Variant report

Variant	rs11969595
Chromosome Location	chr6:56765341-56765342
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	chr6:56748598..56751509-chr6:56763693..56765656,2	K562	blood:
2	chr6:56765319..56768240-chr6:56782219..56784389,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11963379	1.00[AMR][1000 genomes]
rs11965554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28432154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59524770	1.00[AMR][1000 genomes]
rs60547490	1.00[AMR][1000 genomes]
rs60910643	1.00[AMR][1000 genomes]
rs60962957	1.00[AMR][1000 genomes]
rs9464406	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9464408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475743	1.00[AMR][1000 genomes]
rs9475745	1.00[AMR][1000 genomes]
rs9475746	1.00[AMR][1000 genomes]
rs9475750	0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475751	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9475754	0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475755	0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv508408	chr6:56735681-56773285	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	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
10	esv1002581	chr6:56758291-56767820	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56749200-56769600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:56752400-56767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:56753600-56769600	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:56756000-56767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:56756000-56767400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:56756000-56769600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:56756000-56769600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:56756000-56770000	Weak transcription	Brain Substantia Nigra	brain
9	chr6:56756200-56767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:56756200-56768400	Weak transcription	HMEC	breast
11	chr6:56756200-56768600	Weak transcription	HUVEC	blood vessel
12	chr6:56756200-56768800	Weak transcription	NHEK	skin
13	chr6:56756600-56767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:56756600-56775800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:56756800-56771600	Weak transcription	K562	blood
16	chr6:56757200-56767400	Weak transcription	GM12878-XiMat	blood
17	chr6:56759600-56767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:56761000-56767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:56762400-56765600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:56762400-56766600	Weak transcription	Fetal Stomach	stomach
21	chr6:56763000-56765400	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:56763400-56765400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:56763400-56766800	Weak transcription	Brain Anterior Caudate	brain
24	chr6:56763400-56767200	Weak transcription	Ovary	ovary
25	chr6:56763600-56769800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:56763800-56767200	Enhancers	HSMMtube	muscle
27	chr6:56763800-56774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:56764000-56767400	Weak transcription	A549	lung
29	chr6:56764200-56767000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:56764800-56766600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:56764800-56771400	Weak transcription	NH-A	brain
32	chr6:56765000-56765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:56765000-56765800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:56765000-56766000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:56765000-56766600	Weak transcription	HSMM	muscle
36	chr6:56765000-56766600	Weak transcription	NHLF	lung
37	chr6:56765000-56767200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:56765000-56767400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:56765000-56768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:56765000-56771600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:56765200-56765400	Enhancers	NHDF-Ad	bronchial
42	chr6:56765200-56765800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:56765200-56765800	Strong transcription	Osteobl	bone
44	chr6:56765200-56766600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:56765200-56767200	Weak transcription	Colon Smooth Muscle	Colon

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