Variant report

Variant	rs57050291
Chromosome Location	chr6:106648601-106648602
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	chr6:106636057..106638777-chr6:106646225..106649180,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12110796	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12664702	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2791119	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478310	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs501804	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs511472	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520296	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs538557	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59800435	0.83[EUR][1000 genomes]
rs600076	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs605457	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627484	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs632686	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs656994	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs672070	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676090	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676640	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs710088	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs710089	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs710090	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs710091	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9372119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9373838	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9373840	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386521	0.80[ASN][1000 genomes]
rs9398076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9398077	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS 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 target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106612400-106662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:106616400-106654200	Weak transcription	Aorta	Aorta
3	chr6:106625800-106651800	Weak transcription	Esophagus	oesophagus
4	chr6:106625800-106652800	Weak transcription	Brain Germinal Matrix	brain
5	chr6:106626800-106674800	Weak transcription	K562	blood
6	chr6:106628000-106659200	Weak transcription	HepG2	liver
7	chr6:106628400-106675200	Weak transcription	Stomach Mucosa	stomach
8	chr6:106628800-106671200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:106629800-106652000	Weak transcription	Placenta	Placenta
10	chr6:106630000-106654600	Weak transcription	Hela-S3	cervix
11	chr6:106630600-106654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:106630800-106651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:106631400-106652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:106632000-106664600	Weak transcription	Psoas Muscle	Psoas
15	chr6:106632200-106659400	Weak transcription	Right Ventricle	heart
16	chr6:106632400-106649600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:106632800-106650400	Weak transcription	Fetal Stomach	stomach
18	chr6:106633000-106650200	Weak transcription	Gastric	stomach
19	chr6:106633400-106650600	Weak transcription	Brain Substantia Nigra	brain
20	chr6:106633400-106662000	Weak transcription	Fetal Lung	lung
21	chr6:106634400-106650400	Weak transcription	Lung	lung
22	chr6:106634400-106654800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:106634400-106657000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:106634600-106650200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:106634600-106653400	Weak transcription	Fetal Intestine Large	intestine
26	chr6:106635800-106650400	Weak transcription	A549	lung
27	chr6:106635800-106653000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:106636400-106649000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:106636800-106656800	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:106643400-106649000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:106643400-106650000	Weak transcription	Small Intestine	intestine
32	chr6:106643400-106652800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:106643400-106654600	Weak transcription	Thymus	Thymus
34	chr6:106643600-106659600	Weak transcription	Fetal Kidney	kidney
35	chr6:106643800-106649000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:106643800-106658800	Weak transcription	HSMMtube	muscle
37	chr6:106644000-106652200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:106644000-106661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:106644200-106652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:106644400-106652400	Weak transcription	GM12878-XiMat	blood
41	chr6:106644600-106651600	Weak transcription	Fetal Thymus	thymus
42	chr6:106644600-106663000	Weak transcription	Left Ventricle	heart
43	chr6:106645600-106649000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr6:106645800-106695400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:106646000-106652000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:106646000-106653000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:106646000-106659200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:106646200-106649400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:106646400-106650000	Strong transcription	Liver	Liver
50	chr6:106646800-106648800	Enhancers	NH-A	brain

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