Variant report

Variant	rs185916
Chromosome Location	chr6:164523668-164523669
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	chr6:163837764..163839976-chr6:164521625..164524241,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs185915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206711	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206737	1.00[AMR][1000 genomes]
rs206740	1.00[AMR][1000 genomes]
rs206742	1.00[AMR][1000 genomes]
rs391695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1029952	chr6:164463355-165268911	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3400983	chr6:164521187-164523735	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164506400-164530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:164519000-164528400	Weak transcription	Psoas Muscle	Psoas
3	chr6:164519800-164525000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:164520200-164528600	Weak transcription	Esophagus	oesophagus
5	chr6:164520400-164529200	Weak transcription	Adipose Nuclei	Adipose
6	chr6:164520800-164523800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:164521000-164523800	Weak transcription	Fetal Brain Female	brain
8	chr6:164521000-164524800	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:164522400-164524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:164522600-164525600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:164522800-164523800	Enhancers	Brain Anterior Caudate	brain
12	chr6:164522800-164523800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:164522800-164523800	Enhancers	HUVEC	blood vessel
14	chr6:164522800-164524000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:164522800-164524000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:164522800-164524000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:164522800-164524000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:164522800-164524000	Enhancers	Brain Hippocampus Middle	brain
19	chr6:164522800-164524000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:164522800-164524000	Enhancers	Brain Substantia Nigra	brain
21	chr6:164522800-164524200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:164522800-164524200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:164522800-164524800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:164522800-164525200	Enhancers	Brain Germinal Matrix	brain
25	chr6:164523000-164524000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:164523000-164524000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:164523000-164524000	Enhancers	Brain Angular Gyrus	brain
28	chr6:164523000-164524200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:164523000-164524200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:164523000-164526200	Enhancers	Fetal Heart	heart
31	chr6:164523000-164526200	Weak transcription	Right Ventricle	heart
32	chr6:164523000-164527200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:164523200-164524600	Weak transcription	Left Ventricle	heart
34	chr6:164523200-164529400	Weak transcription	Right Atrium	heart
35	chr6:164523200-164530600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:164523400-164523800	Enhancers	Brain Cingulate Gyrus	brain
37	chr6:164523400-164524000	Enhancers	Fetal Brain Male	brain
38	chr6:164523400-164536400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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