Variant report

Variant	rs17087477
Chromosome Location	chr6:149830858-149830859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149830636..149832927-chr6:149835174..149836889,2	K562	blood:
2	chr6:149829549..149832059-chr6:149838355..149841591,3	K562	blood:
3	chr6:149827201..149829312-chr6:149829316..149833197,3	K562	blood:
4	chr6:149818918..149821487-chr6:149828653..149831549,2	K562	blood:

Variant related genes	Relation type
ENSG00000131013	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11963941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964790	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966329	1.00[MEX][hapmap]
rs17087440	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17087520	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17087666	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35077558	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35515786	0.88[AFR][1000 genomes]
rs56859590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57065071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57925355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61666489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6926725	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6926874	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6938702	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604736	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604737	0.93[AFR][1000 genomes]
rs73604743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604754	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604776	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604778	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604781	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604784	0.88[AFR][1000 genomes]
rs73604790	0.88[AFR][1000 genomes]
rs73604795	0.88[AFR][1000 genomes]
rs73604799	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606715	0.88[AFR][1000 genomes]
rs73606737	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606738	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7746594	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7771139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7773304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9322211	1.00[MEX][hapmap]
rs9689443	0.88[AFR][1000 genomes]
rs9766104	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9767369	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	7 gene(s)	inside rSNPs	diseases
2	esv1832313	chr6:149789511-149840750	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr6:149806400-149832000	Weak transcription	HSMMtube	muscle
2	chr6:149806400-149844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:149806800-149832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:149807000-149832200	Weak transcription	Lung	lung
5	chr6:149807000-149849000	Weak transcription	Gastric	stomach
6	chr6:149807200-149832000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:149807200-149835000	Weak transcription	Spleen	Spleen
8	chr6:149807200-149842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:149810800-149851600	Weak transcription	Esophagus	oesophagus
10	chr6:149811200-149860600	Weak transcription	Aorta	Aorta
11	chr6:149815600-149845000	Weak transcription	Small Intestine	intestine
12	chr6:149818400-149843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:149818800-149845000	Weak transcription	A549	lung
14	chr6:149819200-149832000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:149820400-149831000	Weak transcription	Ovary	ovary
16	chr6:149820400-149831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:149820400-149832000	Weak transcription	Fetal Heart	heart
18	chr6:149820400-149837400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:149820400-149840800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:149820400-149845200	Weak transcription	Hela-S3	cervix
21	chr6:149820400-149849000	Weak transcription	Psoas Muscle	Psoas
22	chr6:149820400-149850200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:149820600-149831600	Weak transcription	Fetal Stomach	stomach
24	chr6:149820600-149832400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:149820600-149832400	Weak transcription	Dnd41	blood
26	chr6:149820600-149835000	Weak transcription	NHEK	skin
27	chr6:149820600-149838400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:149820600-149839400	Weak transcription	Thymus	Thymus
29	chr6:149820600-149842600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:149820600-149847800	Weak transcription	Brain Substantia Nigra	brain
31	chr6:149820600-149851400	Weak transcription	NHLF	lung
32	chr6:149820600-149865200	Weak transcription	Stomach Mucosa	stomach
33	chr6:149820800-149832600	Weak transcription	HUVEC	blood vessel
34	chr6:149820800-149841800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:149820800-149848200	Weak transcription	Pancreas	Pancrea
36	chr6:149821200-149835200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:149821200-149835200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:149821400-149839800	Weak transcription	HMEC	breast
39	chr6:149821600-149835200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:149821600-149837400	Weak transcription	Fetal Kidney	kidney
41	chr6:149822600-149845000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:149823400-149839200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:149823600-149832200	Weak transcription	Fetal Brain Female	brain
44	chr6:149823800-149851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:149824200-149834000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:149824200-149842600	Weak transcription	Brain Germinal Matrix	brain
47	chr6:149824200-149846000	Weak transcription	Fetal Brain Male	brain
48	chr6:149824400-149832200	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:149824400-149862200	Strong transcription	Liver	Liver
50	chr6:149824600-149833800	Strong transcription	Primary B cells from peripheral blood	blood

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