Variant report

Variant	rs71558853
Chromosome Location	chr6:53918837-53918838
allele	A/C
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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11965692	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13196588	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13199742	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13211062	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13211796	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1359562	0.84[EUR][1000 genomes]
rs1409110	0.87[EUR][1000 genomes]
rs35395359	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35778106	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36057920	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57712770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71558851	0.95[EUR][1000 genomes]
rs71558852	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7739196	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750294	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296735	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9464021	1.00[EUR][1000 genomes]
rs9474710	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9474715	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53913600-53926000	Weak transcription	Left Ventricle	heart
2	chr6:53916400-53919200	Enhancers	Fetal Heart	heart
3	chr6:53917200-53919200	Weak transcription	Right Ventricle	heart
4	chr6:53917800-53919000	Enhancers	HSMM	muscle
5	chr6:53917800-53919200	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr6:53918000-53923200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:53918200-53919000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:53918200-53919200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:53918200-53919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:53918400-53919000	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:53918400-53919000	Enhancers	Fetal Intestine Large	intestine
12	chr6:53918400-53919000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:53918400-53919400	Active TSS	Aorta	Aorta
14	chr6:53918400-53919600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:53918400-53919600	Enhancers	Colonic Mucosa	Colon
16	chr6:53918400-53919600	Enhancers	Fetal Intestine Small	intestine
17	chr6:53918600-53919000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:53918600-53919000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:53918600-53919000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:53918600-53919000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:53918600-53919000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr6:53918600-53919000	Enhancers	Stomach Mucosa	stomach
23	chr6:53918600-53919000	Flanking Active TSS	HSMMtube	muscle
24	chr6:53918600-53919200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:53918600-53919400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:53918600-53919400	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:53918600-53919400	Flanking Active TSS	HMEC	breast
28	chr6:53918600-53919400	Flanking Active TSS	NH-A	brain
29	chr6:53918600-53919600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:53918600-53919600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:53918600-53919600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:53918600-53919600	Flanking Active TSS	Osteobl	bone
33	chr6:53918800-53919000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:53918800-53919000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:53918800-53919000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr6:53918800-53919000	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr6:53918800-53919000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr6:53918800-53919200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:53918800-53919200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:53918800-53919200	Flanking Active TSS	Hela-S3	cervix
41	chr6:53918800-53919400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:53918800-53919400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:53918800-53919400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:53918800-53919400	Enhancers	Rectal Smooth Muscle	rectum
45	chr6:53918800-53919400	Active TSS	NHDF-Ad	bronchial
46	chr6:53918800-53919600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:53918800-53919600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:53918800-53919600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr6:53918800-53919600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr6:53918800-53919600	Active TSS	Psoas Muscle	Psoas

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