Variant report

Variant	rs1903330
Chromosome Location	chr6:56776985-56776986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56773027..56775523-chr6:56776633..56778873,3	K562	blood:
2	chr6:56775814..56778593-chr6:56816617..56819922,3	MCF-7	breast:
3	chr6:56773281..56775523-chr6:56776609..56780879,5	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction
ENSG00000151917	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13195825	0.93[AFR][1000 genomes]
rs13198484	0.93[AFR][1000 genomes]
rs13203600	0.93[AFR][1000 genomes]
rs13205022	0.93[AFR][1000 genomes]
rs13209099	0.93[AFR][1000 genomes]
rs13214032	1.00[AFR][1000 genomes]
rs13215865	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13216793	0.93[AFR][1000 genomes]
rs13220510	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1451707	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1451708	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1460561	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1599280	1.00[CEU][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1599281	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17450853	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17685143	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17685185	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17685277	1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs17685338	1.00[AFR][1000 genomes]
rs17685380	1.00[AFR][1000 genomes]
rs17752412	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17752435	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17752459	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28360537	1.00[AFR][1000 genomes]
rs28360538	1.00[AFR][1000 genomes]
rs34009699	1.00[AFR][1000 genomes]
rs34027274	1.00[AFR][1000 genomes]
rs34232358	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34259328	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34399458	1.00[AFR][1000 genomes]
rs34616943	1.00[AFR][1000 genomes]
rs34714091	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34733863	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34752771	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34812189	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35202312	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35434542	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35527216	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35860642	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35961728	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36112505	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4490669	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55786720	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56030203	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58338781	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61340009	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71550519	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71564866	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71564868	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs720884	1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs748996	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7760385	1.00[AFR][1000 genomes]
rs9296855	0.81[TSI][hapmap]
rs9475752	1.00[CEU][hapmap];0.98[EUR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv5315	chr6:56752042-56798761	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1903330	BEND6	cis	Artery Tibial	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56770000-56779200	Weak transcription	Brain Angular Gyrus	brain
2	chr6:56771600-56777600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:56772000-56777400	Weak transcription	K562	blood
4	chr6:56774000-56779600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:56775400-56778000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:56775600-56777600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:56775600-56777600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:56775600-56777600	Enhancers	NHEK	skin
9	chr6:56775600-56777800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:56775600-56777800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:56775600-56778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:56775600-56778400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:56775600-56778400	Enhancers	HSMM	muscle
14	chr6:56775600-56779400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:56775800-56777000	Enhancers	A549	lung
16	chr6:56775800-56777200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:56775800-56777600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:56775800-56777600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:56775800-56777800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:56775800-56777800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:56775800-56778000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:56775800-56779600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:56775800-56780600	Enhancers	NHLF	lung
24	chr6:56775800-56781200	Enhancers	Osteobl	bone
25	chr6:56776000-56777000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:56776000-56777000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:56776000-56777000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:56776000-56777400	Enhancers	HMEC	breast
29	chr6:56776000-56777600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:56776000-56778200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:56776200-56777000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:56776200-56777000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:56776400-56777600	Weak transcription	Fetal Brain Female	brain
34	chr6:56776400-56778800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:56776600-56777000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:56776600-56777400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:56776600-56777600	Enhancers	NH-A	brain
38	chr6:56776600-56781200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:56776800-56777000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:56776800-56777000	Flanking Active TSS	HSMMtube	muscle
41	chr6:56776800-56777200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:56776800-56777200	Enhancers	Placenta	Placenta
43	chr6:56776800-56777400	Enhancers	NHDF-Ad	bronchial

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