Variant report

Variant	rs16884654
Chromosome Location	chr6:53919407-53919408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10948797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191362	0.89[CEU][hapmap]
rs17681477	1.00[JPT][hapmap]
rs2894817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs526144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs557018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs581785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs641426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs673471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs689298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6938357	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73434393	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742036	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753626	0.83[AMR][1000 genomes]
rs7766702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs816370	1.00[JPT][hapmap]
rs816371	1.00[JPT][hapmap]
rs9382278	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9382279	0.86[AMR][1000 genomes]
rs9474718	0.84[AMR][1000 genomes]
rs961290	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv523301	chr6:53896155-53921127	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1027036	chr6:53912335-53931843	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	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	chr6:53913600-53926000	Weak transcription	Left Ventricle	heart
2	chr6:53918000-53923200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:53918200-53919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:53918400-53919600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:53918400-53919600	Enhancers	Colonic Mucosa	Colon
6	chr6:53918400-53919600	Enhancers	Fetal Intestine Small	intestine
7	chr6:53918600-53919600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:53918600-53919600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:53918600-53919600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:53918600-53919600	Flanking Active TSS	Osteobl	bone
11	chr6:53918800-53919600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:53918800-53919600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:53918800-53919600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:53918800-53919600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:53918800-53919600	Active TSS	Psoas Muscle	Psoas
16	chr6:53918800-53919600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:53918800-53919600	Active TSS	Right Atrium	heart
18	chr6:53918800-53919600	Flanking Active TSS	HUVEC	blood vessel
19	chr6:53918800-53919600	Flanking Active TSS	NHEK	skin
20	chr6:53918800-53919600	Flanking Active TSS	NHLF	lung
21	chr6:53918800-53923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:53918800-53925200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:53919000-53919600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr6:53919000-53919600	Enhancers	Fetal Brain Male	brain
25	chr6:53919000-53919600	Enhancers	Fetal Brain Female	brain
26	chr6:53919000-53919600	Enhancers	Fetal Lung	lung
27	chr6:53919000-53919600	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr6:53919200-53919600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:53919200-53919600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:53919200-53919600	Flanking Active TSS	Fetal Heart	heart
31	chr6:53919200-53919600	Active TSS	Right Ventricle	heart
32	chr6:53919200-53919600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:53919200-53919600	Enhancers	Hela-S3	cervix
34	chr6:53919200-53924000	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:53919400-53919600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:53919400-53919600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:53919400-53919600	Active TSS	Brain Anterior Caudate	brain
38	chr6:53919400-53919600	Enhancers	Fetal Intestine Large	intestine
39	chr6:53919400-53919600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:53919400-53919600	Enhancers	HMEC	breast
41	chr6:53919400-53919600	Flanking Active TSS	HSMM	muscle
42	chr6:53919400-53919600	Flanking Active TSS	HSMMtube	muscle
43	chr6:53919400-53919600	Enhancers	NH-A	brain
44	chr6:53919400-53919600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr6:53919400-53928200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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