Variant report

Variant	rs60977329
Chromosome Location	chr6:37865283-37865284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37863569..37866168-chr6:37867163..37869619,2	K562	blood:
2	chr6:37858734..37860389-chr6:37862492..37865486,2	MCF-7	breast:
3	chr6:37829312..37832098-chr6:37865008..37867935,3	MCF-7	breast:
4	chr6:37862675..37865303-chr6:37870950..37872525,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11544071	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11753390	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11753809	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11755262	0.85[ASN][1000 genomes]
rs11755592	0.90[EUR][1000 genomes]
rs11757086	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757622	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11757695	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759754	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16890175	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17512095	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641690	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648097	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648426	0.88[EUR][1000 genomes]
rs17648634	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648699	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2036124	0.90[EUR][1000 genomes]
rs55753048	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093219	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56100831	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56136126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57416513	1.00[ASN][1000 genomes]
rs59810748	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60672298	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60943435	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61125348	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61521259	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61705055	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67979687	0.93[ASN][1000 genomes]
rs68148876	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6909008	0.93[ASN][1000 genomes]
rs6910601	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[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];0.90[EUR][1000 genomes]
rs72849341	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72849350	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849354	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849359	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72849369	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850831	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850855	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850856	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850871	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850884	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72850893	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72852516	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72852536	0.85[ASN][1000 genomes]
rs7739801	0.87[EUR][1000 genomes]
rs7747199	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756261	0.87[EUR][1000 genomes]
rs7767466	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994530	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37850600-37865800	Weak transcription	HSMMtube	muscle
2	chr6:37850600-37869200	Weak transcription	Lung	lung
3	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
4	chr6:37851000-37866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:37851000-37868800	Weak transcription	Ovary	ovary
6	chr6:37851000-37869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:37856000-37871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:37857200-37871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:37857200-37871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:37857200-37871400	Weak transcription	Aorta	Aorta
12	chr6:37857400-37871800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:37857600-37871800	Weak transcription	Right Atrium	heart
14	chr6:37857600-37871800	Weak transcription	Stomach Mucosa	stomach
15	chr6:37857600-37872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:37857600-37886000	Weak transcription	Esophagus	oesophagus
17	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
18	chr6:37858000-37877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:37858200-37869400	Weak transcription	Left Ventricle	heart
20	chr6:37858200-37871200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:37861200-37865400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:37862000-37871800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:37862000-37877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:37862400-37865400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:37862400-37877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:37862400-37884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:37862600-37868800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:37862600-37871800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:37862600-37882000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:37862800-37871200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:37862800-37879000	Weak transcription	GM12878-XiMat	blood
32	chr6:37863800-37865400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:37863800-37865400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:37863800-37865400	Enhancers	Osteobl	bone
35	chr6:37863800-37871200	Weak transcription	Liver	Liver
36	chr6:37864000-37865400	Enhancers	A549	lung
37	chr6:37864400-37865600	Enhancers	Psoas Muscle	Psoas
38	chr6:37864400-37866200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:37864400-37866200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr6:37864400-37866200	Enhancers	NH-A	brain
41	chr6:37864600-37865800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:37864600-37866200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:37864600-37866200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:37864600-37871200	Weak transcription	Small Intestine	intestine
45	chr6:37864600-37880800	Weak transcription	NHDF-Ad	bronchial
46	chr6:37864800-37865800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:37864800-37871000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:37865000-37865400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:37865000-37865400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:37865000-37865400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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