genomes]
rs72849339	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72849341	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72849350	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849354	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849359	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72849369	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850806	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850831	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850855	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850856	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850871	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850893	0.82[EUR][1000 genomes]
rs72852516	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72852536	0.85[ASN][1000 genomes]
rs7739801	0.81[EUR][1000 genomes]
rs7747199	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756261	0.81[EUR][1000 genomes]
rs7767466	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994530	0.81[EUR][1000 genomes];0.85[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:37857400-37871800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:37857600-37871800	Weak transcription	Right Atrium	heart
5	chr6:37857600-37871800	Weak transcription	Stomach Mucosa	stomach
6	chr6:37857600-37872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:37857600-37886000	Weak transcription	Esophagus	oesophagus
8	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
9	chr6:37858000-37877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:37862000-37871800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:37862000-37877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:37862400-37877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:37862400-37884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:37862600-37871800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:37862600-37882000	Weak transcription	Fetal Intestine Small	intestine
16	chr6:37862800-37879000	Weak transcription	GM12878-XiMat	blood
17	chr6:37864600-37880800	Weak transcription	NHDF-Ad	bronchial
18	chr6:37865400-37874000	Weak transcription	NHLF	lung
19	chr6:37865600-37879600	Weak transcription	Thymus	Thymus
20	chr6:37865800-37871800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:37866000-37885600	Weak transcription	Hela-S3	cervix
22	chr6:37866200-37871600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:37866200-37872000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:37866200-37872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:37866200-37873800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:37866200-37873800	Weak transcription	NH-A	brain
27	chr6:37866400-37871800	Weak transcription	HMEC	breast
28	chr6:37866400-37873000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:37868000-37872200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:37869400-37877000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:37869600-37873800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:37869800-37871800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:37870200-37877200	Weak transcription	Left Ventricle	heart
34	chr6:37870400-37873000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:37870600-37872600	Enhancers	HepG2	liver
36	chr6:37870800-37872200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:37870800-37873000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:37870800-37873800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:37871000-37872000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:37871000-37874800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:37871200-37871600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:37871200-37871600	Enhancers	Liver	Liver
43	chr6:37871200-37871800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:37871200-37872000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr6:37871200-37872000	Enhancers	Small Intestine	intestine
46	chr6:37871200-37872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:37871200-37872200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:37871200-37872200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:37871200-37872200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr6:37871200-37872200	Enhancers	Fetal Lung	lung

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